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immunodeficiency 33

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Any immunodeficiency disease in which the cause of the disease is a mutation in the IKBKG gene.
Uniprot Description A X-linked recessive form of Mendelian susceptibility to mycobacterial disease, a rare condition characterized by predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine, environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections, with the exception of Salmonella which infects less than 50% of these individuals.
Mondo Term and Equivalent IDs
MONDO:0010386:  immunodeficiency 33
GARD:0012915: 
MESH:C567070: 
Orphanet:319612: 
UMLS:C1970879: