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 )

Relationships

is a type of: autosomal recessive disease primary immunodeficiency disease

autosomal recessive disease primary immunodeficiency disease Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models