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X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency(AMCBX2; IMD34)

MedGen UID:
370369
•Concept ID:
C1970859
•
Disease or Syndrome
Synonyms: Atypical mycobacteriosis, familial, X-linked 2; IMMUNODEFICIENCY 34; IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
•Concept ID:
C1845977
•
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
See: This record
X-linked recessive inheritance (Orphanet)
 
Gene (location): CYBB (Xp21.1-11.4)
 
Monarch Initiative: MONDO:0010389
OMIM®: 300645
Orphanet: ORPHA319623

Definition

IMD34 results in predisposition to infections by poorly virulent mycobacteria, such as bacillus Calmette-Guerin (BCG) vaccines and nontuberculous environmental bacteria. Affected individuals are also susceptible to the more virulent species Mycobacterium tuberculosis (Bustamante et al., 2007). [from OMIM]

Clinical features

From HPO
Pulmonary tuberculosis
MedGen UID:
11947
•Concept ID:
C0041327
•
Disease or Syndrome
A lung infection by Mycobacterium tuberculosis a slightly curved non-motile, aerobic, non-capsulated and non-spore forming strains of mycobacteria.
See: Feature record | Search on this feature
BCGosis
MedGen UID:
823215
•Concept ID:
C3830467
•
Disease or Syndrome
Distant, or disseminated infection with Bacillus Calmette-Guerin (BCG) following vaccination associated with failure to contain thebacillus Calmette-Guerin (BCG) following vaccination leading to spread of BCG to many sites in the body. The tuberculosis vaccine BCG contains live attenuated Mycobacterium bovis.
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  
  • CROGVX-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
Follow this link to review classifications for X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency in Orphanet.

Professional guidelines

PubMed

Immune defects in active mycobacterial diseases in patients with primary immunodeficiency diseases (PIDs).
Lee WI, Huang JL, Yeh KW, Jaing TH, Lin TY, Huang YC, Chiu CH
J Formos Med Assoc 2011 Dec;110(12):750-8. Epub 2011 Dec 23 doi: 10.1016/j.jfma.2011.11.004. PMID: 22248828

Recent clinical studies

Etiology

Immune defects in active mycobacterial diseases in patients with primary immunodeficiency diseases (PIDs).
Lee WI, Huang JL, Yeh KW, Jaing TH, Lin TY, Huang YC, Chiu CH
J Formos Med Assoc 2011 Dec;110(12):750-8. Epub 2011 Dec 23 doi: 10.1016/j.jfma.2011.11.004. PMID: 22248828

Diagnosis

Disseminated Bacillus Calmette-Guérin Osteomyelitis in Twin Sisters Related to STAT1 Gene Deficiency.
Boudjemaa S, Dainese L, Héritier S, Masserot C, Hachemane S, Casanova JL, Coulomb A, Bustamante J
Pediatr Dev Pathol 2017 Jun;20(3):255-261. Epub 2017 Jan 27 doi: 10.1177/1093526616686255. PMID: 28521627

Supplemental Content

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    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • 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
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    • PubMed (OMIM)
      Related literature resources in PubMed

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