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Immunodeficiency 31B(IMD31B)

MedGen UID:
462438
•Concept ID:
C3151088
•
Disease or Syndrome
Synonyms: IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE; Mycobacterial and viral infections, susceptibility to, autosomal recessive; STAT1 DEFICIENCY, AUTOSOMAL RECESSIVE
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Gene (location): STAT1 (2q32.2)
 
Monarch Initiative: MONDO:0013427
OMIM®: 613796
Orphanet: ORPHA391311

Definition

Immunodeficiency-31B (IMD31B) results from autosomal recessive (AR) STAT1 deficiency. STAT1 is crucial for cellular responses to IFNA (147660)/IFNB (147640) (type I interferon) and IFNG (147570) (type III interferon). AR STAT1 deficiency affects both the IFNA/IFNB and the IFNG pathways, resulting in susceptibility to mycobacteria, Salmonella, and viruses, with a severe disease course and often fatal outcome (review by Al-Muhsen and Casanova, 2008). [from OMIM]

Clinical features

From HPO
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.
See: Feature record | Search on this feature
Recurrent viral infections
MedGen UID:
332357
•Concept ID:
C1837066
•
Finding
Increased susceptibility to viral infections, as manifested by recurrent episodes of viral infection.
See: Feature record | Search on this feature
Recurrent mycobacterial infections
MedGen UID:
869021
•Concept ID:
C4023438
•
Finding
Increased susceptibility to mycobacterial infections, as manifested by recurrent episodes of mycobacterial infection.
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVImmunodeficiency 31B
Follow this link to review classifications for Immunodeficiency 31B in Orphanet.

Professional guidelines

PubMed

HIV-1 pol phylogenetic diversity and antiretroviral resistance mutations in treatment naïve patients from Central West Brazil.
Cardoso LP, Queiroz BB, Stefani MM
J Clin Virol 2009 Oct;46(2):134-9. Epub 2009 Aug 13 doi: 10.1016/j.jcv.2009.07.009. PMID: 19682948

Recent clinical studies

Diagnosis

Diagnosing inborn error of immunity following the presentation of a complicated acquired infection after MMRV vaccine administration.
AlZoebie L, Al Sereidi H, Al Maeeni S, Ramsi M
BMJ Case Rep 2020 Jan 21;13(1) doi: 10.1136/bcr-2019-233063. PMID: 31969413Free PMC Article
HLA-A and -B alleles and haplotypes in 240 index patients with common variable immunodeficiency and selective IgG subclass deficiency in central Alabama.
Barton JC, Bertoli LF, Acton RT
BMC Med Genet 2003 Jun 12;4:3. doi: 10.1186/1471-2350-4-3. PMID: 12803653Free PMC Article

Therapy

Diagnosing inborn error of immunity following the presentation of a complicated acquired infection after MMRV vaccine administration.
AlZoebie L, Al Sereidi H, Al Maeeni S, Ramsi M
BMJ Case Rep 2020 Jan 21;13(1) doi: 10.1136/bcr-2019-233063. PMID: 31969413Free PMC Article
Role of intralesional vinblastine administration in treatment of intraoral Kaposi's sarcoma in AIDS.
Flaitz CM, Nichols CM, Hicks MJ
Eur J Cancer B Oral Oncol 1995 Jul;31B(4):280-5. doi: 10.1016/0964-1955(95)00009-7. PMID: 7492927

Clinical prediction guides

HIV-1 pol phylogenetic diversity and antiretroviral resistance mutations in treatment naïve patients from Central West Brazil.
Cardoso LP, Queiroz BB, Stefani MM
J Clin Virol 2009 Oct;46(2):134-9. Epub 2009 Aug 13 doi: 10.1016/j.jcv.2009.07.009. PMID: 19682948

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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