X-linked mendelian susceptibility to mycobacterial diseases

Orpha code: 319605OMIM code: 300645

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 (<i>IKBKG</i>) or the cytochrome b-245, beta polypeptide (<i>CYBB</i>) genes. They are characterized by mycobacterial infections, occuring in males.

Disease data
Classification

Disease

Synonyms
X-linked MSMD
MSMD sprzężona z chromosomem X
ORPHA code
319605
OMIM code
300645
ICD10 code
D84.8
ICD11 code
-

No additional description.

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