Severe combined immunodeficiency
MONDO:0015974Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID). Both of these groups include several forms, with or without natural killer (NK) cells.
Also known as: SCID, severe combined immunodeficiency, severe combined immunodeficiency (disease), severe combined immunodeficiency disease
38 clinical trials for this condition and its sub-types, 24 tagged with Severe combined immunodeficiency itself.
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Sub-types of Severe combined immunodeficiency
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Familial severe combined immunodeficiency 0 trials · 22 incl. sub-types
14 sub-types
- T-B+ severe combined immunodeficiency due to gamma chain deficiency 10 trials
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 6 trials
- Omenn syndrome 4 trials
- Severe combined immunodeficiency due to DCLRE1C deficiency 3 trials
- T-B+ severe combined immunodeficiency due to JAK3 deficiency 2 trials
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 2 trials
- MHC class II deficiency 1 trial Sub-types →
- Reticular dysgenesis 1 trial Sub-types →
- Cernunnos-XLF deficiency 0 trials
- Immunodeficiency 104 0 trials
- Immunodeficiency 105 0 trials
- Immunodeficiency 18 0 trials
- Immunodeficiency 19 0 trials
- Immunodeficiency 49 0 trials
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T-B- severe combined immunodeficiency 0 trials · 14 incl. sub-types
16 sub-types
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 6 trials
- Omenn syndrome 4 trials
- Severe combined immunodeficiency due to DCLRE1C deficiency 3 trials
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 2 trials
- DNA ligase IV deficiency 1 trial
- Reticular dysgenesis 1 trial Sub-types →
- Cernunnos-XLF deficiency 0 trials
- Combined immunodeficiency due to partial RAG1 deficiency 0 trials
- Combined immunodeficiency with skin granulomas 0 trials
- Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia 0 trials
- Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia 0 trials
- Neutrophil immunodeficiency syndrome 0 trials
- Reticular dysgenesis-like severe combined immunodeficiency 0 trials
- Severe combined immunodeficiency due to DNA-PKcs deficiency 0 trials
- Severe combined immunodeficiency due to LCK deficiency 0 trials
- Short-limb skeletal dysplasia with severe combined immunodeficiency 0 trials
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T-B+ severe combined immunodeficiency 0 trials · 10 incl. sub-types
10 sub-types
- T-B+ severe combined immunodeficiency due to gamma chain deficiency 10 trials
- T-B+ severe combined immunodeficiency due to JAK3 deficiency 2 trials
- T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency 1 trial
- T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta 0 trials Sub-types →
- T-B+ severe combined immunodeficiency due to CD45 deficiency 0 trials
- Combined immunodeficiency, X-linked 0 trials
- Immunodeficiency 104 0 trials
- Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome 0 trials
- Severe combined immunodeficiency due to CORO1A deficiency 0 trials
- Severe combined immunodeficiency due to LAT deficiency 0 trials
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2 sub-types
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Immunodeficiency 79 0 trials
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Janus kinase-3 deficiency 0 trials
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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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