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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. Autosomal dominant inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	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.

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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.

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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.

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Recurrent viral infections

MedGen UID:: 332357
•Concept ID:: C1837066
•: Finding

Increased susceptibility to viral infections, as manifested by recurrent episodes of viral infection.

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BCGitis

MedGen UID:: 1684722
•Concept ID:: C5139070
•: Disease or Syndrome

Local or regional infection with Bacillus Calmette-Guerin (BCG) following vaccination.

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Abnormality of the immune system

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVMendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency

Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency
- Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency

Recent clinical studies

Etiology

Clinical and host genetic characteristics of Mendelian susceptibility to mycobacterial diseases in Japan.

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

See all (1)

Diagnosis

Heterozygosity for the Y701C STAT1 mutation in a multiplex kindred with multifocal osteomyelitis.

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: 23585529 Free PMC Article

Clinical and host genetic characteristics of Mendelian susceptibility to mycobacterial diseases in Japan.

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

Mendelian susceptibility to mycobacterial infection in man.

Casanova JL
Swiss Med Wkly 2001 Aug 11;131(31-32):445-54. doi: 10.4414/smw.2001.09763. PMID: 11641967

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Therapy

Successful treatment of invasive mycobacterium infection with interferon beta in a patient with Interferon-Gamma Receptor 1 deficiency.

Alroqi F, Almutairi A, Alhammadi M, Alhamdi S
J Infect Public Health 2024 Aug;17(8):102468. Epub 2024 May 31 doi: 10.1016/j.jiph.2024.102468. PMID: 38991411

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Clinical prediction guides

Patient iPSC-Derived Macrophages to Study Inborn Errors of the IFN-γ Responsive Pathway.

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: 32093117 Free PMC Article

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

Definition

Clinical features

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Therapy

Clinical prediction guides

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Table of contents

Genetic Testing Registry

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Molecular resources

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Reviews

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