Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency

MONDO:0014493

A somatic mutation in the CTLA4 gene resulting in only a single functional gene. Haploinsufficiency for CTLA4 is associated with autoimmune lymphoproliferative syndrome, type V.

Also known as: ALPS due to CTLA4 haploinsufficiency, ALPS type 5, ALPS type V, CHAI, CTLA-4 haploinsufficiency with autoimmune infiltration disease, CTLA4 haploinsufficiency, autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, autoimmune lymphoproliferative syndrome type 5

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

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Broader categories

Disease (618) Autoimmune disease (283) Hereditary disease (172) Immune system disorder (140) Inborn error of immunity (113) Lymphoproliferative syndrome (68) Hypersensitivity reaction disease (29) Syndromic disease (24) Human disease (14) Autoimmune lymphoproliferative syndrome (11)

Trials to join now! 38 Not yet recruiting 11 Not yet finished but already full! 13 Completed 21 Terminated 1

Biopsy tolerance study ends early – what we know

Knowledge-focused Terminated

This study aimed to understand how well patients tolerate biopsies for autoimmune diseases and whether they feel properly informed. It planned to enroll 505 people but was terminated early. The results may help improve patient experience with these common procedures.

Sponsor: University Hospital, Brest • Aim: Knowledge-focused

Last updated Jun 28, 2026 00:00 UTC

Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency

Broader categories

Biopsy tolerance study ends early – what we know