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GTR Home > Conditions/Phenotypes > Immunodeficiency 64

Immunodeficiency 64

Synonyms
IMMUNODEFICIENCY 64 WITH LYMPHOPROLIFERATION

Summary

Immunodeficiency-64 with lymphoproliferation (IMD64) is an autosomal recessive primary immunodeficiency characterized by onset of recurrent bacterial, viral, and fungal infections in early childhood. Laboratory studies show variably decreased numbers of T cells, with lesser deficiencies of B and NK cells. There is impaired T-cell proliferation and activation; functional defects in B cells and NK cells may also be observed. Patients have increased susceptibility to EBV infection and may develop lymphoproliferation or EBV-associated lymphoma. Some patients may develop features of autoimmunity (summary by Salzer et al., 2016, Mao et al., 2018, and Winter et al., 2018). [from OMIM]

Available tests

10 tests are in the database for this condition.

Clinical tests (10 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CALDAG-GEFI, CALDAG-GEFII, IMD64, RASGRP, RASGRP1
    Summary: RAS guanyl releasing protein 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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