Raras
Buscar doenças, sintomas, genes...
Espectro clínico de imunodeficiência combinada-enteropatia
ORPHA:436252CID-10 · Q82.8DOENÇA RARA

Doença hereditária rara caracterizada por obstrução intestinal e deficiência imunológica combinada profunda.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Doença hereditária rara caracterizada por obstrução intestinal e deficiência imunológica combinada profunda.

🏥
SUS: Cobertura mínimaScore: 35%
Centros em: PA, PR, SC, RS, ES +10CID-10: Q82.8
🇧🇷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
Você se identifica com essa condição?
O Raras está aqui pra te apoiar — com ou sem diagnóstico

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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

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

Partes do corpo afetadas

🫃
Digestivo
13 sintomas
🧠
Neurológico
8 sintomas
🩸
Sangue
6 sintomas
😀
Face
5 sintomas
👁️
Olhos
4 sintomas
🫁
Pulmão
4 sintomas

+ 25 sintomas em outras categorias

Características mais comuns

90%prev.
Imunodeficiência combinada grave
Muito frequente (99-80%)
90%prev.
Atresia gastrointestinal
Muito frequente (99-80%)
90%prev.
Calcificação ectópica
Muito frequente (99-80%)
90%prev.
Atresia intestinal
Muito frequente (99-80%)
55%prev.
Diarreia sanguinolenta
Frequente (79-30%)
55%prev.
Ulceração jejunoileal
Frequente (79-30%)
87sintomas
Muito frequente (4)
Frequente (8)
Ocasional (8)
Muito raro (10)
Sem dados (57)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 87 características clínicas mais associadas, ordenadas por frequência.

Imunodeficiência combinada graveSevere combined immunodeficiency
Muito frequente (99-80%)90%
Atresia gastrointestinalGastrointestinal atresia
Muito frequente (99-80%)90%
Calcificação ectópicaEctopic calcification
Muito frequente (99-80%)90%
Atresia intestinalIntestinal atresia
Muito frequente (99-80%)90%
Diarreia sanguinolentaBloody diarrhea
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2025
Últimos 10 anos96publicações
Pico202115 papers
Linha do tempo
2025Hoje · 2026📈 2021Ano 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.

Autosomal recessive
PI4KAPhosphatidylinositol 4-kinase alphaDisease-causing germline mutation(s) inRestrito
FUNÇÃO

Acts on phosphatidylinositol (PtdIns) in the first committed step in the production of the second messenger inositol-1,4,5,-trisphosphate

LOCALIZAÇÃO

CytoplasmCell membrane

VIAS BIOLÓGICAS (2)
Synthesis of PIPs at the Golgi membraneSynthesis of PIPs at the ER membrane
MECANISMO DE DOENÇA

Neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities

A severe autosomal recessive disorder characterized by global developmental delay with impaired intellectual development and poor or absent speech, axial hypotonia, and peripheral spasticity and hyperreflexia. Brain imaging shows hypomyelination with decreased white matter volume, cerebral and cerebellar atrophy, and thin corpus callosum. Polymicrogyria may be observed in rare cases. Some patients have a primary immunodeficiency or gastrointestinal disturbances similar to inflammatory bowel disease.

EXPRESSÃO TECIDUAL(Ubíquo)
Córtex cerebral
113.3 TPM
Cerebelo
110.8 TPM
Cérebro - Hemisfério cerebelar
103.0 TPM
Brain Frontal Cortex BA9
100.3 TPM
Útero
66.4 TPM
OUTRAS DOENÇAS (5)
polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposisgastrointestinal defects and immunodeficiency syndrome 2spastic paraplegia 84, autosomal recessivebilateral perisylvian polymicrogyria
HGNC:8983UniProt:P42356
TTC7ATetratricopeptide repeat protein 7ADisease-causing germline mutation(s) (loss of function) inTolerante
FUNÇÃO

Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane (PubMed:23229899, PubMed:24417819). The complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis (Probable). In the complex, plays a central role in bridging PI4KA to EFR3B and HYCC1, via direct interactions (By similarity)

LOCALIZAÇÃO

CytoplasmCell membrane

MECANISMO DE DOENÇA

Gastrointestinal defects and immunodeficiency syndrome 1

An autosomal recessive congenital disorder in which obstructions occur at various levels throughout the small and large intestines, ultimately leading to organ failure. Surgical interventions are palliative but do not provide long-term survival. Some patients exhibit inflammatory bowel disease (IBD), with or without intestinal atresia, and in some cases, the intestinal features are associated with either mild or severe combined immunodeficiency.

EXPRESSÃO TECIDUAL(Ubíquo)
Testículo
96.6 TPM
Tireoide
32.9 TPM
Glândula adrenal
31.8 TPM
Fibroblastos
31.7 TPM
Pulmão
30.8 TPM
OUTRAS DOENÇAS (2)
gastrointestinal defects and immunodeficiency syndrome 1gastrointestinal defect and immunodeficiency syndrome
HGNC:19750UniProt:Q9ULT0

Variantes genéticas (ClinVar)

598 variantes patogênicas registradas no ClinVar.

🧬 PI4KA: GRCh38/hg38 22q11.21(chr22:18919477-21459713)x3 ()
🧬 PI4KA: GRCh38/hg38 22q11.21(chr22:19017218-21105423)x1 ()
🧬 PI4KA: GRCh38/hg38 22q11.21(chr22:18161474-21110475)x3 ()
🧬 PI4KA: GRCh38/hg38 22q11.21(chr22:18929330-21110475)x1 ()
🧬 PI4KA: GRCh38/hg38 22q11.21(chr22:18153983-21110475)x3 ()
Ver todas no ClinVar

Vias biológicas (Reactome)

2 vias biológicas associadas aos genes desta condição.

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 — Espectro clínico de imunodeficiência combinada-enteropatia

Centros de Referência SUS

24 centros habilitados pelo SUS para Espectro clínico de imunodeficiência combinada-enteropatia

Centros para Espectro clínico de imunodeficiência combinada-enteropatia

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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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Establishment and validation of a nomogram to predict thirty-day unplanned reoperations of primary anastomosis in neonates with intestinal atresias.

Frontiers in pediatrics2025

Unplanned reoperation rates becoming a critical metric for evaluating healthcare quality and have received increasing attention in recent years. Intestinal atresia (IA) has a high rate of unplanned reoperations. The purpose of this study is to evaluate the thirty-day unplanned reoperation rates and their risk factors in neonates with intestinal atresias after primary anastomosis surgery, and to construct a predictive nomogram. We developed and internally validated a predictive model from a retrospective cohort of 200 neonates admitted to our hospital for primary anastomosis surgery. The primary outcome was thirty-day unplanned reoperation rates. Independent factors significantly associated with thirty-day unplanned reoperation rates were identified using multivariable logistic regression analysis. The effectiveness of the developed nomogram was evaluated through calibration, discrimination, and clinical utility. The incidence of thirty-day unplanned reoperation rates was 11%. Multivariable analysis identified the type of bowel anastomosis and combined meconium peritonitis as independent factors predicting thirty-day unplanned reoperation rates. The derivation model showed good discrimination, with a C-index of 0.791 (95% CI, 0.685-0.897), and good calibration (Hosmer-Lemeshow test P = 0.231). The analysis of the decision curve showed that the nomogram was beneficial in clinical practice. We developed a nomogram to predict thirty-day unplanned reoperations of primary anastomosis in neonates with IA. This prediction model may enable assist in clinical decision-making, patient counseling, and treatment planning.

#2

Exploring the current usage of and attitudes towards transanastomotic tube (TAT) feeding in infants born with duodenal atresia: a survey of practice in the UK.

BMJ paediatrics open2025 Mar 18

Despite evidence demonstrating clinical and cost benefits of transanastomotic tubes (TATs), following repair of congenital duodenal obstruction they are used in a minority of infants in the UK. Most infants are fed using parenteral nutrition (PN) (sometimes in combination with a TAT). This variation is unexplained by clinical or demographic factors. We aimed to understand why this is and the barriers to practice change. UK-based clinicians (surgeons, neonatologists, dietitians and specialist nurses) completed an online mixed methods survey. Open-ended replies were summarised thematically. Data were analysed using descriptive and inferential statistics. 109 clinicians (24 neonatologists, 7 nurses, 3 dietitians, 75 surgeons) from all 25 UK neonatal surgical units completed the survey. 88% (n=96/109) stated TAT use was decided solely by surgeons, driven primarily by considerations of providing appropriate nutrition and risks; 36% of surgeons felt TATs should always be used where possible. Decisions about central venous catheters (CVCs) were made by neonatologists (28%, n=31/109), surgeons (17%, n=18/109), jointly (48%, n=52/109) or 'other' (7%, n=8/109). Neonatologists and surgeons prioritised providing appropriate nutrition and risks when deciding whether to use CVCs/PN; surgeons rated a lack of supporting research and TATs' risks as key barriers to TAT usage. Costs and parents' preferences had limited influence on TAT and PN usage. Increased TAT usage requires surgeons to be persuaded of TATs' efficacy and safety, and neonatologist recognition that exclusive TAT feeding (ie, without CVCs/PN) can provide adequate nutrition. Further work is required to appreciate how best to achieve this.

#3

Liver Transplantation in Childhood: A 2-Year Single Center Experience.

Transplantation proceedings2025 Nov

Liver transplantation is currently the most treatment for fulminant hepatitis, end-stage liver failure, hepatocellular carcinoma, and liver-originated metabolic diseases in children. With technological advances, improvements in surgical techniques and immunosuppressive therapy protocols have increased 1-year survival rates to 80%-90%. Our center successfully performs both living donor and cadaveric liver transplants in children. This study retrospectively analyzed the preoperative and postoperative data of 72 pediatric patients who underwent liver transplantation between July 2022 and July 2024. We included 72 patients who underwent liver transplantation between July 1, 2022, and July 1, 2024. Cases were evaluated based on demographic data, liver failure etiology, and postoperative complications. Of the cases, 37 were female (58%) and 35 male (42%), with a mean age of 6.6 years (ranging from 5 months to 17 years and 11 months). Indications included biliary atresia (25), autoimmune hepatitis (9), cryptogenic cirrhosis (7), PFIC (7), congenital hepatic fibrosis (1), Caroli disease (2), Wilson's disease (4), Alagille syndrome (3), hepatocellular carcinoma (2), primary hyperoxaluria type 1 (2), Crigler Najjar syndrome type 1 (3), Budd-Chiari syndrome (1), glycogen storage disease type 3 (1), portal vein thrombosis (1), and acute fulminant hepatitis (4). Mean PELD score for patients under 12 years was 18 (range 0-37), and MELD score for patients over 12 years was 19.3 (range 11-40). A total of 69 patients received orthotopic liver transplantation from living donors. Two patients received combined liver and kidney transplants, and 1 received a cadaveric liver transplant. Donors included 40 females and 32 males. Left lobe transplants were performed in 58 patients, and right lobe in 14. Immunosuppression included Tacrolimus + MMF in 70 patients and Cyclosporine in 2. Postoperative complications included biliary anastomosis stenosis (3), bile leakage (2), hepatic vein thrombosis (1), portal vein thrombosis (4), intestinal perforation secondary to Bogota syndrome (5), PRES syndrome due to Tacrolimus toxicity (1), primary graft dysfunction (1), and postoperative bleeding (2). Within the first month, 12 patients (16.6%) died, and 3 (4%) died between 1 month and 1 year postoperatively. The most common early cause of death was sepsis and multiorgan failure. One patient developed chronic rejection but recovered with steroid immunosuppression without the need for re-transplantation. Liver transplantation is a high-risk procedure requiring lifelong medication and follow-up. It is, however, the most effective treatment method for several severe pediatric liver conditions.

#4

Genotype-Phenotype Correlation in TTC7A -Associated Gastrointestinal Defects and Immunodeficiency Syndrome 1.

American journal of medical genetics. Part A2025 Dec

Gastrointestinal defects and immunodeficiency syndrome 1 (GIDID1) is a rare autosomal recessive disorder caused by biallelic variants in TTC7A. GIDID1 is characterized by a broad clinical spectrum ranging from very early-onset inflammatory bowel disease (VEOIBD) to multiple intestinal atresia (MIA) with or without immunological manifestations. We report a patient born to consanguineous parents carrying a novel homozygous TTC7A loss-of-function (LOF) variant, NM_001288951.2:c.1322_1323del; p.(Val441Glufs*57). The patient presented with MIA, requiring permanent parenteral nutrition, combined immunodeficiency, anemia, and congenital heart defects, and died at 11 months of age. To improve prognostic insights, we performed a systematic literature review and genotype-phenotype correlation analysis on 87 genetically revised patients, including our case. Our findings confirm a strong association between biallelic TTC7A LOF variants and MIA with (severe) combined immunodeficiency, often necessitating parenteral nutrition. In contrast, biallelic TTC7A missense variants were more frequently linked to milder GIDID1-associated phenotypes, such as VEOIBD. The presence of at least one TTC7A LOF variant correlated with a stronger reduced life expectancy, with a median survival of 9 months compared to 33.5 months in patients with biallelic TTC7A missense variants. Our findings refine genotype-phenotype correlations of TTC7A-associated GIDID1, providing valuable insights for genetic counseling, disease management, and treatment strategies.

#5

Factors influencing early surgical outcomes of intestinal atresia in a resource-limited tertiary center.

Pediatric surgery international2025 Jul 05

Intestinal atresia is a congenital anomaly characterized by a complete obstruction of the intestinal lumen. This study aims to identify factors influencing outcomes in affected infants to inform targeted interventions and improve their care. This study employed a hybrid cohort design combining retrospective chart review with prospective data collection of patients surgically managed with intestinal atresia at a tertiary center over 5 years. Statistical analysis was performed using SPSS version 25.0, and p value of < 0.05 was considered statistically significant. 82 patients with intestinal atresia were included; females comprised 61% (F:M ratio 1.56:1). The mean birth weight was 2499 ± 705 g, and the mean gestational age was 36.5 ± 2.5 weeks. Prenatal diagnosis was made in 23.2%, while 43.6% had associated anomalies. Intraoperatively, findings revealed obstruction in the duodenum (37.8%), jejunum (29.3%), ileum (29.3%), and colon (3.6%). Duodenal atresia was primarily managed with diamond-shaped duodenoduodenostomy (90.3%), while jejunal, ileal, and colonic atresia were managed with resection and anastomosis. Mortality was 42.7%, and sepsis (28.6%) and respiratory insufficiency (26%) were the leading causes of death. Prematurity was significantly associated as an independent risk factor for mortality. Neonatal survival in our country remains poor compared to developed nations, with mortality influenced by premature deliveries, inefficient perioperative care, and postoperative complications.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 96

2025

Establishment and validation of a nomogram to predict thirty-day unplanned reoperations of primary anastomosis in neonates with intestinal atresias.

Frontiers in pediatrics
2025

Liver Transplantation in Childhood: A 2-Year Single Center Experience.

Transplantation proceedings
2025

Genotype-Phenotype Correlation in TTC7A -Associated Gastrointestinal Defects and Immunodeficiency Syndrome 1.

American journal of medical genetics. Part A
2025

Factors influencing early surgical outcomes of intestinal atresia in a resource-limited tertiary center.

Pediatric surgery international
2025

Characterization of the intestinal microorganism in patients with congenital intestinal atresia: the preliminary exploration for establishment and influence of initial intestinal flora in newborns.

BMC microbiology
2025

Transverse colonic atresia with rectal atresia in a neonate - A rare case of double-site intestinal atresia.

International journal of surgery case reports
2025

Exploring the current usage of and attitudes towards transanastomotic tube (TAT) feeding in infants born with duodenal atresia: a survey of practice in the UK.

BMJ paediatrics open
2025

Developmental and Genetic Considerations in a Neonate With Pectus Excavatum, Bilateral Hydroceles, Indirect Inguinal Hernia, and Type 2 Ileal Atresia.

Cureus
2024

Prenatal diagnosis of midgut volvulus by fetal MRI: a retrospective study.

Frontiers in pediatrics
2024

Thirty-two-month-old with multiple duodenal webs diagnosed after failed gastrojejunostomy exchange successfully treated with combination endoscopic therapy.

JPGN reports
2025

Hereditary Multiple Intestinal Atresia With a Novel TTC7A Pathogenic Variant: Gastrointestinal Manifestations in Two Cases.

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
2024

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

Journal of clinical immunology
2024

Utility of the web excision with pre-membranous incision for congenital intestinal atresia-type I and stenosis.

BMC pediatrics
2024

Jejunal Atresia With a Rare Association: A Case Report and Literature Review.

Cureus
2024

Laparoscopic repair of duodenal atresia: systematic review and meta-analysis after consistent implementation of the technique in the past decade.

Surgical endoscopy
2024

An innovative surgical treatment method in persistent rectal prolapse: Ventral abdomino-rectosigmoidopexy through tube sigmoidostomy combined with Ekehorn's rectopexy.

Northern clinics of Istanbul
2024

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

SAGE open medical case reports
2023

Exencephaly-Anencephaly Sequence Associated with Maxillary Brachygnathia, Spinal Defects, and Palatoschisis in a Male Domestic Cat.

Animals : an open access journal from MDPI
2023

Two salvage techniques using a large dilation balloon: Endoscopic recovery of a migrated biliary metal stent and endoscope passage through a difficult duodenal stricture in combination with a duodenal stent.

Journal of hepato-biliary-pancreatic sciences
2023

A rare occurrence of multiple intestinal atresias, with successful one-procedure resection and primary anastomosis.

South African journal of surgery. Suid-Afrikaanse tydskrif vir chirurgie
2023

Imaging Features of Neonatal Bowel Obstruction.

Radiographics : a review publication of the Radiological Society of North America, Inc
2023

Combined esophageal and duodenal atresia: A review of the literature from 1950 to 2020.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
2023

[Acquired diaphragmatic hernia in a child with a related liver transplant].

Khirurgiia
2023

Double Whammy: Duodenal Stenosis and Gastrointestinal Malrotation.

Cureus
2023

BISHOP-KOOP OSTOMY REVISITED: A "TEST-DRIVE" INTESTINAL DIVERSION FOR CHILDREN WITH SUSPECTED BOWEL DYSMOTILITY.

Arquivos brasileiros de cirurgia digestiva : ABCD = Brazilian archives of digestive surgery
2023

Perioperative and Long-Term Outcome in Patients Treated for Jejunoileal Atresia.

Journal of pediatric gastroenterology and nutrition
2023

Clinical Variables as Indicative Factors for Endoscopy in Adolescents with Esophageal Atresia.

Journal of pediatric surgery
2022

Antibiotic use in endodontic treatment during pregnancy: A narrative review.

European journal of translational myology
2022

Diagnostic value of the microcolon using ultrasonography in small bowel atresia.

BMC pediatrics
2023

Biliatresone: progress in biliary atresia study.

World journal of pediatrics : WJP
2022

Meconium Peritonitis, Intestinal Atresia Combined With Biliary Atresia: A Case Report.

Frontiers in pediatrics
2022

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

Genes
2022

Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome.

American journal of medical genetics. Part C, Seminars in medical genetics
2022

Duodenal atresia with apple peel associated with congenital diaphragmatic hernia: an exceptional case and a literature review.

Cirugia pediatrica : organo oficial de la Sociedad Espanola de Cirugia Pediatrica
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

A Novel Homozygous TTC7A Missense Mutation Results in Familial Multiple Intestinal Atresia and Combined Immunodeficiency.

Frontiers in immunology
2022

Endoscopic duodenal stent placement versus gastrojejunostomy for unresectable pancreatic cancer patients with duodenal stenosis before introduction of initial chemotherapy (GASPACHO study): a multicenter retrospective study.

Japanese journal of clinical oncology
2021

Ultrasound Markers for Complex Gastroschisis: A Systematic Review and Meta-Analysis.

Journal of clinical medicine
2021

Ileal atresia and severe cerebral injury after fetoscopic laser photocoagulation treatment for twin-to-twin transfusion syndrome.

The Turkish journal of pediatrics
2021

Association of Gut Microbiota and Metabolites With Disease Progression in Children With Biliary Atresia.

Frontiers in immunology
2021

New sonographic feature (C-sign) to improve the prenatal accuracy of jejunal atresia.

The journal of obstetrics and gynaecology research
2021

Complex gastroschisis: a new indication for fetal surgery?

Ultrasound in obstetrics &amp; gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
2022

Treatment of jejunoileal atresia by primary anastomosis or enterostomy: Double the operations, double the risk of complications.

Journal of pediatric surgery
2021

Biallelic PI4KA variants cause neurological, intestinal and immunological disease.

Brain : a journal of neurology
2021

Mortality from gastrointestinal congenital anomalies at 264 hospitals in 74 low-income, middle-income, and high-income countries: a multicentre, international, prospective cohort study.

Lancet (London, England)
2021

Anorectal malformation, associated with colon atresia and intestinal malrotation, a case report.

International journal of surgery case reports
2021

Rare case report of anorectal malformation and intestinal atresia.

International journal of surgery case reports
2021

How can we improve perinatal care in isolated multiple intestinal atresia? A retrospective study with a 30-year literature review.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
2021

Refractory pruritus responds to dupilumab in a patient with TTC7A mutation.

JAAD case reports
2021

A case of neonate effectively treated with everolimus for giant hepatic hemangioma complicated with congenital duodenal atresia and Kasabach-Merritt syndrome.

Journal of neonatal-perinatal medicine
2020

Derivation of a complication burden score based on disability-adjusted life years to assess patient burden following surgery: a pilot study.

Canadian journal of surgery. Journal canadien de chirurgie
2021

It Is Complex: Predicting Gastroschisis Outcomes Using Prenatal Imaging.

The Journal of surgical research
2020

Congenital intestinal atresia associated with a mesenteric cystic lymphangioma in a low birth weight neonate: A case report.

International journal of surgery case reports
2020

Tethered Cord Syndrome in the United States Cluster Analysis of Presenting Anomalies and Associated.

Bulletin of the Hospital for Joint Disease (2013)
2021

The Intestinal Flora at Kasai Procedure in Children with Biliary Atresia Appears Not to Affect Postoperative Cholangitis.

European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie
2020

Investigation into multi-centre diagnosis and treatment strategies of biliary atresia in mainland China.

Pediatric surgery international
2020

Individual and combined toxicogenetic effects of microplastics and heavy metals (Cd, Pb, and Zn) perturb gut microbiota homeostasis and gonadal development in marine medaka (Oryzias melastigma).

Journal of hazardous materials
2020

Single port laparoscopy combined with vaginal cervicovaginal reconstruction in a patient with congenital atresia of the cervix.

Fertility and sterility
2020

A rare combination of MODY5 and duodenal atresia in a patient: a case report.

BMC medical genetics
2020

The role of sonography in differentiating congenital intrinsic duodenal anomalies from midgut malrotation: emphasizing the new signs of duodenal and gastric wall thickening and hyperechogenicity.

Pediatric radiology
2019

An Atypical Variant of Apple Peel Atresia: Reporting a Rare Case.

Cureus
2019

Chronic Intestinal Pseudo-Obstruction and Lymphoproliferative Syndrome as a Novel Phenotype Associated With Tetratricopeptide Repeat Domain 7A Deficiency.

Frontiers in immunology
2019

Combined Immunodeficiency With Inflammatory Bowel Disease in a Patient With TTC7A Deficiency.

ACG case reports journal
2019

Duodenal atresia with familial apple peel syndrome: case study with review of literature.

BMJ case reports
2019

Novel Exonic Deletions in TTC7A in a Newborn with Multiple Intestinal Atresia and Combined Immunodeficiency.

Journal of clinical immunology
2019

Feeding Outcomes in Neonates With Trisomy 21 and Duodenal Atresia.

The Journal of surgical research
2019

Oesophageal atresia with tracheo-oesophageal fistula, ileal atresia and Hirschsprung's disease: outcome of a rare phenotype.

BMJ case reports
2019

Bronchiolitis obliterans organizing pneumonia in Crohn's disease.

Gastroenterologia y hepatologia
2019

Isolated Ascites in a Monochorionic Twin after Fetoscopic Laser Ablation Is Not Necessarily Secondary to Recurrence or Anaemia: Bowel Complications in Twin-to-Twin Transfusion Syndrome after Fetoscopic Laser Ablation.

Fetal diagnosis and therapy
2019

TTC7A: Steward of Intestinal Health.

Cellular and molecular gastroenterology and hepatology
2019

FOXA2 gene mutation in a patient with congenital complex pituitary hormone deficiency.

European journal of medical genetics
2018

TTC7A mutation must be considered in patients with repeated intestinal atresia associated with early inflammatory bowel disease: Two new case reports and a literature review.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
2018

Congenital intestinal atresias with multiple episodes of sepsis: A case report and review of literature.

Medicine
2018

High Rates of Positive Severe Combined Immunodeficiency Screening Among Newborns with Severe Intestinal Failure.

JPEN. Journal of parenteral and enteral nutrition
2018

Missense mutation of TTC7A mimicking tricho-hepato-enteric (SD/THE) syndrome in a patient with very-early onset inflammatory bowel disease.

European journal of medical genetics
2017

Population-based birth defects data in the United States, 2010-2014: A focus on gastrointestinal defects.

Birth defects research
2018

Complicated Gastroschisis Is Associated with Greater Intestinal Morbidity than Gastroschisis or Intestinal Atresia Alone.

European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie
2017

Novel Mutations of the Tetratricopeptide Repeat Domain 7A Gene and Phenotype/Genotype Comparison.

Frontiers in immunology
2017

Chronic intestinal pseudo-obstruction in a child with Treacher Collins syndrome.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
2017

Disparity in access and outcomes for emergency neonatal surgery: intestinal atresia in Kampala, Uganda.

Pediatric surgery international
2017

[Application of bowel plication combined with early enteral nutrition in the enhanced recovery after surgery for neonates with jejunal atresia].

Zhonghua wei chang wai ke za zhi = Chinese journal of gastrointestinal surgery
2017

Twin pregnancy complicated by esophageal atresia, duodenal atresia, gastric perforation, and hypoplastic left heart structures in one twin: a case report and review of the literature.

Journal of medical case reports
2017

Prenatal magnetic resonance and ultrasonographic findings in small-bowel obstruction: imaging clues and postnatal outcomes.

Pediatric radiology
2017

Laparoscopic duodenoduodenostomy with parallel anastomosis for duodenal atresia.

Surgical endoscopy
2016

Two novel RFX6 variants in siblings with Mitchell-Riley syndrome with later diabetes onset and heterotopic gastric mucosa.

European journal of medical genetics
2016

Routine contrast enema is not required for all infants prior to ostomy reversal: A 10-year single-center experience.

Journal of pediatric surgery
2016

Serum Autotaxin Activity Correlates With Pruritus in Pediatric Cholestatic Disorders.

Journal of pediatric gastroenterology and nutrition
2015

Application of Laser Capture Microdissection and 16S rRNA Gene Polymerase Chain Reaction in the Analysis of Bacteria Colonizing the Intestinal Tissue of Neonates With Necrotizing Enterocolitis.

The Pediatric infectious disease journal
2016

Endoscopic Surveillance After Repair of Oesophageal Atresia: Longitudinal Study in 209 Patients.

Journal of pediatric gastroenterology and nutrition
2015

The Combination of Gastroschisis, Jejunal Atresia, and Colonic Atresia in a Newborn.

Case reports in pediatrics
2015

Belgian multicenter experience with intestinal transplantation.

Transplant international : official journal of the European Society for Organ Transplantation
2015

Atresia of the Colon Associated with Hirschsprung's Disease.

Archives of Iranian medicine
2015

Biventricular repair in heterotaxy patients.

World journal for pediatric &amp; congenital heart surgery
2015

Defective upper gastrointestinal function after repair of combined esophageal and duodenal atresia.

Journal of pediatric surgery
2015

Hypomorphic mutation in TTC7A causes combined immunodeficiency with mild structural intestinal defects.

Blood
2015

Diagnostic Accuracy of Prenatal Ultrasound in Identifying Jejunal and Ileal Atresia.

Fetal diagnosis and therapy

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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.

  1. Establishment and validation of a nomogram to predict thirty-day unplanned reoperations of primary anastomosis in neonates with intestinal atresias.
    Frontiers in pediatrics· 2025· PMID 41234412mais citado
  2. Exploring the current usage of and attitudes towards transanastomotic tube (TAT) feeding in infants born with duodenal atresia: a survey of practice in the UK.
    BMJ paediatrics open· 2025· PMID 40102024mais citado
  3. Liver Transplantation in Childhood: A 2-Year Single Center Experience.
    Transplantation proceedings· 2025· PMID 40846611mais citado
  4. Genotype-Phenotype Correlation in TTC7A -Associated Gastrointestinal Defects and Immunodeficiency Syndrome 1.
    American journal of medical genetics. Part A· 2025· PMID 40685546mais citado
  5. Factors influencing early surgical outcomes of intestinal atresia in a resource-limited tertiary center.
    Pediatric surgery international· 2025· PMID 40616700mais citado
  6. Characterization of the intestinal microorganism in patients with congenital intestinal atresia: the preliminary exploration for establishment and influence of initial intestinal flora in newborns.
    BMC Microbiol· 2025· PMID 40348978recente
  7. Hereditary Multiple Intestinal Atresia With a Novel TTC7A Pathogenic Variant: Gastrointestinal Manifestations in Two Cases.
    Pediatr Dev Pathol· 2025· PMID 39444084recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:436252(Orphanet)
  2. MONDO:0030831(MONDO)
  3. Variantes catalogadas(ClinVar)
  4. Busca completa no PubMed(PubMed)
  5. Q18554801(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

Espectro clínico de imunodeficiência combinada-enteropatia
Compêndio · Raras BR

Espectro clínico de imunodeficiência combinada-enteropatia

ORPHA:436252 · MONDO:0030831
CID-10
Q82.8 · Outras malformações congênitas especificadas da pele
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Neonatal
MedGen
UMLS
C0220744
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