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Items: 4

1.

Immunodeficiency 31a

IMD31A results from autosomal dominant (AD) STAT1 deficiency. STAT1 is crucial for cellular responses to IFNA (147660)/IFNB (147640) (type I interferon) and IFNG (147570) (type III interferon). AD STAT1 deficiency selectively affects the IFNG pathway, but not the IFNA/IFNB pathway. Unlike autosomal recessive (AR) STAT1 deficiency (IMD31B; 613796), which affects both the IFNA/IFNB and IFNG pathways, AD STAT1 deficiency confers a predisposition to mycobacterial infections only, with no increased susceptibility to viral infections. Pathogens reported in IMD31A patients include bacillus Calmette-Guerin (BCG) and Mycobacterium avium complex, as well as Mycobacterium tuberculosis. IMD31A has low penetrance and a mild clinical phenotype with good prognosis for recovery (review by Al-Muhsen and Casanova, 2008). [from GTR]

MedGen UID:
862387
Concept ID:
C4013950
Disease or Syndrome
2.

IMMUNODEFICIENCY 27A

MedGen UID:
860386
Concept ID:
C4011949
Disease or Syndrome
3.

Immunodeficiency 31C

Immunodeficiency-31C is an autosomal dominant disorder of immunologic dysregulation with highly variable manifestations. Most patients present in infancy or early childhood with chronic mucocutaneous candidiasis (CMC). Other highly variable features include recurrent bacterial, viral, fungal, and mycoplasmal infections, disseminated dimorphic fungal infections, enteropathy with villous atrophy, and autoimmune disorders, such as hypothyroidism or diabetes mellitus. A subset of patients show apparently nonimmunologic features, including osteopenia, delayed puberty, and intracranial aneurysms. Laboratory studies show increased activation of gamma-interferon (IFNG; 147570)-mediated inflammation (summary by Uzel et al., 2013 and Sampaio et al., 2013). [from GTR]

MedGen UID:
481620
Concept ID:
C3279990
Disease or Syndrome
4.

Mycobacterial and viral infections, susceptibility to, autosomal recessive

MedGen UID:
462438
Concept ID:
C3151088
Disease or Syndrome
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