Name: Immunodeficiency 34 | Acronym: IMD34
Alt. names:

Gene: CYBB | MOI: X-linked recessive | Mechanism of action: Loss of Function

No. of cases in DB: 0 | First reported in: 2011

Last updated on: 2023-02-28 16:41:18 by Andrés Caballero-Oteyza

OMIM: 306445

Orphanet: -

MONDO: -

DOID: -

ClinGen:

It 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).[OMIM]

BCG vacine should be avoided, and recognition may allow prompt diagnosis and treatment of infectious manifestations; In Chronic granulomatous disease, X-linked, surveillance for infections and infectious complications is indicated, and preventive measures (eg, antibacterial/antifungal prophylaxis, interferon gamma) may be beneficial; To treat fungal infections, specific antifungal drugs may be beneficial, and longer treatment courses (as well as specific considerations including coadministration with corticosteroids) may be indicated in individuals with CGD; In some instances, HSCT may be beneficial; Certain agents should be avoided, including material that would allow fungal spore inhalation