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X-linked mendelian susceptibility to mycobacterial diseases

Disease definition

X-linked (XR) Mendelian susceptibility to mycobacterial diseases (MSMD; see this term) describes a rare group of immunodeficiencies due to specific mutations in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (IKBKG) or the cytochrome b-245, beta polypeptide (CYBB) genes. They are characterized by mycobacterial infections, occuring in males.

ORPHA:319605

  • Synonym(s):
    • X-linked MSMD
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Infancy, Childhood, Adolescent
  • ICD-10: D84.8
  • OMIM: 300636  300645
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

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