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Metadata
ID DOID:0051056
Name immunodeficiency 113
Definition A primary immunodeficiency disease that is characterized by recurrent infections and usually show features of autoimmunity and autoinflammation, such as hemolytic anemia, thrombocytopenia, hepatosplenomegaly, leukocytosis, neutrophilia, and elevated acute phase reactants, and that has_material_basis_in homozygous mutation in the ARPC5 gene on chromosome 1q25.
https://pubmed.ncbi.nlm.nih.gov/37349293/
Xrefs

MIM:620565

Parent Relationships

is_a primary immunodeficiency disease

is_a autosomal recessive disease

Subclass Logical Relationships

existence starts during some Infantile onset

has material basis in some autosomal recessive inheritance

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