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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Could a stool sample replace a spinal tap? new study tests Non-Invasive infection detection
Diagnosis Not yet recruitingThis study will test whether analyzing stool and urine samples using a technique called metagenomics can find infections in people with weakened immune systems (due to HIV, chemotherapy, or immunosuppressive drugs). Currently, doctors often need to take invasive samples like bloo…
Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Diagnosis
Last updated Jun 27, 2026 12:36 UTC
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Which infusion pump do patients prefer? new study aims to find out
Symptom relief Not yet recruitingThis study looks at how patients with primary or secondary immunodeficiency feel about using mechanical versus electronic infusion pumps for their immunoglobulin therapy. About 52 adults who have used electronic pumps will try a mechanical pump for three months and then report th…
Sponsor: KORU Medical Systems, Inc. • Aim: Symptom relief
Last updated Jun 27, 2026 07:51 UTC
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Can a Life-Saving transplant leave hidden scars on a Child's mind?
Knowledge-focused Not yet recruitingThis study looks at children aged 6 to 8 who had a stem cell transplant at least two years ago to treat a primary immunodeficiency—a genetic condition that weakens the immune system. Researchers will use standardized tests and interviews to measure the children's thinking skills,…
Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused
Last updated Aug 16, 2026 00:00 UTC
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New study aims to unravel mysteries of immune disorder complications
Knowledge-focused Not yet recruitingThis study looks back at medical records of about 60 people with primary immune deficiencies who also developed lymphoproliferative disorders (abnormal growth of immune cells). The goal is to track their health over time, including risks of death, cancer, or organ damage. By iden…
Sponsor: Central Hospital, Nancy, France • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:06 UTC
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New study to measure how immune disorders impact Kids' happiness
Knowledge-focused Not yet recruitingThis study looks at how children aged 6 to 18 with inborn errors of immunity (a condition where the immune system doesn't work properly) feel about their quality of life. Researchers will compare their answers to those of healthy children using a special questionnaire. The goal i…
Sponsor: Sohag University • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:01 UTC