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Imunodeficiência combinada com anomalias facio-óculo-esqueléticas
ORPHA:221139CID-10 · Q87.8CID-11 · 4A01.1YOMIM 613328DOENÇA RARA

A imunodeficiência combinada com anomalias faciooculoesqueléticas é um distúrbio de imunodeficiência combinada extremamente raro, caracterizado por imunodeficiência primária que se manifesta com infecções bacterianas, virais e fúngicas repetidas, em associação com manifestações neurológicas (hipotonia, ataxia cerebelar, convulsões mioclônicas), atraso no desenvolvimento, atrofia óptica, dismorfismo facial (testa alta, cristas supraorbitais hipoplásicas, edema palpebral, hipertelorismo, ponte nasal plana, raiz nasal larga e ponta, narinas antevertidas, lábio inferior fino sobreposto ao lábio superior, queixo quadrado) e anomalias esqueléticas (metacarpos/metatarsos curtos com epífises em forma de cone, osteopenia).

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Introdução

O que você precisa saber de cara

📋

A imunodeficiência combinada com anomalias faciooculoesqueléticas é um distúrbio de imunodeficiência combinada extremamente raro, caracterizado por imunodeficiência primária que se manifesta com infecções bacterianas, virais e fúngicas repetidas, em associação com manifestações neurológicas (hipotonia, ataxia cerebelar, convulsões mioclônicas), atraso no desenvolvimento, atrofia óptica, dismorfismo facial (testa alta, cristas supraorbitais hipoplásicas, edema palpebral, hipertelorismo, ponte nasal plana, raiz nasal larga e ponta, narinas antevertidas, lábio inferior fino sobreposto ao lábio superior, queixo quadrado) e anomalias esqueléticas (metacarpos/metatarsos curtos com epífises em forma de cone, osteopenia).

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
2
pacientes catalogados
Início
Neonatal
🏥
SUS: Cobertura mínimaScore: 35%
Centros em: PA, PR, SC, RS, ES +10CID-10: Q87.8
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🦴
Ossos e articulações
10 sintomas
😀
Face
8 sintomas
🧠
Neurológico
6 sintomas
🧬
Pele e cabelo
5 sintomas
🫘
Rins
4 sintomas
🛡️
Imunológico
4 sintomas

+ 24 sintomas em outras categorias

Características mais comuns

55%prev.
Alimentação por sonda nasogástrica
Frequente (79-30%)
55%prev.
Artéria subclávia direita aberrante
Frequente (79-30%)
55%prev.
Hérnia umbilical
Frequente (79-30%)
55%prev.
Hipertelorismo
Frequente (79-30%)
55%prev.
Dermatite psoriasiforme
Frequente (79-30%)
55%prev.
Ataxia
Frequente (79-30%)
78sintomas
Frequente (67)
Ocasional (3)
Sem dados (8)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 78 características clínicas mais associadas, ordenadas por frequência.

Alimentação por sonda nasogástricaNasogastric tube feeding
Frequente (79-30%)55%
Artéria subclávia direita aberranteAberrant right subclavian artery
Frequente (79-30%)55%
Hérnia umbilicalUmbilical hernia
Frequente (79-30%)55%
HipertelorismoHypertelorism
Frequente (79-30%)55%
Dermatite psoriasiformePsoriasiform dermatitis
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos200publicações
Pico202356 papers
Linha do tempo
2026Hoje · 2026📈 2023Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

2 genes identificados com associação a esta condição. Padrão de herança: Multigenic/multifactorial.

KNSTRNSmall kinetochore-associated proteinDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Essential component of the mitotic spindle required for faithful chromosome segregation and progression into anaphase (PubMed:19667759). Promotes the metaphase-to-anaphase transition and is required for chromosome alignment, normal timing of sister chromatid segregation, and maintenance of spindle pole architecture (PubMed:19667759, PubMed:22110139). The astrin (SPAG5)-kinastrin (SKAP) complex promotes stable microtubule-kinetochore attachments (PubMed:21402792). Required for kinetochore oscilla

LOCALIZAÇÃO

NucleusChromosome, centromere, kinetochoreCytoplasm, cytoskeleton, spindle poleCytoplasm, cytoskeleton, microtubule organizing center

MECANISMO DE DOENÇA

Roifman-Chitayat syndrome

An autosomal recessive digenic disorder characterized by global developmental delay, variable neurologic features such as seizures and ataxia, optic atrophy, dysmorphic facial features, distal skeletal anomalies, and recurrent invasive infections due to combined immunodeficiency.

EXPRESSÃO TECIDUAL(Ubíquo)
Testículo
94.2 TPM
Tireoide
76.5 TPM
Linfócitos
35.8 TPM
Fibroblastos
20.4 TPM
Cérebro - Hemisfério cerebelar
14.9 TPM
OUTRAS DOENÇAS (1)
combined immunodeficiency with faciooculoskeletal anomalies
HGNC:30767UniProt:Q9Y448
PIK3CDPhosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoformDisease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

Phosphoinositide-3-kinase (PI3K) phosphorylates phosphatidylinositol (PI) and its phosphorylated derivatives at position 3 of the inositol ring to produce 3-phosphoinositides (PubMed:9235916). Uses ATP and PtdIns(4,5)P2 (phosphatidylinositol 4,5-bisphosphate) to generate phosphatidylinositol 3,4,5-trisphosphate (PIP3) (PubMed:15135396). PIP3 plays a key role by recruiting PH domain-containing proteins to the membrane, including AKT1 and PDPK1, activating signaling cascades involved in cell growt

LOCALIZAÇÃO

Cytoplasm

VIAS BIOLÓGICAS (10)
PI5P, PP2A and IER3 Regulate PI3K/AKT SignalingPIP3 activates AKT signalingConstitutive Signaling by Aberrant PI3K in CancerAntigen activates B Cell Receptor (BCR) leading to generation of second messengersCD28 dependent PI3K/Akt signaling
MECANISMO DE DOENÇA

Immunodeficiency 14A with lymphoproliferation, autosomal dominant

A disorder characterized by recurrent respiratory infections, progressive airway damage, lymphopenia, increased circulating transitional B cells, increased immunoglobulin M, reduced immunoglobulin G2 levels in serum, and impaired vaccine responses.

EXPRESSÃO TECIDUAL(Ubíquo)
Linfócitos
111.7 TPM
Sangue
96.7 TPM
Baço
83.9 TPM
Pulmão
24.0 TPM
Intestino delgado
15.7 TPM
OUTRAS DOENÇAS (4)
immunodeficiency 14immunodeficiency 14b, autosomal recessivecombined immunodeficiency with faciooculoskeletal anomaliesautosomal agammaglobulinemia
HGNC:8977UniProt:O00329

Variantes genéticas (ClinVar)

1,009 variantes patogênicas registradas no ClinVar.

🧬 KNSTRN: GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3 ()
🧬 KNSTRN: NM_033286.4(KNSTRN):c.629del (p.Leu210fs) ()
🧬 KNSTRN: GRCh37/hg19 15q14-15.1 chr15:34638237..42057083 complex variant ()
🧬 KNSTRN: GRCh37/hg19 15q14-15.1(chr15:38170429-40775075)x1 ()
🧬 KNSTRN: Single allele ()
Ver todas no ClinVar

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Imunodeficiência combinada com anomalias facio-óculo-esqueléticas

Centros de Referência SUS

24 centros habilitados pelo SUS para Imunodeficiência combinada com anomalias facio-óculo-esqueléticas

Centros para Imunodeficiência combinada com anomalias facio-óculo-esqueléticas

Detalhes dos centros

Hospital Universitário Prof. Edgard Santos (HUPES)

R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital Infantil Albert Sabin

R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital de Apoio de Brasília (HAB)

AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)

Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital das Clínicas da UFG

Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital Universitário da UFJF

R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442

Atenção Especializada

Rota
Anomalias Congênitas

Hospital das Clínicas da UFMG

Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Julio Müller (HUJM)

R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092

Atenção Especializada

Rota
Anomalias Congênitas

Hospital Universitário João de Barros Barreto

R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Lauro Wanderley (HULW)

R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470

Atenção Especializada

Rota
Anomalias Congênitas

Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)

R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Pequeno Príncipe

R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital Universitário Regional de Maringá (HUM)

Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108

Atenção Especializada

Rota
Anomalias Congênitas

Hospital de Clínicas da UFPR

R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Pedro Ernesto (HUPE-UERJ)

Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)

Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital São Lucas da PUCRS

Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital de Clínicas de Porto Alegre (HCPA)

Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário da UFSC (HU-UFSC)

R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital das Clínicas da FMUSP

R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Base de São José do Rio Preto

Av. Brg. Faria Lima, 5544 - Vila Sao Jose, São José do Rio Preto - SP, 15090-000 · CNES 2079798

Atenção Especializada

Rota
Anomalias Congênitas

Hospital de Clínicas da UNICAMP

R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas de Ribeirão Preto (HCRP-USP)

R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

UNIFESP / Hospital São Paulo

R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo
Sobre os centros SUS: Estes centros são habilitados pelo Ministério da Saúde como Serviços de Referência em Doenças Raras ou Serviços de Atenção Especializada. O atendimento é pelo SUS, com encaminhamento da rede de atenção básica.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

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Ensaios clínicos abertos e novidades científicas recentes

Pesquisa e ensaios clínicos

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Hematopoietic stem cell transplantation for purine nucleoside phosphorylase deficiency: an EBMT-IEWP retrospective study.

Blood2026 Jan 08

Purine nucleoside phosphorylase (PNP) deficiency causes inadequate purine metabolite detoxification, which leads to combined immunodeficiency and variable neurologic symptoms. Hematopoietic stem cell transplantation (HSCT) cures the immunodeficiency, but large studies on the long-term outcomes are lacking. In a retrospective study of the European Society for Blood and Marrow Transplantation, we investigated 46 patients with PNP deficiency from 21 centers. We analyzed the presenting clinical signs and outcomes after HSCT. Cognition (0-3), hearing (0-3), interaction (0-4), movement (0-4), and occupation (0-3) (CHIMO) were scored at the last follow-up (FU) visit (no impairment, 17; mild, 15-16; moderate, 12-14; and severe impairment, <12). The median age at initial presentation was 7.5 (1-48) months. The patients presented with infections (41%), neurological dysfunction (39%), both (15%), or autoimmune disease (5%). At the time of HSCT (median age, 26 [2-192] months), neurological abnormalities were observed in 88% of patients. After a median FU of 7.9 (1.0-22.3) years, 40 patients were alive with a 3-year overall survival (OS)/event-free survival (EFS) probabilities of 86% (confidence interval [CI], 77%-97%)/75% (CI, 64%-89%), respectively. High-level (>50%-100%)/low-level donor chimerism (11%-50%) was observed in 85%/15% of patients, respectively, leading to resolution of T lymphopenia. The median overall CHIMO score was 14 (6-17), while the median scores for each component were 3 (0-3), 3 (1-3), 4 (1-4), 3 (1-4), and 2 (0-3), respectively. Patients who underwent HSCT before 24 months after the initial presentation demonstrated superior OS (P = .049). Neurological symptoms that occurred before 11 months of age were associated with reduced OS (P = .027). While the overall results were satisfactory, earlier diagnosis could further improve outcomes.

#2

[Research progress on the involvement of glucose transporter-mediated cerebral glucose metabolism in the regulation of sepsis-associated encephalopathy].

Zhonghua wei zhong bing ji jiu yi xue2026 Jan

Sepsis-associated encephalopathy (SAE) refers to diffuse brain dysfunction caused by a systemic inflammatory response, in the absence of direct central nervous system infection, structural brain abnormalities, or clinical/laboratory evidence of other types of encephalopathy. It is a common complication in sepsis, and its pathogenesis has not yet been fully elucidated. Recent studies have revealed that dysregulated cerebral glucose metabolism plays an important role in the development of SAE, in which glucose transporters (GLUTs) are critically involved. This article reviews the research progress on the involvement of brain glucose metabolism mediated by GLUTs in the regulation of SAE. The study focuses on: 1) The expression and function of GLUT1, GLUT3 and GLUT4 in brain tissue. 2) The function and expression of GLUTs in brain tissue are regulated by multiple factors: estrogen, cytokines, metabolic state and mitochondrial status. 3) The mechanisms of GLUTs in SAE and related brain disorders (such as neurodegenerative diseases associated with aging, cerebral hemorrhage, meningitis, encephalopathy caused by human immunodeficiency virus infection and encephalopathy caused by burns or burns combined with infection). 4) Potential therapeutic strategies for SAE based on glucose metabolism regulation: improving the expression of GLUTs associated with blood-brain barrier function; modulating the function of GLUTs involved in neuroinflammation; enhancing mitochondrial function, reducing oxidative stress, and increasing adenosine triphosphate production to indirectly boost GLUTs expression and activity; metabolic reprogramming-adjusting key metabolic enzymes or pathways to alter cellular metabolic characteristics and adapt to the energy demands during sepsis. The aim is to provide a theoretical basis for a deeper understanding of the pathophysiological mechanisms of SAE and the development of new therapeutic targets.

#3

Case Report: a 28-year-old female patient presented with recurrent fevers and episodes of shock due to ZBTB24 pathogenic variant.

Frontiers in immunology2026

Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome, commonly known as ICF syndrome, is a rare multisystem autosomal recessive disorder. ICF syndrome is primarily classified into five subtypes: ICF1, ICF2, ICF3, ICF4, and ICFX. Among these, the ICF2 subtype is mainly caused by pathogenic variant in the ZBTB24. A 28-year-old female patient was admitted to our hospital presenting with fever and shock. Despite aggressive antimicrobial therapy, the patient continued to experience repeated episodes of infectious shock following admission for sepsis. This abnormality drew the doctors' attention and sparked in-depth discussion and analysis. With the discovery of abnormalities in the patient's immune cells, we became even more convinced that the underlying cause might be a genetic pathogenic variant in the patient. Ultimately, after conducting whole exome sequencing, we identified a homozygous pathogenic variant in the ZBTB24 (chr6:109476256 G>A, NM_014797.3: c.1123C>T, p.Gln375*) in the patient. Based on literature review, we implemented a treatment regimen of gamma globulin (10 g/day) combined with antibiotics for the patient. Our efforts ultimately proved successful: the patient recovered fully and was discharged from the hospital. During the one-year follow-up, the patient remained in good condition. The therapeutic regimen of gamma globulin combined with antibiotics has demonstrated beneficial effects in the treatment of our reported patient.

#4

Altered neurovascular coupling in patients with human immunodeficiency virus-associated asymptomatic neurocognitive impairment: a multimodal magnetic resonance imaging study.

Quantitative imaging in medicine and surgery2026 Mar 01

Human immunodeficiency virus (HIV) infection can lead to HIV-associated neurocognitive disorders (HAND), among which asymptomatic neurocognitive impairment (ANI) represents a critical stage for early intervention. However, neuroimaging biomarkers with high sensitivity and specificity for ANI are lacking. The neurovascular coupling (NVC) characteristic in ANI remains unclear. This study aimed to investigate changes in cerebral blood flow (CBF), functional connectivity strength (FCS), and their coupling in patients with ANI under both resting-state and movie-watching conditions, and to evaluate the discriminative performance of multimodal neuroimaging indicators for ANI. This study enrolled 75 participants with HIV, including 41 with ANI and 34 who were cognitively normal (CN). All participants underwent multimodal magnetic resonance imaging (MRI), including T1-weighted imaging, arterial spin labeling (ASL), resting-state and movie-watching-state functional MRI (fMRI). CBF, FCS, and CBF-FCS coupling coefficients were calculated. Between-group differences were assessed using independent-samples t-tests, with adjustments for age and years of education, and multiple-comparison correction where applicable. Correlation analyses were conducted to explore their associations with cognitive and clinical indicators. Three machine learning (ML) models [K-Nearest Neighbors (KNN), Random Forest (RF), and Support Vector Machine (SVM)] with leave-one-out cross-validation were constructed to evaluate the classification performance of multimodal neuroimaging metrics for ANI, and SHapley Additive exPlanations (SHAP) were applied to quantify feature importance. The ANI group exhibited abnormal CBF in multiple brain regions and abnormal FCS in both resting-state and movie-watching-state. At the whole-brain level, the CBF-FCS coupling reversed from weakly positive in the CN participants (resting-state: r=0.0348; movie-watching-state: r=0.0364) to weakly negative in the ANI participants (resting-state: r=-0.0283; movie-watching-state: r=-0.0354), and the coupling coefficients were significantly reduced in the ANI participants compared to the CN participants (resting-state: P=0.004; movie-watching-state: P<0.001). Among the ML models, the full multimodal feature set achieved optimal classification performance [KNN: area under the curve (AUC) =0.957; accuracy =0.890; sensitivity =0.980; specificity =0.790], and the movie-based combination "CBF + movie-FCS + movie CBF-FCS coupling" showed consistently high performance across the models (AUC =0.929-0.962). SHAP indicated that the movie-watching-state NVC contributed the most prominently to the prediction of ANI. Patients with ANI exhibit abnormal CBF, FCS, and NVC. Compared with the resting-state paradigm, the movie paradigm was more sensitive in detecting neural functional abnormalities. The integration of multimodal neuroimaging indicators showed promising discriminative performance for ANI classification. NVC decoupling may represent a candidate neuroimaging marker of early ANI-related brain alterations and warrants longitudinal validation.

#5

Biallelic Variants in RNU6ATAC Result in a Minor Spliceopathy Characterized by Transcriptome-Wide Minor Intron Retention Events and Short Stature with Variable Multisystem Manifestations.

HGG advances2026 Mar 09

We report three individuals with biallelic variants in RNU6ATAC, which encodes the U6atac minor spliceosomal small nuclear RNA (snRNA), causing a multisystem minor spliceopathy. Through RNAseq analysis, we identified a distinctive excess of minor intron retention (MIR) in two unrelated individuals, which guided the identification of biallelic RNU6ATAC variants. The discovery cohort presented with variable multisystem manifestations. One individual presented with refractory epilepsy, microcephaly, developmental delay, ataxia, bilateral toe syndactyly, hypereosinophilia, and short stature, whereas the other exhibited failure to thrive, short stature, primary hypothyroidism, combined variable immunodeficiency, eosinophilic colitis, ichthyosis vulgaris, scoliosis, and chronic inflammatory demyelinating polyneuropathy without neurodevelopmental involvement. Despite organ-specific variation, both individuals displayed impaired growth and eosinophil-driven inflammation. Recently, we identified a third affected individual from an independent cohort whose phenotype bridges these features, combining microcephaly, growth failure with severe immunodeficiency, and skeletal abnormalities. The distinctive excess of MIR outliers in the discovery cohort supports minor spliceosome dysfunction, mirroring the molecular signature of RNU4ATAC-opathy. These findings nominate RNU6ATAC as a disease-associated gene, defining an expanded clinical spectrum of minor spliceopathies. Our study supports the power of integrating genomic and transcriptomic approaches for diagnosing splicing disorders and highlights the critical role of spliceosomal snRNAs in human disease.

📚 EuropePMCmostrando 199

2026

[Research progress on the involvement of glucose transporter-mediated cerebral glucose metabolism in the regulation of sepsis-associated encephalopathy].

Zhonghua wei zhong bing ji jiu yi xue
2026

Case Report: a 28-year-old female patient presented with recurrent fevers and episodes of shock due to ZBTB24 pathogenic variant.

Frontiers in immunology
2026

Altered neurovascular coupling in patients with human immunodeficiency virus-associated asymptomatic neurocognitive impairment: a multimodal magnetic resonance imaging study.

Quantitative imaging in medicine and surgery
2026

Biallelic Variants in RNU6ATAC Result in a Minor Spliceopathy Characterized by Transcriptome-Wide Minor Intron Retention Events and Short Stature with Variable Multisystem Manifestations.

HGG advances
2026

[Primary humoral immunodeficiencies associated with enteropathies: An update].

La Revue de medecine interne
2026

Case Report: Tricho-hepato-enteric syndrome in an infant presented with colorectal ulceration and severe respiratory superinfection.

Frontiers in immunology
2026

Demographic, clinical, and immunological features in combined immunodeficiency patients: a comparative analysis of those with and without pulmonary manifestations - a multicenter study from Iran.

BMC pulmonary medicine
2026

Neonatal erythroderma and immunodysplasia: Overlap of cartilage-hair hypoplasia and Omenn syndrome.

European journal of medical genetics
2026

A case of concurrent cold agglutinin disease and C3 glomerulonephritis requiring differentiation from other iatrogenic immunodeficiency-associated lymphoproliferative disorder in a patient with rheumatoid arthritis and Sjögren's disease.

Immunological medicine
2026

Diagnosis of Paediatric Inborn Errors of Immunity in a MENA Cohort Referred for Recurrent Infections Using a Structured Clinical Algorithm: A Real-Life Cross-Sectional Study.

Journal of paediatrics and child health
2025

An integrated platform for concurrent structural and single-nucleotide variants improves copy-number detection and reveals pathogenic alleles in undiagnosed Mendelian families.

Genome medicine
2025

TYK2 Deficiency Presenting as Refractory Disseminated BCG/Tuberculosis Infection in a Kazakh Child: A Case Report with Genetic Confirmation.

Genes
2026

Safety, pharmacokinetics, and efficacy of albuvirtide administered by intravenous bolus every 4 weeks in combination with oral dolutegravir in virologically suppressed adults living with HIV: A 24-week study.

International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases
2025

Follow-up and Outcomes of Infants Perinatally-exposed to HIV in a Low-prevalence Setting: The Multicenter Children's HIV Exposure Study 2.

Journal of the Pediatric Infectious Diseases Society
2025

Association of choroid plexus volume, glymphatic system markers, and cognitive impairment in HIV-associated neurocognitive disorders.

BMC infectious diseases
2026

The Skin Tells the Story: Early Signs of Inborn Errors of Immunity.

The journal of allergy and clinical immunology. In practice
2025

The safety of cabotegravir in pregnancy: a systematic review and meta-analysis.

BMC infectious diseases
2026

The Association Between Cannabis Use and Electrocardiographic Abnormalities in People Living With HIV.

Journal of acquired immune deficiency syndromes (1999)
2025

Early-onset neutropenia and mixed phenotype in ADA2 deficiency: diagnostic and therapeutic challenges.

Frontiers in immunology
2026

Disseminated histoplasmosis in a patient without identified immunodeficiency: A case report.

International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases
2025

CVID Enteropathy Is Difficult To Treat and Shows a Heterogeneous Histopathology.

Journal of clinical immunology
2025

Cervical Cancer Screening in HIV-Positive Women by Conventional Exfoliative Cytology and Liquid-Based Cytology.

Cureus
2025

Once-daily dolutegravir/lamivudine fixed-dose formulations in children living with HIV: a pharmacokinetic and safety sub-study nested in the open-label, multicentre, randomised, non-inferiority D3/PENTA 21 trial.

EBioMedicine
2026

Hematopoietic stem cell transplantation for purine nucleoside phosphorylase deficiency: an EBMT-IEWP retrospective study.

Blood
2025

Abatacept restores dysregulated transcriptomic and proteomic profile in disorders of CTLA-4 insufficiency.

The Journal of allergy and clinical immunology
2026

Evaluating birth outcomes following oral rilpivirine use in pregnancy in the United States: Findings from the antiretroviral pregnancy registry.

HIV medicine
2026

A comparative analysis of HbA1c, glycated albumin, and fasting plasma glucose for glycemic assessment in people living with HIV.

Journal of microbiology, immunology, and infection = Wei mian yu gan ran za zhi
2025

Severe Combined Immunodeficiency in the Newborn Period.

NeoReviews
2025

Clinical and molecular findings in actin-related inborn errors of immunity: the middle East and North Africa registry.

Frontiers in genetics
2025

ASXL1 deficiency causes epigenetic dysfunction, combined immunodeficiency, and EBV-associated lymphoma.

The Journal of experimental medicine
2025

[An autopsy case of non-drug related progressive multifocal leukoencephalopathy in a background of rheumatoid arthritis].

Rinsho shinkeigaku = Clinical neurology
2025

Health Supervision for Children With 22q11.2 Deletion Syndrome: Clinical Report.

Pediatrics
2025

Paracentral acute middle maculopathy as a major clinical manifestation of adenosine deaminase-2 deficiency.

BMC ophthalmology
2025

NHEJ1 Splice Variants Associated With Bone Marrow Failure and Hematologic Malignancy.

Pediatric blood &amp; cancer
2025

Large scale causal modeling to identify adults at risk for combined and common variable immunodeficiencies.

NPJ digital medicine
2025

Analysis of dynamic network reconfiguration in HIV patients with cognitive impairment based multilayer network.

Scientific reports
2025

Clinical and Immunological Features of a Large DiGeorge Syndrome Cohort.

Journal of clinical immunology
2025

Partial Thymectomy during Tracheostomy for Superior Herniation of Normal Mediastinal Thymus in a Patient with Larsen Syndrome: A Case Report.

Surgical case reports
2025

Diagnostic dilemma of a new endobronchial lesion in a patient on anti-tuberculosis regimen: unveiling tuberculosis immune reconstitution inflammatory syndrome.

BMC infectious diseases
2025

Antiretroviral-Induced Toxicity in Umbilical Cord Blood-Derived Haematopoietic Stem/Progenitor Cells.

Journal of cellular and molecular medicine
2026

JAK3-deficient mini-pigs exhibit impaired lymphoid organogenesis, intestinal structure, and leukocyte/cytokine production.

Journal of advanced research
2025

A Comparison between LTT and CFSE Proliferation Tests in Patients with Inborn Errors of Adaptive Immunity.

Endocrine, metabolic &amp; immune disorders drug targets
2025

Challenge in a Malrotation Case: Presentation Mimicking Severe Combined Immunodeficiency.

Journal of paediatrics and child health
2025

Clinical analysis of ten cases of HIV infection combined with acute leukemia.

Open medicine (Warsaw, Poland)
2025

DNA ligase IV deficiency identified in a patient with hypergonadotropic hypogonadism: a case report.

Journal of pediatric endocrinology &amp; metabolism : JPEM
2025

Association between Insulin-Like Growth Factor Binding Protein-7 and Heart Failure.

Current medicinal chemistry
2025

Application of whole-exome sequencing to predict inborn errors of immunity in pediatric severe infections and sepsis.

Clinical and experimental immunology
2024

Parallel use of low-complexity automated nucleic acid amplification tests on respiratory samples and stool with or without lateral flow lipoarabinomannan assays to detect pulmonary tuberculosis disease in children.

The Cochrane database of systematic reviews
2025

Identifying novel heterozygous PI4KA variants in fetal abnormalities.

BMC medical genomics
2024

Cardiovascular Risk Prediction Models in People Living with Human Immunodeficiency Virus under Antiretroviral Therapy in Northern Mexico.

Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion
2024

An overview of proactive monitoring and management of respiratory issues in ataxia-telangiectasia in a specialist and shared care pediatric clinic.

Frontiers in pediatrics
2024

Novel IL2RG gene mutation causing primary combined immunodeficiency disease: A case report and literature review.

Central-European journal of immunology
2024

Report of the Italian Cohort with Activated Phosphoinositide 3-Kinase δ Syndrome in the Target Therapy Era.

Journal of clinical immunology
2025

Current landscape of monogenic autoinflammatory actinopathies: A literature review.

Autoimmunity reviews
2024

CXCR4 antagonism ameliorates leukocyte abnormalities in a preclinical model of WHIM syndrome.

Frontiers in immunology
2024

A rare case report of severe prostate abscess treated with artificial intelligence-assisted mpMRI-TRUS real-time-guided puncture drainage.

SAGE open medical case reports
2024

Tensor-valued diffusion MRI detects brain microstructural abnormalities in HIV infected individuals with cognitive impairment.

Scientific reports
2024

VizCNV: An integrated platform for concurrent phased BAF and CNV analysis with trio genome sequencing data.

bioRxiv : the preprint server for biology
2024

Defective kinase activity of IKKα leads to combined immunodeficiency and disruption of immune tolerance in humans.

Nature communications
2024

Decreased TREC and KREC levels in newborns with trisomy 21.

Frontiers in pediatrics
2024

Immuno-hematological parameters among adult HIV patients before and after initiation of Dolutegravir based antiretroviral therapy, Addis Ababa, Ethiopia.

PloS one
2024

Virologically suppressed switch to Dolutegravir/Lamivudine 2-Drug regimen versus switch to commonly prescribed 3-Drug regimens in the United States.

AIDS research and therapy
2024

Abnormal spirometric patterns and respiratory symptoms in HIV patients with no recent pulmonary infection in a periurban hospital in Ghana.

PloS one
2024

Effect of C-to-T transition at CpG sites on tumor suppressor genes in tumor development in cattle evaluated by somatic mutation analysis in enzootic bovine leukosis.

mSphere
2024

Rapid identification of primary atopic disorders (PAD) by a clinical landmark-guided, upfront use of genomic sequencing.

Allergologie select
2024

Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia.

Journal of clinical immunology
2024

Corrigendum: Abnormalities of thymic stroma may contribute to immune dysregulation in murine models of leaky severe combined immunodeficiency.

Frontiers in immunology
2025

Early bone marrow alterations in patients with adenosine deaminase 2 deficiency across disease phenotypes and severities.

The Journal of allergy and clinical immunology
2024

The ICF2 gene Zbtb24 specifically regulates the differentiation of B1 cells via promoting heme synthesis.

Cellular &amp; molecular biology letters
2024

Abnormal Immune Profile in Individuals with Kabuki Syndrome.

Journal of clinical immunology
2024

Identification and validation of coagulation and fibrinolytic-related diagnostic biomarkers for ulcerative colitis by bioinformatics analysis.

Medicine
2024

A randomised control trial of BIC/F/TAF vs DRV/c/F/TAF in context of HIV test-and-treat, BicTnT.

HIV research &amp; clinical practice
2024

Unveiling genetic variants: Tetra-primer ARMS-PCR diagnosis and structural insights into BLAD, BC, and DUMPS in Pakistani cattle herds.

Molecular biology reports
2024

A Novel Variant of the PIK3R1 Gene Mutation Associated With SHORT Syndrome and Agammaglobulinemia.

Cureus
2025

MRI Assessment of Diastolic Dysfunction in People Living With the Human Immunodeficiency Virus: Correlation With Markers of Disease Activity.

Journal of magnetic resonance imaging : JMRI
2024

A Clinical Neurological Approach to the Child With Adenosine Deaminase Deficiency.

Pediatric neurology
2024

Cervical cancer screening integrated in routine clinical care of women with HIV.

AIDS (London, England)
2024

Discovery of pathogenic variants in EFEMP2 and RAG1 and undetectable fetal phenotype: A challenge of prenatal exome sequencing.

Prenatal diagnosis
2024

Idiopathic pulmonary hemosiderosis associated with Kabuki syndrome.

Immunological medicine
2024

Fluoxetine Successfully Treats Intracranial Enterovirus E18 Infection in a Patient with CD79a Deficiency Arising from Segmental Uniparental Disomy of Chromosome 19.

Journal of clinical immunology
2024

NUDCD3 deficiency disrupts V(D)J recombination to cause SCID and Omenn syndrome.

Science immunology
2024

Acute promyelocytic leukemia with additional chromosome abnormalities in a patient positive for HIV: A case report and literature review.

Oncology letters
2024

Altered oral microbiome, but normal human papilloma virus prevalence in cartilage-hair hypoplasia patients.

Orphanet journal of rare diseases
2024

Pharmacokinetics and safety of coformulated bictegravir, emtricitabine, and tenofovir alafenamide in children aged 2 years and older with virologically suppressed HIV: a phase 2/3, open-label, single-arm study.

The lancet. HIV
2024

Parental Engagement in Identifying Information Needs After Newborn Screening for Families of Infants with Suspected Athymia.

Journal of clinical immunology
2024

Increased mortality in infants with abnormal T-cell receptor excision circles.

Pediatric research
2024

Phenotypic spectrum in a family with a novel RAC2 p.I21S dominant-activating mutation.

Clinical &amp; translational immunology
2024

Meconium peritonitis in multiple intestinal atresia with combined immune deficiency caused by a TTC7A mutation: A case report.

SAGE open medical case reports
2024

The Upper-gastrointestinal Endoscopic Findings of People Living with HIV: A Systematic Review.

Current HIV research
2024

Clinical characteristics and prognosis of pediatric Listeria monocytogenes meningitis based on 10-year data from a large children's hospital in China.

Microbiology spectrum
2024

Primary and secondary defects of the thymus.

Immunological reviews
2024

Loss of helicase C-terminal domain of SMARCAL1 protein associated with severe Schimke immuno-osseous dysplasia.

Pathology, research and practice
2024

Clinical and functional spectrum of RAC2-related immunodeficiency.

Blood
2024

Shorter birth length and decreased T-cell production and function predict severe infections in children with non-severe combined immunodeficiency cartilage-hair hypoplasia.

The journal of allergy and clinical immunology. Global
2024

HIV-1 infection and the hematopoietic microenvironment.

AIDS reviews
2023

Evaluation of Clinical and Immunological Alterations Associated with ICF Syndrome.

Journal of clinical immunology
2023

Large-scale deep learning analysis to identify adult patients at risk for combined and common variable immunodeficiencies.

Communications medicine
2024

Carotid Intima-Media Thickness and Metabolic Complications in Children with HIV on Antiretroviral Therapy: A Cross-Sectional Study.

Indian journal of pediatrics
2023

Ataxia-telangiectasia and combined hepatocellular-cholangiocarcinoma: A case report.

Indian journal of pathology &amp; microbiology
2024

Non-conditioned cord blood transplantation for infection control in athymic CHARGE syndrome.

Pediatric blood &amp; cancer
2023

Learning from cerebrospinal fluid drug-resistant HIV escape-associated encephalitis: a case report.

Virology journal
2023

Time to Cancer Treatment and Chemotherapy Relative Dose Intensity for Patients With Breast Cancer Living With HIV.

JAMA network open
2024

Common variable immunodeficiency, cross currents, and prevailing winds.

Immunological reviews
2023

Central Nervous System Lymphoma.

Seminars in neurology
2024

Immune dysfunction in patients with end stage kidney disease; Immunosenescence - Review.

Romanian journal of internal medicine = Revue roumaine de medecine interne
2023

Tolerability and effectiveness of albuvirtide combined with dolutegravir for hospitalized people living with HIV/AIDS.

Medicine
2024

Cutaneous vasculitis in autoinflammatory diseases.

The Journal of dermatology
2023

FDG-Avid Granulomatous Lymphocytic Interstitial Lung Disease With Common Variable Immunodeficiency.

Clinical nuclear medicine
2023

Neurologic Status of Patients with Purine Nucleoside Phosphorylase Deficiency Before and After Hematopoetic Stem Cell Transplantation.

Journal of clinical immunology
2024

Impact of newborn screening for SCID on the management of congenital athymia.

The Journal of allergy and clinical immunology
2023

Myocardial extracellular volume fraction is positively associated with activated monocyte subsets among cART-treated persons living with HIV in South Africa.

International journal of cardiology
2023

Schimke immuno-osseous dysplasia. A case report in Colombia.

Molecular genetics and metabolism reports
2023

[Monogenic auto-inflammatory diseases associated with actinopathies: A review of the literature].

La Revue de medecine interne
2023

Longitudinal analysis of immune reconstitution and metabolic changes in women living with HIV: A real-world observational study.

Chinese medical journal
2023

Common and Uncommon CT Findings in CVID-Related GL-ILD: Correlations with Clinical Parameters, Therapeutic Decisions and Potential Implications in the Differential Diagnosis.

Journal of clinical immunology
2023

A Narrative Review of the Neurological Manifestations of Human Adenosine Deaminase 2 Deficiency.

Journal of clinical immunology
2023

[Clinical features of non-cirrhotic portal hypertension in patients with common variable immunodeficiency].

Zhonghua nei ke za zhi
2023

Donor T cell STAT3 deficiency enables tissue PD-L1-dependent prevention of graft-versus-host disease while preserving graft-versus-leukemia activity.

The Journal of clinical investigation
2023

B cell abnormalities and autoantibody production in patients with partial RAG deficiency.

Frontiers in immunology
2023

Allogeneic hematopoietic stem cell transplantation corrects ligase IV deficiency.

Transplant immunology
2023

Advanced computational analysis of CD40LG variants in atypical X-linked hyper-IgM syndrome.

Clinical immunology (Orlando, Fla.)
2023

Microalbuminuria in Perinatally HIV-Infected Children and Adolescents in the United States.

Open forum infectious diseases
2023

Rapidly progressive interstitial lung disease combined with pneumocystis jiroveci pneumonia in a patient with single anti-TIF-1γ antibody positive dermatomyositis in the context of an underlying tumor.

BMC pulmonary medicine
2023

Combined novel homozygous variants in both SGPL1 and STAT1 presenting with severe combined immune deficiency: case report and literature review.

Frontiers in immunology
2023

Cerebral abnormalities in HIV-infected individuals with neurocognitive impairment revealed by fMRI.

Scientific reports
2023

Screening Newborns for Low T Cell Receptor Excision Circles (TRECs) Fails to Detect Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome.

The journal of allergy and clinical immunology. In practice
2023

[Good syndrome: a rare, unusual immunodeficiency condition].

Orvosi hetilap
2023

Severe combined immunodeficiency: improved survival leading to detection of underlying liver disease.

BMC gastroenterology
2023

Association between cardio-ankle vascular index and cardiometabolic risk factors in HIV patients in Ghana.

The Libyan journal of medicine
2023

Molecular Factors and Pathways of Hepatotoxicity Associated with HIV/SARS-CoV-2 Protease Inhibitors.

International journal of molecular sciences
2023

Efficacy and safety of three antiretroviral therapy regimens started in pregnancy up to 50 weeks post partum: a multicentre, open-label, randomised, controlled, phase 3 trial.

The lancet. HIV
2023

Delayed-onset adenosine deaminase deficiency with a novel synonymous mutation and a case series from China.

World journal of pediatrics : WJP
2023

Microbiome and Its Dysbiosis in Inborn Errors of Immunity.

Pathogens (Basel, Switzerland)
2023

Epigenetic activation of the TUSC3 gene as a potential therapy for XMEN disease.

The Journal of allergy and clinical immunology
2023

Short-term toxicity assessment of combined use of zidovudine, lamivudine and lopinavir/ritonavir in vitro and in vivo.

Basic &amp; clinical pharmacology &amp; toxicology
2023

Spondyloenchondrodysplasia in five new patients: identification of three novel ACP5 variants with variable neurological presentations.

Molecular genetics and genomics : MGG
2023

Analyses of thymocyte commitment to regulatory T cell lineage in thymus of healthy subjects and patients with 22q11.2 deletion syndrome.

Frontiers in immunology
2023

A systematic review of the association between smoking exposure and HPV-related cervical cell abnormality among women living with HIV: Implications for prevention strategies.

Preventive medicine
2023

Multiple Immune Defects in Two Patients with Novel DOCK2 Mutations Result in Recurrent Multiple Infection Including Live Attenuated Virus Vaccine.

Journal of clinical immunology
2023

The Impact of HIV Infection on Neoadjuvant and Adjuvant Chemotherapy Relative Dose Intensity in South African Patients with Breast Cancer.

The oncologist
2023

Imaging of Brain Structural and Functional Effects in People With Human Immunodeficiency Virus.

The Journal of infectious diseases
2022

A single-center study points to diverse features and outcome in patients with Hyperimmunoglobulin M Syndrome and Class- Switch Recombination defects.

Scandinavian journal of immunology
2023

Updated Management Guidelines for Adenosine Deaminase Deficiency.

The journal of allergy and clinical immunology. In practice
2022

Acute disseminated encephalitis in an adult patient addicted to heroin. Neuropathological, neuroradiological and clinical features.

Folia neuropathologica
2022

Skin manifestations of inborn errors of NF-κB.

Frontiers in pediatrics
2023

Adverse perinatal outcomes associated with prenatal exposure to protease-inhibitor-based versus non-nucleoside reverse transcriptase inhibitor-based antiretroviral combinations in pregnant women with HIV infection: a systematic review and meta-analysis.

BMC pregnancy and childbirth
2023

Disseminated nontuberculous mycobacterial infection in a patient with idiopathic CD4 lymphocytopenia and IFN-γ neutralizing antibodies: a case report.

BMC infectious diseases
2023

Is Your Kid Actin Out? A Series of Six Patients With Inherited Actin-Related Protein 2/3 Complex Subunit 1B Deficiency and Review of the Literature.

The journal of allergy and clinical immunology. In practice
2022

Case Report: Crossing a rugged road in a primary immune regulatory disorder.

Frontiers in pediatrics
2023

Selective ATM inhibition augments radiation-induced inflammatory signaling and cancer cell death.

Aging
2023

Late-onset enteric virus infection associated with hepatitis (EVAH) in transplanted SCID patients.

The Journal of allergy and clinical immunology
2023

Cardiovascular Disease Among Persons Living With HIV: New Insights Into Pathogenesis and Clinical Manifestations in a Global Context.

Circulation
2023

Lenacapavir administered every 26 weeks or daily in combination with oral daily antiretroviral therapy for initial treatment of HIV: a randomised, open-label, active-controlled, phase 2 trial.

The lancet. HIV
2023

Contrasting Cases of HIV Vasculopathy Associated Fusiform Aneurysms.

The Neurohospitalist
2022

Mapping age- and sex-specific HIV prevalence in adults in sub-Saharan Africa, 2000-2018.

BMC medicine
2023

HIV-associated multiple intracranial aneurysms and stroke in an adult patient: successful treatment with a combination of glucocorticoid and antiviral agents.

Journal of neurovirology
2023

Novel Loss of Function (G15D) Mutation on RAC2 in a Family with Combined Immunodeficiency and Increased Levels of Immunoglobulin G, A, and E.

Journal of clinical immunology
2023

The signal transducer and activator of transcription 3 at the center of the causative gene network of the hyper-IgE syndrome.

Current opinion in immunology
2022

Phenotypic expansion of EGP5-related Vici syndrome: 15 Dutch patients carrying a founder variant.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
2023

Knockout of SLy1 decreases double-negative thymocyte proliferation and protects mice from p53-induced tumor formation.

European journal of immunology
2022

Case report: ETS1 gene deletion associated with a low number of recent thymic emigrants in three patients with Jacobsen syndrome.

Frontiers in immunology
2022

Infections and immune dysregulation in ataxia-telangiectasia children with hyper-IgM and non-hyper-IgM phenotypes: A single-center experience.

Frontiers in pediatrics
2022

Whole-exome sequencing identified a homozygous novel RAG1 mutation in a child with omenn syndrome.

Allergologia et immunopathologia
2023

Hypoparathyroidism-Retardation-Dysmorphism Syndrome due to a Variant in the Tubulin-Specific Chaperone E Gene as a Cause of Combined Immune Deficiency.

Journal of clinical immunology
2023

Genotype and Phenotype of Adenosine Deaminase 2 Deficiency: a Report from Saudi Arabia.

Journal of clinical immunology
2022

IL-7: Comprehensive review.

Cytokine
2022

Nutritional aberration and related morphological disorders among patients with human immunodeficiency virus infection on combination antiretroviral therapy (cART) in Ghana: A retrospective study.

Heliyon
2022

Central nervous system aspergillosis misdiagnosed as Toxoplasma gondii encephalitis in a patient with AIDS: a case report.

AIDS research and therapy
2022

Congenital adrenal calcifications as the first clinical indication of sphingosine lyase insufficiency syndrome: A case report and review of the literature.

American journal of medical genetics. Part A
2022

Metabolic profiling of HIV infected individuals on an AZT-based antiretroviral treatment regimen reveals persistent oxidative stress.

Journal of pharmaceutical and biomedical analysis
2022

Functional Restoration of Exhausted CD8 T Cells in Chronic HIV-1 Infection by Targeting Mitochondrial Dysfunction.

Frontiers in immunology
2022

A Report of 2 Cases of Kidney Involvement in ADA2 Deficiency: Different Disease Phenotypes and the Tissue Response to Type I Interferon.

American journal of kidney diseases : the official journal of the National Kidney Foundation
2022

Hematopoietic Stem Cell Transplantation in ARPC1B Deficiency.

Journal of clinical immunology
2022

Childhood trauma and genetic variation in the DAT 40-bp VNTR contribute to HIV-associated neurocognitive disorders.

IBRO neuroscience reports
2022

Sirolimus Restores Erythropoiesis and Controls Immune Dysregulation in a Child With Cartilage-Hair Hypoplasia: A Case Report.

Frontiers in immunology
2022

In-utero exposure to immunosuppressive medications resulting in abnormal newborn screening for severe combined immunodeficiency: a case series on natural history and management.

Immunologic research
2022

Prominent Follicular Keratosis in Multiple Intestinal Atresia with Combined Immune Deficiency Caused by a TTC7A Homozygous Mutation.

Genes
2022

Dysmorphism and immunodeficiency - One of the differential diagnoses is PAX1 related otofaciocervical syndrome type 2.

European journal of medical genetics
2022

Deficiency of Human Adenosine Deaminase Type 2 - A Diagnostic Conundrum for the Hematologist.

Frontiers in immunology
2022

Gain-of-function IKZF1 variants in humans cause immune dysregulation associated with abnormal T/B cell late differentiation.

Science immunology
2022

Symptom- and chest-radiography screening for active pulmonary tuberculosis in HIV-negative adults and adults with unknown HIV status.

The Cochrane database of systematic reviews
2022

Progressive choreodystonia in X-linked hyper-IgM immunodeficiency: a rare but recurrent presentation.

Annals of clinical and translational neurology
2022

Effect of malaria and HIV/AIDS co-infection on red blood cell indices and its relation with the CD4 level of patients on HAART in Bench Sheko Zone, Southwest Ethiopia.

PloS one
2022

Concurrence of cat-scratch disease and paradoxical tuberculosis-IRIS lymphadenopathy: a case report.

BMC infectious diseases
2023

Immunologic Heterogeneity in 2 Cartilage-Hair Hypoplasia Patients With a Distinct Clinical Course.

Journal of investigational allergology &amp; clinical immunology
2021

Case Report: Unmanipulated Matched Sibling Donor Hematopoietic Cell Transplantation In TBX1 Congenital Athymia: A Lifesaving Therapeutic Approach When Facing a Systemic Viral Infection.

Frontiers in immunology
2021

FEATURES OF HIV/AIDS PHARMACOTHERAPY IN PREGNANT WOMEN.

Wiadomosci lekarskie (Warsaw, Poland : 1960)
2022

Pediatric Gastrointestinal Histopathology in Patients With Tetratricopeptide Repeat Domain 7A (TTC7A) Germline Mutations: A Rare Condition Leading to Multiple Intestinal Atresias, Severe Combined Immunodeficiency, and Congenital Enteropathy.

The American journal of surgical pathology
2021

Congenital Cytomegalovirus and Human Immunodeficiency Virus: Effects on Hearing, Speech and Language Development, and Clinical Outcomes in Children.

Frontiers in pediatrics
2021

Biological significance of MYC and CEBPD coamplification in urothelial carcinoma: Multilayered genomic, transcriptional and posttranscriptional positive feedback loops enhance oncogenic glycolysis.

Clinical and translational medicine
2021

Prolonged efavirenz exposure reduces peripheral oxytocin and vasopressin comparable to known drugs of addiction in male Sprague Dawley rats.

IBRO neuroscience reports
2022

Pulmonary manifestations in a cohort of patients with inborn errors of immunity: an 8-year follow-up study.

Allergologia et immunopathologia
2021

First patient in the Iranian Registry with novel DOCK2 gene mutation, presenting with skeletal tuberculosis, and review of literature.

Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology
2021

Metabolite and thymocyte development defects in ADA-SCID mice receiving enzyme replacement therapy.

Scientific reports
2021

Reticular Dysgenesis: A Rare Immunodeficiency in a Neonate With Cytopenias and Bacterial Sepsis.

Pediatrics
2021

Nonconditioned ADA-SCID gene therapy reveals ADA requirement in the hematopoietic system and clonal dominance of vector-marked clones.

Molecular therapy. Methods &amp; clinical development
2021

The Use of Induced Pluripotent Stem Cells to Study the Effects of Adenosine Deaminase Deficiency on Human Neutrophil Development.

Frontiers in immunology
2021

T and B cell abnormalities, pneumocystis pneumonia, and chronic lymphocytic leukemia associated with an AIOLOS defect in patients.

The Journal of experimental medicine
2021

Wolf-Hirschhorn Syndrome: Clinical and Genetic Study of 7 New Cases, and Mini Review.

Children (Basel, Switzerland)

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

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Comunidades

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Ordenadas pelo número de sintomas em comum.

Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Hematopoietic stem cell transplantation for purine nucleoside phosphorylase deficiency: an EBMT-IEWP retrospective study.
    Blood· 2026· PMID 40983033mais citado
  2. [Research progress on the involvement of glucose transporter-mediated cerebral glucose metabolism in the regulation of sepsis-associated encephalopathy].
    Zhonghua wei zhong bing ji jiu yi xue· 2026· PMID 41876250mais citado
  3. Case Report: a 28-year-old female patient presented with recurrent fevers and episodes of shock due to ZBTB24 pathogenic variant.
    Frontiers in immunology· 2026· PMID 41859080mais citado
  4. Altered neurovascular coupling in patients with human immunodeficiency virus-associated asymptomatic neurocognitive impairment: a multimodal magnetic resonance imaging study.
    Quantitative imaging in medicine and surgery· 2026· PMID 41816068mais citado
  5. Biallelic Variants in RNU6ATAC Result in a Minor Spliceopathy Characterized by Transcriptome-Wide Minor Intron Retention Events and Short Stature with Variable Multisystem Manifestations.
    HGG advances· 2026· PMID 41808409mais citado

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:221139(Orphanet)
  2. OMIM OMIM:613328(OMIM)
  3. MONDO:0013226(MONDO)
  4. GARD:17139(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Q55783990(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

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Compêndio · Raras BR

Imunodeficiência combinada com anomalias facio-óculo-esqueléticas

ORPHA:221139 · MONDO:0013226
Prevalência
<1 / 1 000 000
Casos
2 casos conhecidos
Herança
Multigenic/multifactorial
CID-10
Q87.8 · Outras síndromes com malformações congênitas especificadas, não classificadas em outra parte
CID-11
Início
Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C2750068
Wikidata
DiscussaoAtiva

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