WHIM syndrome

Also known as: Warts, hypogammaglobulinemia, infections and myelokathexis

Immunodeficiency with neutropenia from retention of neutrophils in marrow.

Medical specialty: Hematology
Subspecialty: Hematology / Bone marrow failure
Sex & age distribution: Male: affected; Female: affected; Children: yes
Gene(s) involved: CXCR4

Etiology & mechanism

CXCR4 gain of function.

Gene(s) involved (1)

CXCR4

Symptoms & signs (5)

hypogammaglobulinemiamyelokathexisneutropeniarecurrent bacterial infectionswarts

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.