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GTR Home > Conditions/Phenotypes > Immunodeficiency 105

Immunodeficiency 105

Synonyms
Immunodeficiency 105, severe combined

Summary

Immunodeficiency-105 (IMD105) is an autosomal recessive disorder characterized by onset of recurrent infections in early infancy. Manifestations may include pneumonia, dermatitis, and lymphadenopathy. B-cell lymphoma was reported in 1 patient. Laboratory studies show decreased or absent numbers of nonfunctional T cells, normal or increased levels of B cells, hypogammaglobulinemia, and normal or low NK cells. The disorder is caused by a deficiency of transmembrane protein CD45 (PTPRC) on leukocytes, which plays an important role in T- and B-cell development (Cale et al., 1997; Kung et al., 2000). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive SCID, see 601457. [from OMIM]

Available tests

2 tests are in the database for this condition.

Clinical tests (2 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: B220, CD45, CD45R, GP180, IMD105, L-CA, LCA, LY5, T200, PTPRC
    Summary: protein tyrosine phosphatase receptor type C

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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