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Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency(IMD31A)

MedGen UID:
862387
Concept ID:
C4013950
Disease or Syndrome
Synonyms: Immunodeficiency 31a; IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT; STAT1 DEFICIENCY, AUTOSOMAL DOMINANT
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): STAT1 (2q32.2)
 
Monarch Initiative: MONDO:0013956
OMIM®: 614892
Orphanet: ORPHA319595

Definition

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, and confers a predisposition to mycobacterial 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). Two patients with heterozygous STAT1 mutations have been reported with increased susceptibility to adult-onset herpes simplex encephalitis (HSE) without a history of other significant infections (Mork et al., 2015). [from OMIM]

Clinical features

From HPO
Immunodeficiency
MedGen UID:
7034
Concept ID:
C0021051
Disease or Syndrome
Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.
Herpes simplex encephalitis
MedGen UID:
75794
Concept ID:
C0276226
Disease or Syndrome
Infection of the brain parenchyma with herpes simplex virus, resulting in inflammation of the brain parenchyma with neurologic dysfunction.
Recurrent mycobacterium avium complex infections
MedGen UID:
853464
Concept ID:
C1737260
Finding
Increased susceptibility to mycobacterial avium complex infections, as manifested by recurrent episodes of mycobacterial infection.
Recurrent viral infections
MedGen UID:
332357
Concept ID:
C1837066
Finding
Increased susceptibility to viral infections, as manifested by recurrent episodes of viral infection.
BCGitis
MedGen UID:
1684722
Concept ID:
C5139070
Disease or Syndrome
Local or regional infection with Bacillus Calmette-Guerin (BCG) following vaccination.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency

Recent clinical studies

Etiology

Hoshina T, Takada H, Sasaki-Mihara Y, Kusuhara K, Ohshima K, Okada S, Kobayashi M, Ohara O, Hara T
J Clin Immunol 2011 Jun;31(3):309-14. Epub 2011 Jan 8 doi: 10.1007/s10875-010-9498-y. PMID: 21221749

Diagnosis

Hirata O, Okada S, Tsumura M, Kagawa R, Miki M, Kawaguchi H, Nakamura K, Boisson-Dupuis S, Casanova JL, Takihara Y, Kobayashi M
Haematologica 2013 Oct;98(10):1641-9. Epub 2013 Apr 12 doi: 10.3324/haematol.2013.083741. PMID: 23585529Free PMC Article
Hoshina T, Takada H, Sasaki-Mihara Y, Kusuhara K, Ohshima K, Okada S, Kobayashi M, Ohara O, Hara T
J Clin Immunol 2011 Jun;31(3):309-14. Epub 2011 Jan 8 doi: 10.1007/s10875-010-9498-y. PMID: 21221749
Casanova JL
Swiss Med Wkly 2001 Aug 11;131(31-32):445-54. doi: 10.4414/smw.2001.09763. PMID: 11641967

Clinical prediction guides

Haake K, Neehus AL, Buchegger T, Kühnel MP, Blank P, Philipp F, Oleaga-Quintas C, Schulz A, Grimley M, Goethe R, Jonigk D, Kalinke U, Boisson-Dupuis S, Casanova JL, Bustamante J, Lachmann N
Cells 2020 Feb 19;9(2) doi: 10.3390/cells9020483. PMID: 32093117Free PMC Article

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