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Metadata
ID DOID:0112015
Name immunodeficiency 72
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.
https://pubmed.ncbi.nlm.nih.gov/32647003/
Xrefs

MIM:618982
Synonyms

immunodeficiency 72 with autoinflammation [EXACT]
Parent Relationships

is_a combined immunodeficiency

is_a autosomal recessive disease
Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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