WHIM syndrome 2

Term ID

DOID:0060973

Synonyms

• WARTS, HYPOGAMMAGLOBULINEMIA, INFECTIONS, AND MYELOKATHEXIS 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/

References

• MIM:619407

Ontology

Human Disease   ( DOID:0060973 )