Hyper-IgM syndrome type 1
MONDO:0010626The X-linked variant of the Hyper-IgM syndrome. The affected individuals are virtually always male, because males only have one X chromosome, received from their mothers. Their mothers are not symptomatic, even though they are carriers of the allele, because the trait is recessive. Male offspring of these women have a 50% chance of inheriting their mother's mutant allele.
Also known as: HIGM1, Hyper IgM Syndromes, X-linked hyper-IgM syndrome, XHIGM, hyper-IgM syndrome due to CD40 ligand deficiency, hyper-IgM syndrome due to CD40L deficiency, hyper-IgM syndrome type 1, hyper-IgM syndrome, X-linked
44 clinical trials for this condition and its sub-types, 3 tagged with Hyper-IgM syndrome type 1 itself.
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Gene editing tackles rare immune disease in first human test
Disease control Recruiting nowThis study tests a one-time gene therapy for a single person with X-linked Hyper-IgM syndrome, a rare immune disorder caused by a faulty CD40L gene. The participant's own stem cells and T cells are collected, edited in a lab to fix the gene mutation, and then infused back after c…
Phase 1/2 • Sponsor: National Institute of Allergy and Infectious Diseases (NIAID) • Aim: Disease control
Last updated Aug 02, 2026 00:00 UTC
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Stem cell transplant offers new hope for rare immune diseases
Disease control Recruiting nowThis study tests a stem cell transplant for people with common variable immunodeficiency (CVID) and other immune disorders. The goal is to replace the faulty immune system with a healthy donor's stem cells. Participants are aged 5 to 40 and will receive a reduced-intensity transp…
Phase 2 • Sponsor: Paul Szabolcs • Aim: Disease control
Last updated Jun 27, 2026 12:33 UTC