Hyper-IgE recurrent infection syndrome 4A, autosomal dominant
MONDO:0800131An immunologic disorder characterized by recurrent mainly sinopulmonary infections associated with increased serum IgE. The phenotype is variable, even within families. Some patients have onset of symptoms in early childhood and develop complications, including bronchiectasis or hemoptysis, whereas others have later onset of less severe infections. Immunologic workup usually shows normal leukocyte levels, although some patients may demonstrate alterations in lymphocyte subsets, including T cells. Affected individuals also have variable skeletal abnormalities, including high-arched palate, hyperextensible joints, scoliosis, and bone fractures. The IL6ST mutations are loss-of-function, although the truncated mutant proteins are expressed and interfere with the wildtype protein in a dominant-negative manner by disrupting IL6 and IL11 signaling.
41 clinical trials for this condition and its sub-types.
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New shot could help Immune-Compromised patients fight infections
Disease control OngoingThis phase 3 trial is testing a new medicine called Newnorm, a concentrated antibody solution given as a shot under the skin, in 50 people with primary immunodeficiency (a condition where the immune system doesn't work properly). The goal is to see if Newnorm can prevent serious …
Phase: PHASE3 • Sponsor: Octapharma • Aim: Disease control
Last updated Aug 08, 2026 00:03 UTC
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New antibody therapy aims to shield kids with rare immune disease from deadly infections
Disease control OngoingThis study tests a medicine called Kedrion IVIG 10% in 30 children with primary immunodeficiency, a condition where the immune system doesn't work properly. The treatment is made from donated antibodies and is given through a vein to help prevent serious bacterial infections. Res…
Phase: PHASE3 • Sponsor: Kedrion S.p.A. • Aim: Disease control
Last updated Jun 27, 2026 13:00 UTC
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Quick-Push immune therapy studied for safety and ease
Disease control OngoingThis study looks at whether giving Cutaquig® (a medicine that helps fight infections) by a faster manual push method is safe and easy for adults with primary or secondary immunodeficiency. About 36 participants will use the rapid push method at home. The goal is to see if this ap…
Sponsor: University of Alberta • Aim: Disease control
Last updated Jun 27, 2026 12:31 UTC
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New antibody therapy tested for long-term safety in immune-deficient patients
Disease control OngoingThis study tests the long-term safety of TAK-881, a subcutaneous immunoglobulin treatment, in 53 adults and children with primary immunodeficiency diseases (PIDD) who completed a prior study. Participants receive regular infusions every 2-4 weeks and are monitored for side effect…
Phase: PHASE3 • Sponsor: Takeda • Aim: Disease control
Last updated Jun 27, 2026 12:05 UTC
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Scientists collect skin cells to pave way for future immune disease cures
Knowledge-focused ENROLLING_BY_INVITATIONThis study collects small skin samples from people with primary immunodeficiency or immune regulation disorders, as well as from healthy volunteers. Researchers will use these cells to create cell lines for laboratory research. The goal is to better understand immune diseases and…
Sponsor: National Institute of Allergy and Infectious Diseases (NIAID) • Aim: Knowledge-focused
Last updated Aug 18, 2026 05:00 UTC