Combined immunodeficiency

MONDO:0015131

A 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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Where it sits in the disease tree

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Part of

↑ Immunodeficiency disease (779)

Sub-types of Combined immunodeficiency

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
Ataxia telangiectasia 11 trials
1 sub-type
- Ataxia-telangiectasia with generalized skin pigmentation and early death 0 trials
Wiskott-Aldrich syndrome 10 trials
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia 2 trials
Combined immunodeficiency due to CRAC channel dysfunction 1 trial
2 sub-types
- Combined immunodeficiency due to ORAI1 deficiency 0 trials
- Combined immunodeficiency due to STIM1 deficiency 0 trials
Combined immunodeficiency due to ZAP70 deficiency 1 trial
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 →
IRF4-related combined immunodeficiency 0 trials
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
NFATC1-related combined immunodeficiency 0 trials
POLD3-related combined immunodeficiency 0 trials
RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome 0 trials
2 sub-types
- Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia 0 trials
- Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia 0 trials
Autosomal dominant combined immunodeficiency due to ERBIN deficiency 0 trials
Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency 0 trials
Autosomal recessive combined immunodeficiency due to IL6R deficiency 0 trials
Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency 0 trials
Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency 0 trials
Combined immunodeficiency due to CD3gamma deficiency 0 trials
Combined immunodeficiency due to CTPS1 deficiency 0 trials
Combined immunodeficiency due to GINS1 deficiency 0 trials
Combined immunodeficiency due to MALT1 deficiency 0 trials
Combined immunodeficiency due to OX40 deficiency 0 trials
Combined immunodeficiency due to POLE2 deficiency 0 trials
Combined immunodeficiency due to RELA haploinsufficiency 0 trials
Combined immunodeficiency due to STK4 deficiency 0 trials
Combined immunodeficiency due to TBX1 deficiency 0 trials
Combined immunodeficiency due to dimerization defective IKAROS mutation 0 trials
Combined immunodeficiency due to moesin deficiency 0 trials
Combined immunodeficiency syndrome 0 trials
2 sub-types
- IKZF2-related combined immunodeficiency 0 trials
- Combined immunodeficiency with faciooculoskeletal anomalies 0 trials
Combined immunodeficiency with low Ig due to BCL10 deficiency 0 trials
Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to IKBKA deficiency 0 trials
Early-onset combined immunodeficiency with low ig due to dominant negative IKAROS mutation 0 trials
Late-onset combined immunodeficiency due to ICOSL deficiency 0 trials

Most studied deeper sub-types

T-B+ severe combined immunodeficiency due to gamma chain deficiency (10) Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency (6) Omenn syndrome (4) Severe combined immunodeficiency due to DCLRE1C deficiency (3) Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive (2) T-B+ severe combined immunodeficiency due to JAK3 deficiency (2) DNA ligase IV deficiency (1) MHC class II deficiency (1) Reticular dysgenesis (1) T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency (1) Cernunnos-XLF deficiency (0) Combined immunodeficiency due to partial RAG1 deficiency (0) Combined immunodeficiency with skin granulomas (0) Combined immunodeficiency, X-linked (0) Immunodeficiency 104 (0) Immunodeficiency 105 (0) Immunodeficiency 120 (0) Immunodeficiency 18 (0) Immunodeficiency 19 (0) Immunodeficiency 25 (0)

Including sub-types (57) Tagged with Combined immunodeficiency (3)

Trials to join now! 1 Completed 1 Terminated 1

Gut virus linked to liver damage in immune-deficient patients?

Knowledge-focused Recruiting now

This study looks at 120 people with various immune deficiencies to see if a chronic gut virus infection is tied to liver or digestive problems. Researchers will collect blood, stool, urine, and biopsy samples to screen for enteric viruses. The goal is to identify which patients a…

Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused

Last updated Jun 27, 2026 08:00 UTC

Combined immunodeficiency

Where it sits in the disease tree

Most studied deeper sub-types

Gut virus linked to liver damage in immune-deficient patients?