X-linked familial atypical mycobacteriosis type 1

X-linked familial atypical mycobacteriosis type 1

The X-linked recessive form of mendelian susceptibility to mycobacterial disease (OMIM:300636), a syndrome characterised by predisposition to clinical disease caused by weakly virulent mycobacterial species—e.g., bacillus Calmette-Guerin (bCG) vaccines; non-tuberculous environmental mycobacteria, including slow-growing (e.g., M avium, M intracellulare, M kansasii, M malmoense, M simiae, M szulgai, M xenopi), and rapid-growing (e.g., M abscessus, M chelonae, M fortuitum) forms, which are susceptible to the more virulent strains of M tuberculosis.

Molecular pathology
AMCBX1 (X-linked familial atypical mycobacteriosis type 1) is caused by a mutation of IKBKG (NEMO) on chromosome Xq28.
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