Disease

immunodeficiency 40

Definition
A combined T cell and B cell immunodeficiency characterized by reduced T-cell number and function, with variable defects in B-cell and NK-cell function resulting in onset in early childhood of invasive bacterial and viral infections that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK2 gene on chromosome 5q35.1.
Synonyms
  • DOCK2 deficiency
  • IMD40
Cross References
Parent Terms
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None
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