TRAF3 haploinsufficiency

MONDO:0100513

Any Mendelian disease in which the cause of the disease is a mutation in the TRAF3 gene. TRAF3 haploinsufficiency caused by heterozygous loss of function (null) variants presents as an immune dysregulation syndrome of recurrent bacterial infections, autoimmunity, systemic inflammation, B cell lymphoproliferation, and hypergammaglobulinemia.

0 clinical trials for this condition and its sub-types, 0 tagged with TRAF3 haploinsufficiency itself.

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↑ Hereditary disease (18187)

Including sub-types (0) Tagged with TRAF3 haploinsufficiency (0)

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