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Metadata
ID DOID:0060973
Name WHIM syndrome 2
Definition An immunodeficiency disease that is characterized by chronic neutropenia and myelokathexis, which is impaired neutrophil mobilization from the bone marrow and that has_material_basis_in homozygous mutation in the CXCR2 gene on chromosome 2q35.
https://pubmed.ncbi.nlm.nih.gov/24777453/
Xrefs

MIM:619407
Synonyms

WARTS, HYPOGAMMAGLOBULINEMIA, INFECTIONS, AND MYELOKATHEXIS SYNDROME 2 [EXACT]
Parent Relationships

is_a primary immunodeficiency disease

is_a autosomal recessive disease
Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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