Combined immunodeficiency
MONDO:0015131A broad classification of inherited disorders presenting at birth that affect both the cell-mediated and humoral aspects of the immune response. Circulating numbers of B lymphocytes, T lymphocytes and NK cells are variable but where present do not function properly. Susceptibility to infection is the primary concern.
Also known as: CID, congenital combined immunodeficiency, X-linked combined immunodeficiency, combined T and B cell immunodeficiency, combined T cell and B cell immunodeficiency
57 clinical trials for this condition and its sub-types, 3 tagged with Combined immunodeficiency itself.
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Sub-types of Combined immunodeficiency
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Severe combined immunodeficiency 24 trials · 37 incl. sub-types
11 sub-types
- Familial severe combined immunodeficiency 0 trials · 22 incl. sub-types Sub-types →
- T-B- severe combined immunodeficiency 0 trials · 14 incl. sub-types Sub-types →
- T-B+ severe combined immunodeficiency 0 trials · 10 incl. sub-types Sub-types →
- T+ B+ severe combined immunodeficiency 0 trials Sub-types →
- T-cell immunodeficiency, congenital alopecia, and nail dystrophy 0 trials
- Immunodeficiency 79 0 trials
- Janus kinase-3 deficiency 0 trials
- Recombinase activating gene 1 deficiency 0 trials
- Recombinase activating gene 2 deficiency 0 trials
- Severe combined immunodeficiency due to CARMIL2 deficiency 0 trials
- Severe combined immunodeficiency due to CD70 deficiency 0 trials
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Ataxia telangiectasia 11 trials
1 sub-type
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Wiskott-Aldrich syndrome 10 trials
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2 sub-types
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Non-SCID combined immunodeficiency 0 trials · 1 incl. sub-types
7 sub-types
- TCR-alpha-beta-positive T-cell deficiency 1 trial
- HELIOS deficiency 0 trials
- ITPKB deficiency 0 trials
- MAN2B2 deficiency 0 trials
- NIK deficiency 0 trials
- Non-severe combined immunodeficiency due to COPG1 deficiency 0 trials
- Non-severe combined immunodeficiency due to polymerase delta deficiency 0 trials Sub-types →
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MHC class I deficiency 0 trials
3 sub-types
- MHC class I deficiency 1 0 trials
- MHC class I deficiency 2 0 trials
- MHC class I deficiency 3 0 trials
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Combined immunodeficiency syndrome 0 trials
2 sub-types
Most studied deeper sub-types
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Gentler transplant shows promise for kids with blood diseases
Disease control CompletedThis study tests a milder chemotherapy and immune-suppressing regimen before a stem cell transplant for children and young adults with non-malignant blood disorders like sickle cell disease or immune deficiencies. The goal is to safely achieve donor cell engraftment with fewer si…
Phase 2 • Sponsor: Children's Hospital of Philadelphia • Aim: Disease control
Last updated Jul 23, 2026 00:00 UTC
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Bubble baby breakthrough? experimental cell shot aims to reboot immune system faster
Disease control CompletedThis early-phase trial tested whether injecting special immune-building cells (HTLPs) could help children with severe combined immunodeficiency (SCID) rebuild their immune system faster after a partially matched stem cell transplant. Only 4 children took part. The goal was to see…
Phase 1/2 • Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Disease control
Last updated Jun 27, 2026 12:36 UTC
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Could red blood cells deliver a steroid to ease a rare brain disorder?
Disease control CompletedThis Phase 3 trial tested a treatment called EryDex for people with ataxia telangiectasia (A-T), a rare genetic disease that affects movement and coordination. EryDex is a steroid (dexamethasone) packaged inside the patient's own red blood cells and given as an IV infusion every …
Phase 3 • Sponsor: Quince Therapeutics S.p.A. • Aim: Disease control
Last updated Jun 27, 2026 12:25 UTC
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Gene therapy offers hope for 'Bubble Boy' disease, but leukemia risk remains
Disease control CompletedThis trial tested a gene therapy for children with SCID-X1, a severe immune disorder, who do not have a matched bone marrow donor. The treatment involves harvesting the child's own bone marrow cells, fixing the broken gene in the lab, and infusing the corrected cells back after m…
Phase 1/2 • Sponsor: David Williams • Aim: Disease control
Last updated Jun 27, 2026 12:23 UTC
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Gene therapy offers hope for boys with severe immune disorder
Disease control CompletedThis trial tested a gene therapy for X-linked severe combined immunodeficiency (SCID-X1), a life-threatening condition where boys are born without a working immune system. Five boys who had no matching bone marrow donor received a single infusion of their own blood stem cells tha…
Phase 1/2 • Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Disease control
Last updated Jun 27, 2026 11:00 UTC
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Can an immune drug slow a rare childhood brain disease?
Symptom relief CompletedAtaxia-telangiectasia is a rare, inherited disease that damages the nervous system, skin, and immune system, and it has no cure. Researchers are testing sirolimus, an immune-suppressing drug, in children under 17 with the condition. The six participants take sirolimus by mouth fo…
Phase 2 • Sponsor: Sara Elva Espinosa Padilla, MD • Aim: Symptom relief
Last updated Sep 17, 2026 00:00 UTC
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New study aims to crack the code of autoimmune diseases
Knowledge-focused CompletedThis study is collecting blood, urine, and stool samples from 500 children with autoimmune diseases and healthy controls. Researchers will analyze these samples to find molecular patterns that could help diagnose these conditions and guide treatment decisions. The goal is to crea…
Sponsor: Institut National de la Santé Et de la Recherche Médicale, France • Aim: Knowledge-focused
Last updated Sep 20, 2026 00:00 UTC
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Large study looks at how a 25-Gene cancer test affects patients and families
Knowledge-focused CompletedThis study looked at how a genetic test that checks 25 genes linked to hereditary cancers is used in clinics. Over 1,500 people with a personal or family history of cancer took part. Researchers collected blood samples and had participants fill out questionnaires over five years …
Sponsor: University of Southern California • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:06 UTC