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severe combined immunodeficiency due to CARD11 deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

severe combined immunodeficiency due to CARD11 deficiency

MONDO:0014081

Also known as:SCID due to CARD11 deficiencyimmunodeficiency 11Aimmunodeficiency type 11

Overview

Severe combined immunodeficiency due to CARD11 deficiency is a rare combined T and B cell immunodeficiency characterized by normal numbers of T and B lymphocytes, increased numbers of transitional B cells and hypo- to agammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell functions. It presents with severe susceptibility to infections, including opportunistic infections.

GeneticsAutosomal recessive · CARD11 (chr 7)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Decreased circulating immunoglobulin concentration, Agammaglobulinemia, Pneumocystis jirovecii pneumonia, and Decreased regulatory T cell proportion and others.

Organ System	Phenotype Count	Example Features
Lungs and breathing	2	Pneumocystis jirovecii pneumonia, Recurrent respiratory infections

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

CARD11 encodes caspase recruitment domain family member 11 (1,154 aa). Adapter protein that plays a key role in adaptive immune response by transducing the activation of NF-kappa-B downstream of T-cell receptor (TCR) and B-cell receptor (BCR) engagement. Highest expression in Cells EBV-transformed lymphocytes (65.8 TPM) and Spleen (55.0 TPM).

Severe combined immunodeficiency due to CARD11 deficiency is caused by mutations in the CARD11 gene on chromosome 7.

The CARD11 protein participates in RNF181 polyubiquinates BCL10 and Ub:UBE2D1,UBE2D2,UBE2D3, UBE2E1,UBE2N pathways.

CARD11 is classified as a druggable target (Clinically Actionable and Kinase categories) with score 0.0.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for CARD11 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for severe combined immunodeficiency due to CARD11 deficiency has been reported in the published literature.

Prognosis

Phenotype severity distribution: 8 always present features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for severe combined immunodeficiency due to CARD11 deficiency.

121 publications have been identified in PubMed for severe combined immunodeficiency due to CARD11 deficiency. Research spans Epidemiology / Natural History (26%), Review / Meta-Analysis (24%), and Basic Science / Preclinical (21%).

Research Type	Count	% of Total
Disease patterns and progression	32	26%

Data assembled from 7 of 12 sources · Last updated Sep 20, 2026, 11:33 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615206

Orphanet

European rare disease database

Orphanet:357237

GARD

Genetic and Rare Diseases Info Center

GARD:17549

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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severe combined immunodeficiency due to CARD11 deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

severe combined immunodeficiency due to CARD11 deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications