immunodeficiency 72 (DOID:0112015)
Alliance: disease page
Synonyms: immunodeficiency 72 with autoinflammation
Alt IDs: OMIM:618982
Definition: A combined immunodeficiency characterized by onset in the first year of life of recurrent infections or systemic inflammation, increased susceptibility to bacterial and viral infections, development of atopy or allergies, hepatosplenomegaly, lymphoproliferation and variable immune cell abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the NCKAP1L gene on chromosome 12q13.1-q13.2.