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X-linked Mendelian susceptibility to mycobacterial diseases

MONDO:0017905

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, occurring in males.

Also known as: X-linked MSMD, mendelian susceptibility to mycobacterial diseases, X-linked

5 clinical trials for this condition and its sub-types.

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Sub-types

X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency (0)

Broader categories

Inherited disease susceptibility (69) Disease susceptibility (3) Inherited susceptibility to mycobacterial diseases (1)

Trials to join now! 4 Not yet finished but already full! 1

Quick genetic test for unborn babies hits a snag: study withdrawn

Knowledge-focused Terminated

This study aimed to see if a rapid whole genome sequencing test on amniotic fluid could give faster genetic diagnoses for fetuses with suspected genetic diseases. Researchers planned to compare results from amniotic fluid and blood samples from up to 90 families. However, the stu…

Sponsor: Mayo Clinic • Aim: Knowledge-focused

Last updated Jun 26, 2026 14:00 UTC