Name: Immunodeficiency 31C | Acronym: IMD31C
Alt. names: IMD31C | STAT1-GOF | Immunodeficiency 31C, candidiasis, autosomal dominant | familial candidiasis 7

Gene: STAT1 | MOI: Autosomal dominant | Mechanism of action: Gain of Function

No. of cases in DB: 15 | First reported in: 2011

Last updated on: 2023-02-28 16:41:18 by Andrés Caballero-Oteyza

OMIM: 614162

Orphanet: -

MONDO: -

DOID: -

ClinGen:

IMD31C is disorder of immunologic dysregulation with highly variable manifestations resulting from autosomal dominant gain-of-function mutations in STAT1. 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).[OMIM]

Individuals with heterozygous forms may be susceptible to candidiasis, and may be susceptible to neoplasms including carcinoma, as well as autoimmune thyroid disease, and awareness may allow prompt diagnosis and treatment. HSCT has beeen described in some STAT1-related conditions.