immunodeficiency 58

Term ID

DOID:0111984

Synonyms

• IMD58
• severe combined immunodeficiency due to CARMIL2 deficiency

Definition

A combined T cell and B cell immunodeficiency characterized by defective T-cell function with decreased Treg cells and deficient CD3/CD28 costimulation responses in both CD4+ and CD8+ T cells, variable impairment in B-cell function, early-onset skin lesions, recurrent respiratory infections or allergies, and chronic persistent infections that has_material_basis_in homozygous or compound heterozygous mutation in the CARMIL2 gene on chromosome 16q22.1. (2)

References

• OMIM:618131
• ORDO:542301
• UMLS_CUI:C4748304

Ontology

Human Disease   ( DOID:0111984 )