WHIM syndrome

The syndrome of warts, hypogammaglobulinemia, immunodeficiency, and myelokathexis (WHIM) is an autosomal dominant immunologic disorder in which mature neutrophil fail to exit the bone marrow and B- and T-cell abundance or function is variably deficient. The syndrome is cause by mutations in CXCR4, a chemokine receptor expressed by hematopoietic and non-hematopoietic cells. The ligand CXCL12 (SDF-1) is a homeostatic chemokine with a central role in hematopoietic cells homing to and release from bone marrow. Neutrophils and lymphocytes from affected patients present a chemotaxis towards CXCL12 that could explain the innapropriate retention of mature neutrophils in the bone marrow causing the peripheral neutropenia.

Alternative names


WARTS, hypogammaglobulinemia, infections, and 'myelokathexis'

WARTS, hypogammaglobulinemia, recurrent bacterial infections, and myelokathexis

Warts, hypogammaglobulinemia, infections, and myelokathexis syndrome


  • Defects of innate immune system, receptors and signaling components


Autosomal dominant


#193670 WHIM syndrome

*162643 Chemokine, CXC motif, receptor 4; CXCR4

Cross references

Phenotypically related immunodeficiencies

IDR factfile for X-linked hypogammaglobulinemia with growth hormone deficiency


Incidence is not known.