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severe combined immunodeficiency due to CARMIL2 deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

severe combined immunodeficiency due to CARMIL2 deficiency

MONDO:0029134

Also known as:immunodeficiency 58IMD58

Overview

GeneticsAutosomal recessive · CARMIL2 (chr 16)

ResearchLimited published research (5 articles)

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: Failure to thrive, Psoriasiform lesion, and Recurrent cutaneous abscess formation; and common findings: Muscle spasm, Molluscum contagiosum, Chronic pulmonary obstruction, and Recurrent pneumonia and others. 38 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lungs and breathing	7	Chronic pulmonary obstruction, Recurrent pneumonia, Asthma

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.

CARMIL2 encodes capping protein regulator and myosin 1 linker 2 (1,435 aa). Cell membrane-cytoskeleton-associated protein that plays a role in the regulation of actin polymerization at the barbed end of actin filaments. Highest expression in Cells EBV-transformed lymphocytes (50.0 TPM) and Spleen (40.5 TPM).

Severe combined immunodeficiency due to CARMIL2 deficiency is caused by mutations in the CARMIL2 gene on chromosome 16.

CARMIL2 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for CARMIL2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features, 19 common 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 CARMIL2 deficiency.

5 publications have been identified in PubMed for severe combined immunodeficiency due to CARMIL2 deficiency. Research spans Case Report / Case Series (80%) and Basic Science / Preclinical (20%).

Recent Publications

Oussama K (2026). [PMID: 42115812](https://pubmed.ncbi.nlm.nih.gov/42115812/). *Allergol Immunopathol (Madr)*. [Case Report / Case Series]
Ghannam SIA (2025). [PMID: 41207919](https://pubmed.ncbi.nlm.nih.gov/41207919/). *Journal of clinical immunology*. [Case Report / Case Series]
Andriano A (2025). [PMID: 39873967](https://pubmed.ncbi.nlm.nih.gov/39873967/). *Intern Emerg Med*. [Basic Science / Preclinical]
Niehues T (2024). [PMID: 39381601](https://pubmed.ncbi.nlm.nih.gov/39381601/). *Allergologie select*. [Case Report / Case Series]
Rao LP (2024). [PMID: 39649299](https://pubmed.ncbi.nlm.nih.gov/39649299/). *Indian J Nephrol*. [Case Report / Case Series]

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 11:57 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618131

Orphanet

European rare disease database

Orphanet:542301

GARD

Genetic and Rare Diseases Info Center

GARD:17981

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 CARMIL2 deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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