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GTR Home > Conditions/Phenotypes > Severe combined immunodeficiency due to CARMIL2 deficiency

Severe combined immunodeficiency due to CARMIL2 deficiency

Synonyms
IMMUNODEFICIENCY 58
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Immunodeficiency-58 is an autosomal recessive primary immunologic disorder characterized by early-onset skin lesions, including eczematous dermatitis, infectious abscesses, and warts, recurrent respiratory infections or allergies, and chronic persistent infections with candida, Molluscum contagiosum, mycobacteria, EBV, bacteria, and viruses. Some patients may have gastrointestinal involvement, including inflammatory bowel disease, EBV+ smooth muscle tumors, and esophagitis. Immunologic analysis shows defective T-cell function with decreased Treg cells and deficient CD3/CD28 costimulation responses in both CD4+ and CD8+ T cells. B-cell function may also be impaired (summary by Wang et al., 2016 and Alazami et al., 2018). [from OMIM]

Available tests

14 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (14 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CARMIL2b, IMD58, LRRC16C, RLTPR, CARMIL2
    Summary: capping protein regulator and myosin 1 linker 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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