Compound heterozygous mutations in TTC7A cause familial multiple intestinal atresias and severe combined immunodeficiency.
Clin Genet. 2015.
PMID: 25534311
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Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias.
J Allergy Clin Immunol. 2013.
PMID: 23830146
Free PMC article.
The complex surgical management of the first case of severe combined immunodeficiency and multiple intestinal atresias surviving after the fourth year of life.
Pediatr Gastroenterol Hepatol Nutr. 2014.
PMID: 25587526
Free PMC article.
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Page 1
Neonatal erythroderma and immunodysplasia: Overlap of cartilage-hair hypoplasia and Omenn syndrome.
Eur J Med Genet. 2026 Mar;80:105069. doi: 10.1016/j.ejmg.2026.105069. Epub 2026 Jan 28.
Eur J Med Genet. 2026.
PMID: 41616907
Free article.
Cartilage hair hypoplasia (CHH) syndrome (OMIM #250250) is a rare autosomal recessive metaphyseal dysplasia, characterized by disproportionate short stature, hypotrichosis and variable extra-skeletal manifestations, including immunodeficiency, anemia, intestinal dis …
Cartilage hair hypoplasia (CHH) syndrome (OMIM #250250) is a rare autosomal recessive metaphyseal dysplasia, characterized by disproportiona …
CVID Enteropathy Is Difficult To Treat and Shows a Heterogeneous Histopathology.
J Clin Immunol. 2025 Sep 30;45(1):129. doi: 10.1007/s10875-025-01920-z.
J Clin Immunol. 2025.
PMID: 41026260
Free PMC article.
Using electronic patient health care records, we retrospectively collected clinical information in the national Primary immunodeficiency disorder database until 01-2023. RESULTS: We included 39 patients with CVID-E. ...Of these 26 were the result of tumor necrosis factor i …
Using electronic patient health care records, we retrospectively collected clinical information in the national Primary immunodeficiency …
Genotype-Phenotype Correlation in TTC7A -Associated Gastrointestinal Defects and Immunodeficiency Syndrome 1.
Am J Med Genet A. 2025 Dec;197(12):e64189. doi: 10.1002/ajmg.a.64189. Epub 2025 Jul 20.
Am J Med Genet A. 2025.
PMID: 40685546
The patient presented with MIA, requiring permanent parenteral nutrition, combined immunodeficiency, anemia, and congenital heart defects, and died at 11 months of age. ...Our findings confirm a strong association between biallelic TTC7A LOF variants and MIA with (s …
The patient presented with MIA, requiring permanent parenteral nutrition, combined immunodeficiency, anemia, and congenital he …
JAK3-deficient mini-pigs exhibit impaired lymphoid organogenesis, intestinal structure, and leukocyte/cytokine production.
J Adv Res. 2026 Feb;80:643-654. doi: 10.1016/j.jare.2025.04.036. Epub 2025 Apr 23.
J Adv Res. 2026.
PMID: 40280544
Free PMC article.
INTRODUCTION: Severe combined immunodeficiency (SCID) mini-pigs are a highly versatile model for human disease research and regenerative medicine. ...Notably, JAK3 KO mini-pigs had significantly reduced numbers of monocytes in peripheral blood, macrophages in tissue …
INTRODUCTION: Severe combined immunodeficiency (SCID) mini-pigs are a highly versatile model for human disease research and re …
Challenge in a Malrotation Case: Presentation Mimicking Severe Combined Immunodeficiency.
J Paediatr Child Health. 2025 May;61(5):810-813. doi: 10.1111/jpc.70030. Epub 2025 Mar 13.
J Paediatr Child Health. 2025.
PMID: 40079322
Diagnosis of malrotation can be particularly challenging in cases where symptoms resemble those of other illnesses, such as severe combined immunodeficiency (SCID). CASE REPORT: In this case study, we describe a 2-month-old girl with midgut volvulus secondary to mal …
Diagnosis of malrotation can be particularly challenging in cases where symptoms resemble those of other illnesses, such as severe combin …
Identifying novel heterozygous PI4KA variants in fetal abnormalities.
BMC Med Genomics. 2025 Jan 30;18(1):23. doi: 10.1186/s12920-025-02093-9.
BMC Med Genomics. 2025.
PMID: 39885450
Free PMC article.
BACKGROUND: The clinical manifestations of PI4KA-related disorders are characterized by considerable variability, predominantly featuring neurological impairments, gastrointestinal symptoms, and a combined immunodeficiency. The aim of this study was to delineate the …
BACKGROUND: The clinical manifestations of PI4KA-related disorders are characterized by considerable variability, predominantly featuring ne …
Hereditary Multiple Intestinal Atresia With a Novel TTC7A Pathogenic Variant: Gastrointestinal Manifestations in Two Cases.
Pediatr Dev Pathol. 2025 Jan-Feb;28(1):74-77. doi: 10.1177/10935266241284949. Epub 2024 Oct 23.
Pediatr Dev Pathol. 2025.
PMID: 39444084
Hereditary multiple intestinal atresia (HMIA) with TTC7A mutation is caused by homozygous or compound heterozygous TTC7A gene mutation. It is characterized by multiple small and large intestinal atresias and/or stenoses. TTC7A mutation is described in …
Hereditary multiple intestinal atresia (HMIA) with TTC7A mutation is caused by homozygous or compound heterozygous TTC7A gene …
Rapid identification of primary atopic disorders (PAD) by a clinical landmark-guided, upfront use of genomic sequencing.
Allergol Select. 2024 Oct 2;8:304-323. doi: 10.5414/ALX02520E. eCollection 2024.
Allergol Select. 2024.
PMID: 39381601
Free PMC article.
Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia.
J Clin Immunol. 2024 Sep 23;45(1):15. doi: 10.1007/s10875-024-01793-8.
J Clin Immunol. 2024.
PMID: 39312004
PURPOSE: PI4KA-related disorder is a highly clinically variable condition characterized by neurological (limb spasticity, developmental delay, intellectual disability, seizures, ataxia, nystagmus) and gastrointestinal (inflammatory bowel disease and multiple intestinal …
PURPOSE: PI4KA-related disorder is a highly clinically variable condition characterized by neurological (limb spasticity, developmental dela …
Meconium peritonitis in multiple intestinal atresia with combined immune deficiency caused by a TTC7A mutation: A case report.
SAGE Open Med Case Rep. 2024 Jan 29;12:2050313X241227129. doi: 10.1177/2050313X241227129. eCollection 2024.
SAGE Open Med Case Rep. 2024.
PMID: 38292879
Free PMC article.
Multiple intestinal atresia with combined immune deficiency is a severe autosomal recessive disorder caused by the tetratricopeptide repeat domain 7A (TTC7A) gene deficiency, which is characterized by extensive intestinal defects with imm …
Multiple intestinal atresia with combined immune deficiency is a severe autosomal recessive disorder caused by t …
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