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).
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
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 24 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 78 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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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.
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
NucleusChromosome, centromere, kinetochoreCytoplasm, cytoskeleton, spindle poleCytoplasm, cytoskeleton, microtubule organizing center
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.
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
Cytoplasm
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.
Variantes genéticas (ClinVar)
1,009 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
14 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
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
Hospital Infantil Albert Sabin
R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876
Serviço de Referência
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
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
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
Hospital Universitário da UFJF
R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442
Atenção Especializada
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
Hospital Universitário Julio Müller (HUJM)
R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092
Atenção Especializada
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital Universitário Lauro Wanderley (HULW)
R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470
Atenção Especializada
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital Pequeno Príncipe
R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805
Serviço de Referência
Hospital Universitário Regional de Maringá (HUM)
Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108
Atenção Especializada
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Hospital Universitário Pedro Ernesto (HUPE-UERJ)
Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221
Serviço de Referência
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
Hospital São Lucas da PUCRS
Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928
Serviço de Referência
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
Hospital Universitário da UFSC (HU-UFSC)
R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
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
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
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
UNIFESP / Hospital São Paulo
R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689
Serviço de Referência
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Hematopoietic stem cell transplantation for purine nucleoside phosphorylase deficiency: an EBMT-IEWP retrospective study.
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.
[Research progress on the involvement of glucose transporter-mediated cerebral glucose metabolism in the regulation of sepsis-associated encephalopathy].
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.
Case Report: a 28-year-old female patient presented with recurrent fevers and episodes of shock due to ZBTB24 pathogenic variant.
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.
Altered neurovascular coupling in patients with human immunodeficiency virus-associated asymptomatic neurocognitive impairment: a multimodal magnetic resonance imaging study.
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.
Biallelic Variants in RNU6ATAC Result in a Minor Spliceopathy Characterized by Transcriptome-Wide Minor Intron Retention Events and Short Stature with Variable Multisystem Manifestations.
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
[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 xueCase Report: a 28-year-old female patient presented with recurrent fevers and episodes of shock due to ZBTB24 pathogenic variant.
Frontiers in immunologyAltered neurovascular coupling in patients with human immunodeficiency virus-associated asymptomatic neurocognitive impairment: a multimodal magnetic resonance imaging study.
Quantitative imaging in medicine and surgeryBiallelic Variants in RNU6ATAC Result in a Minor Spliceopathy Characterized by Transcriptome-Wide Minor Intron Retention Events and Short Stature with Variable Multisystem Manifestations.
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Frontiers in immunologyDemographic, 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 medicineNeonatal erythroderma and immunodysplasia: Overlap of cartilage-hair hypoplasia and Omenn syndrome.
European journal of medical geneticsA 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 medicineDiagnosis 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 healthAn integrated platform for concurrent structural and single-nucleotide variants improves copy-number detection and reveals pathogenic alleles in undiagnosed Mendelian families.
Genome medicineTYK2 Deficiency Presenting as Refractory Disseminated BCG/Tuberculosis Infection in a Kazakh Child: A Case Report with Genetic Confirmation.
GenesSafety, 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 DiseasesFollow-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 SocietyAssociation of choroid plexus volume, glymphatic system markers, and cognitive impairment in HIV-associated neurocognitive disorders.
BMC infectious diseasesThe Skin Tells the Story: Early Signs of Inborn Errors of Immunity.
The journal of allergy and clinical immunology. In practiceThe safety of cabotegravir in pregnancy: a systematic review and meta-analysis.
BMC infectious diseasesThe Association Between Cannabis Use and Electrocardiographic Abnormalities in People Living With HIV.
Journal of acquired immune deficiency syndromes (1999)Early-onset neutropenia and mixed phenotype in ADA2 deficiency: diagnostic and therapeutic challenges.
Frontiers in immunologyDisseminated histoplasmosis in a patient without identified immunodeficiency: A case report.
International journal of infectious diseases : IJID : official publication of the International Society for Infectious DiseasesCVID Enteropathy Is Difficult To Treat and Shows a Heterogeneous Histopathology.
Journal of clinical immunologyCervical Cancer Screening in HIV-Positive Women by Conventional Exfoliative Cytology and Liquid-Based Cytology.
CureusOnce-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.
EBioMedicineHematopoietic stem cell transplantation for purine nucleoside phosphorylase deficiency: an EBMT-IEWP retrospective study.
BloodAbatacept restores dysregulated transcriptomic and proteomic profile in disorders of CTLA-4 insufficiency.
The Journal of allergy and clinical immunologyEvaluating birth outcomes following oral rilpivirine use in pregnancy in the United States: Findings from the antiretroviral pregnancy registry.
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Journal of microbiology, immunology, and infection = Wei mian yu gan ran za zhiSevere Combined Immunodeficiency in the Newborn Period.
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The Journal of experimental medicine[An autopsy case of non-drug related progressive multifocal leukoencephalopathy in a background of rheumatoid arthritis].
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Scientific reportsClinical and Immunological Features of a Large DiGeorge Syndrome Cohort.
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BMC infectious diseasesAntiretroviral-Induced Toxicity in Umbilical Cord Blood-Derived Haematopoietic Stem/Progenitor Cells.
Journal of cellular and molecular medicineJAK3-deficient mini-pigs exhibit impaired lymphoid organogenesis, intestinal structure, and leukocyte/cytokine production.
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Open medicine (Warsaw, Poland)DNA ligase IV deficiency identified in a patient with hypergonadotropic hypogonadism: a case report.
Journal of pediatric endocrinology & metabolism : JPEMAssociation between Insulin-Like Growth Factor Binding Protein-7 and Heart Failure.
Current medicinal chemistryApplication of whole-exome sequencing to predict inborn errors of immunity in pediatric severe infections and sepsis.
Clinical and experimental immunologyParallel 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.
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Revista de investigacion clinica; organo del Hospital de Enfermedades de la NutricionAn overview of proactive monitoring and management of respiratory issues in ataxia-telangiectasia in a specialist and shared care pediatric clinic.
Frontiers in pediatricsNovel IL2RG gene mutation causing primary combined immunodeficiency disease: A case report and literature review.
Central-European journal of immunologyReport of the Italian Cohort with Activated Phosphoinositide 3-Kinase δ Syndrome in the Target Therapy Era.
Journal of clinical immunologyCurrent landscape of monogenic autoinflammatory actinopathies: A literature review.
Autoimmunity reviewsCXCR4 antagonism ameliorates leukocyte abnormalities in a preclinical model of WHIM syndrome.
Frontiers in immunologyA rare case report of severe prostate abscess treated with artificial intelligence-assisted mpMRI-TRUS real-time-guided puncture drainage.
SAGE open medical case reportsTensor-valued diffusion MRI detects brain microstructural abnormalities in HIV infected individuals with cognitive impairment.
Scientific reportsVizCNV: An integrated platform for concurrent phased BAF and CNV analysis with trio genome sequencing data.
bioRxiv : the preprint server for biologyDefective kinase activity of IKKα leads to combined immunodeficiency and disruption of immune tolerance in humans.
Nature communicationsDecreased TREC and KREC levels in newborns with trisomy 21.
Frontiers in pediatricsImmuno-hematological parameters among adult HIV patients before and after initiation of Dolutegravir based antiretroviral therapy, Addis Ababa, Ethiopia.
PloS oneVirologically suppressed switch to Dolutegravir/Lamivudine 2-Drug regimen versus switch to commonly prescribed 3-Drug regimens in the United States.
AIDS research and therapyAbnormal spirometric patterns and respiratory symptoms in HIV patients with no recent pulmonary infection in a periurban hospital in Ghana.
PloS oneEffect 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.
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Allergologie selectBiallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia.
Journal of clinical immunologyCorrigendum: Abnormalities of thymic stroma may contribute to immune dysregulation in murine models of leaky severe combined immunodeficiency.
Frontiers in immunologyEarly bone marrow alterations in patients with adenosine deaminase 2 deficiency across disease phenotypes and severities.
The Journal of allergy and clinical immunologyThe ICF2 gene Zbtb24 specifically regulates the differentiation of B1 cells via promoting heme synthesis.
Cellular & molecular biology lettersAbnormal Immune Profile in Individuals with Kabuki Syndrome.
Journal of clinical immunologyIdentification and validation of coagulation and fibrinolytic-related diagnostic biomarkers for ulcerative colitis by bioinformatics analysis.
MedicineA randomised control trial of BIC/F/TAF vs DRV/c/F/TAF in context of HIV test-and-treat, BicTnT.
HIV research & clinical practiceUnveiling genetic variants: Tetra-primer ARMS-PCR diagnosis and structural insights into BLAD, BC, and DUMPS in Pakistani cattle herds.
Molecular biology reportsA Novel Variant of the PIK3R1 Gene Mutation Associated With SHORT Syndrome and Agammaglobulinemia.
CureusMRI Assessment of Diastolic Dysfunction in People Living With the Human Immunodeficiency Virus: Correlation With Markers of Disease Activity.
Journal of magnetic resonance imaging : JMRIA Clinical Neurological Approach to the Child With Adenosine Deaminase Deficiency.
Pediatric neurologyCervical cancer screening integrated in routine clinical care of women with HIV.
AIDS (London, England)Discovery of pathogenic variants in EFEMP2 and RAG1 and undetectable fetal phenotype: A challenge of prenatal exome sequencing.
Prenatal diagnosisIdiopathic pulmonary hemosiderosis associated with Kabuki syndrome.
Immunological medicineFluoxetine Successfully Treats Intracranial Enterovirus E18 Infection in a Patient with CD79a Deficiency Arising from Segmental Uniparental Disomy of Chromosome 19.
Journal of clinical immunologyNUDCD3 deficiency disrupts V(D)J recombination to cause SCID and Omenn syndrome.
Science immunologyAcute promyelocytic leukemia with additional chromosome abnormalities in a patient positive for HIV: A case report and literature review.
Oncology lettersAltered oral microbiome, but normal human papilloma virus prevalence in cartilage-hair hypoplasia patients.
Orphanet journal of rare diseasesPharmacokinetics 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. HIVParental Engagement in Identifying Information Needs After Newborn Screening for Families of Infants with Suspected Athymia.
Journal of clinical immunologyIncreased mortality in infants with abnormal T-cell receptor excision circles.
Pediatric researchPhenotypic spectrum in a family with a novel RAC2 p.I21S dominant-activating mutation.
Clinical & translational immunologyMeconium peritonitis in multiple intestinal atresia with combined immune deficiency caused by a TTC7A mutation: A case report.
SAGE open medical case reportsThe Upper-gastrointestinal Endoscopic Findings of People Living with HIV: A Systematic Review.
Current HIV researchClinical characteristics and prognosis of pediatric Listeria monocytogenes meningitis based on 10-year data from a large children's hospital in China.
Microbiology spectrumPrimary and secondary defects of the thymus.
Immunological reviewsLoss of helicase C-terminal domain of SMARCAL1 protein associated with severe Schimke immuno-osseous dysplasia.
Pathology, research and practiceClinical and functional spectrum of RAC2-related immunodeficiency.
BloodShorter 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. GlobalHIV-1 infection and the hematopoietic microenvironment.
AIDS reviewsEvaluation of Clinical and Immunological Alterations Associated with ICF Syndrome.
Journal of clinical immunologyLarge-scale deep learning analysis to identify adult patients at risk for combined and common variable immunodeficiencies.
Communications medicineCarotid Intima-Media Thickness and Metabolic Complications in Children with HIV on Antiretroviral Therapy: A Cross-Sectional Study.
Indian journal of pediatricsAtaxia-telangiectasia and combined hepatocellular-cholangiocarcinoma: A case report.
Indian journal of pathology & microbiologyNon-conditioned cord blood transplantation for infection control in athymic CHARGE syndrome.
Pediatric blood & cancerLearning from cerebrospinal fluid drug-resistant HIV escape-associated encephalitis: a case report.
Virology journalTime to Cancer Treatment and Chemotherapy Relative Dose Intensity for Patients With Breast Cancer Living With HIV.
JAMA network openCommon variable immunodeficiency, cross currents, and prevailing winds.
Immunological reviewsCentral Nervous System Lymphoma.
Seminars in neurologyImmune dysfunction in patients with end stage kidney disease; Immunosenescence - Review.
Romanian journal of internal medicine = Revue roumaine de medecine interneTolerability and effectiveness of albuvirtide combined with dolutegravir for hospitalized people living with HIV/AIDS.
MedicineCutaneous vasculitis in autoinflammatory diseases.
The Journal of dermatologyFDG-Avid Granulomatous Lymphocytic Interstitial Lung Disease With Common Variable Immunodeficiency.
Clinical nuclear medicineNeurologic Status of Patients with Purine Nucleoside Phosphorylase Deficiency Before and After Hematopoetic Stem Cell Transplantation.
Journal of clinical immunologyImpact of newborn screening for SCID on the management of congenital athymia.
The Journal of allergy and clinical immunologyMyocardial extracellular volume fraction is positively associated with activated monocyte subsets among cART-treated persons living with HIV in South Africa.
International journal of cardiologySchimke immuno-osseous dysplasia. A case report in Colombia.
Molecular genetics and metabolism reports[Monogenic auto-inflammatory diseases associated with actinopathies: A review of the literature].
La Revue de medecine interneLongitudinal analysis of immune reconstitution and metabolic changes in women living with HIV: A real-world observational study.
Chinese medical journalCommon 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 immunologyA Narrative Review of the Neurological Manifestations of Human Adenosine Deaminase 2 Deficiency.
Journal of clinical immunology[Clinical features of non-cirrhotic portal hypertension in patients with common variable immunodeficiency].
Zhonghua nei ke za zhiDonor 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 investigationB cell abnormalities and autoantibody production in patients with partial RAG deficiency.
Frontiers in immunologyAllogeneic hematopoietic stem cell transplantation corrects ligase IV deficiency.
Transplant immunologyAdvanced computational analysis of CD40LG variants in atypical X-linked hyper-IgM syndrome.
Clinical immunology (Orlando, Fla.)Microalbuminuria in Perinatally HIV-Infected Children and Adolescents in the United States.
Open forum infectious diseasesRapidly 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 medicineCombined novel homozygous variants in both SGPL1 and STAT1 presenting with severe combined immune deficiency: case report and literature review.
Frontiers in immunologyCerebral abnormalities in HIV-infected individuals with neurocognitive impairment revealed by fMRI.
Scientific reportsScreening 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[Good syndrome: a rare, unusual immunodeficiency condition].
Orvosi hetilapSevere combined immunodeficiency: improved survival leading to detection of underlying liver disease.
BMC gastroenterologyAssociation between cardio-ankle vascular index and cardiometabolic risk factors in HIV patients in Ghana.
The Libyan journal of medicineMolecular Factors and Pathways of Hepatotoxicity Associated with HIV/SARS-CoV-2 Protease Inhibitors.
International journal of molecular sciencesEfficacy 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. HIVDelayed-onset adenosine deaminase deficiency with a novel synonymous mutation and a case series from China.
World journal of pediatrics : WJPMicrobiome and Its Dysbiosis in Inborn Errors of Immunity.
Pathogens (Basel, Switzerland)Epigenetic activation of the TUSC3 gene as a potential therapy for XMEN disease.
The Journal of allergy and clinical immunologyShort-term toxicity assessment of combined use of zidovudine, lamivudine and lopinavir/ritonavir in vitro and in vivo.
Basic & clinical pharmacology & toxicologySpondyloenchondrodysplasia in five new patients: identification of three novel ACP5 variants with variable neurological presentations.
Molecular genetics and genomics : MGGAnalyses of thymocyte commitment to regulatory T cell lineage in thymus of healthy subjects and patients with 22q11.2 deletion syndrome.
Frontiers in immunologyA systematic review of the association between smoking exposure and HPV-related cervical cell abnormality among women living with HIV: Implications for prevention strategies.
Preventive medicineMultiple Immune Defects in Two Patients with Novel DOCK2 Mutations Result in Recurrent Multiple Infection Including Live Attenuated Virus Vaccine.
Journal of clinical immunologyThe Impact of HIV Infection on Neoadjuvant and Adjuvant Chemotherapy Relative Dose Intensity in South African Patients with Breast Cancer.
The oncologistImaging of Brain Structural and Functional Effects in People With Human Immunodeficiency Virus.
The Journal of infectious diseasesA single-center study points to diverse features and outcome in patients with Hyperimmunoglobulin M Syndrome and Class- Switch Recombination defects.
Scandinavian journal of immunologyUpdated Management Guidelines for Adenosine Deaminase Deficiency.
The journal of allergy and clinical immunology. In practiceAcute disseminated encephalitis in an adult patient addicted to heroin. Neuropathological, neuroradiological and clinical features.
Folia neuropathologicaSkin manifestations of inborn errors of NF-κB.
Frontiers in pediatricsAdverse 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 childbirthDisseminated nontuberculous mycobacterial infection in a patient with idiopathic CD4 lymphocytopenia and IFN-γ neutralizing antibodies: a case report.
BMC infectious diseasesIs 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 practiceCase Report: Crossing a rugged road in a primary immune regulatory disorder.
Frontiers in pediatricsSelective ATM inhibition augments radiation-induced inflammatory signaling and cancer cell death.
AgingLate-onset enteric virus infection associated with hepatitis (EVAH) in transplanted SCID patients.
The Journal of allergy and clinical immunologyCardiovascular Disease Among Persons Living With HIV: New Insights Into Pathogenesis and Clinical Manifestations in a Global Context.
CirculationLenacapavir 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. HIVContrasting Cases of HIV Vasculopathy Associated Fusiform Aneurysms.
The NeurohospitalistMapping age- and sex-specific HIV prevalence in adults in sub-Saharan Africa, 2000-2018.
BMC medicineHIV-associated multiple intracranial aneurysms and stroke in an adult patient: successful treatment with a combination of glucocorticoid and antiviral agents.
Journal of neurovirologyNovel 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 immunologyThe signal transducer and activator of transcription 3 at the center of the causative gene network of the hyper-IgE syndrome.
Current opinion in immunologyPhenotypic 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 SocietyKnockout of SLy1 decreases double-negative thymocyte proliferation and protects mice from p53-induced tumor formation.
European journal of immunologyCase report: ETS1 gene deletion associated with a low number of recent thymic emigrants in three patients with Jacobsen syndrome.
Frontiers in immunologyInfections and immune dysregulation in ataxia-telangiectasia children with hyper-IgM and non-hyper-IgM phenotypes: A single-center experience.
Frontiers in pediatricsWhole-exome sequencing identified a homozygous novel RAG1 mutation in a child with omenn syndrome.
Allergologia et immunopathologiaHypoparathyroidism-Retardation-Dysmorphism Syndrome due to a Variant in the Tubulin-Specific Chaperone E Gene as a Cause of Combined Immune Deficiency.
Journal of clinical immunologyGenotype and Phenotype of Adenosine Deaminase 2 Deficiency: a Report from Saudi Arabia.
Journal of clinical immunologyIL-7: Comprehensive review.
CytokineNutritional aberration and related morphological disorders among patients with human immunodeficiency virus infection on combination antiretroviral therapy (cART) in Ghana: A retrospective study.
HeliyonCentral nervous system aspergillosis misdiagnosed as Toxoplasma gondii encephalitis in a patient with AIDS: a case report.
AIDS research and therapyCongenital 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 AMetabolic profiling of HIV infected individuals on an AZT-based antiretroviral treatment regimen reveals persistent oxidative stress.
Journal of pharmaceutical and biomedical analysisFunctional Restoration of Exhausted CD8 T Cells in Chronic HIV-1 Infection by Targeting Mitochondrial Dysfunction.
Frontiers in immunologyA 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 FoundationHematopoietic Stem Cell Transplantation in ARPC1B Deficiency.
Journal of clinical immunologyChildhood trauma and genetic variation in the DAT 40-bp VNTR contribute to HIV-associated neurocognitive disorders.
IBRO neuroscience reportsSirolimus Restores Erythropoiesis and Controls Immune Dysregulation in a Child With Cartilage-Hair Hypoplasia: A Case Report.
Frontiers in immunologyIn-utero exposure to immunosuppressive medications resulting in abnormal newborn screening for severe combined immunodeficiency: a case series on natural history and management.
Immunologic researchProminent Follicular Keratosis in Multiple Intestinal Atresia with Combined Immune Deficiency Caused by a TTC7A Homozygous Mutation.
GenesDysmorphism and immunodeficiency - One of the differential diagnoses is PAX1 related otofaciocervical syndrome type 2.
European journal of medical geneticsDeficiency of Human Adenosine Deaminase Type 2 - A Diagnostic Conundrum for the Hematologist.
Frontiers in immunologyGain-of-function IKZF1 variants in humans cause immune dysregulation associated with abnormal T/B cell late differentiation.
Science immunologySymptom- and chest-radiography screening for active pulmonary tuberculosis in HIV-negative adults and adults with unknown HIV status.
The Cochrane database of systematic reviewsProgressive choreodystonia in X-linked hyper-IgM immunodeficiency: a rare but recurrent presentation.
Annals of clinical and translational neurologyEffect 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 oneConcurrence of cat-scratch disease and paradoxical tuberculosis-IRIS lymphadenopathy: a case report.
BMC infectious diseasesImmunologic Heterogeneity in 2 Cartilage-Hair Hypoplasia Patients With a Distinct Clinical Course.
Journal of investigational allergology & clinical immunologyCase Report: Unmanipulated Matched Sibling Donor Hematopoietic Cell Transplantation In TBX1 Congenital Athymia: A Lifesaving Therapeutic Approach When Facing a Systemic Viral Infection.
Frontiers in immunologyFEATURES OF HIV/AIDS PHARMACOTHERAPY IN PREGNANT WOMEN.
Wiadomosci lekarskie (Warsaw, Poland : 1960)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 pathologyCongenital Cytomegalovirus and Human Immunodeficiency Virus: Effects on Hearing, Speech and Language Development, and Clinical Outcomes in Children.
Frontiers in pediatricsBiological significance of MYC and CEBPD coamplification in urothelial carcinoma: Multilayered genomic, transcriptional and posttranscriptional positive feedback loops enhance oncogenic glycolysis.
Clinical and translational medicineProlonged efavirenz exposure reduces peripheral oxytocin and vasopressin comparable to known drugs of addiction in male Sprague Dawley rats.
IBRO neuroscience reportsPulmonary manifestations in a cohort of patients with inborn errors of immunity: an 8-year follow-up study.
Allergologia et immunopathologiaFirst 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 ImmunologyMetabolite and thymocyte development defects in ADA-SCID mice receiving enzyme replacement therapy.
Scientific reportsReticular Dysgenesis: A Rare Immunodeficiency in a Neonate With Cytopenias and Bacterial Sepsis.
PediatricsNonconditioned ADA-SCID gene therapy reveals ADA requirement in the hematopoietic system and clonal dominance of vector-marked clones.
Molecular therapy. Methods & clinical developmentThe Use of Induced Pluripotent Stem Cells to Study the Effects of Adenosine Deaminase Deficiency on Human Neutrophil Development.
Frontiers in immunologyT and B cell abnormalities, pneumocystis pneumonia, and chronic lymphocytic leukemia associated with an AIOLOS defect in patients.
The Journal of experimental medicineWolf-Hirschhorn Syndrome: Clinical and Genetic Study of 7 New Cases, and Mini Review.
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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.
- Hematopoietic stem cell transplantation for purine nucleoside phosphorylase deficiency: an EBMT-IEWP retrospective study.
- [Research progress on the involvement of glucose transporter-mediated cerebral glucose metabolism in the regulation of sepsis-associated encephalopathy].
- Case Report: a 28-year-old female patient presented with recurrent fevers and episodes of shock due to ZBTB24 pathogenic variant.
- Altered neurovascular coupling in patients with human immunodeficiency virus-associated asymptomatic neurocognitive impairment: a multimodal magnetic resonance imaging study.
- Biallelic Variants in RNU6ATAC Result in a Minor Spliceopathy Characterized by Transcriptome-Wide Minor Intron Retention Events and Short Stature with Variable Multisystem Manifestations.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:221139(Orphanet)
- OMIM OMIM:613328(OMIM)
- MONDO:0013226(MONDO)
- GARD:17139(GARD (NIH))
- Variantes catalogadas(ClinVar)
- 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.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar