Ontology highlight
ABSTRACT:
SUBMITTER: McDermott DH
PROVIDER: S-EPMC6425947 | biostudies-literature | 2019 Jan
REPOSITORIES: biostudies-literature
McDermott David H DH Pastrana Diana V DV Calvo Katherine R KR Pittaluga Stefania S Velez Daniel D Cho Elena E Liu Qian Q Trout Hugh H HH Neves João F JF Gardner Pamela J PJ Bianchi David A DA Blair Elizabeth A EA Landon Emily M EM Silva Susana L SL Buck Christopher B CB Murphy Philip M PM
The New England journal of medicine 20190101 2
WHIM syndrome (warts, hypogammaglobulinemia, infections, and myelokathexis), a primary immunodeficiency disorder involving panleukopenia, is caused by autosomal dominant gain-of-function mutations in CXC chemokine receptor 4 (CXCR4). Myelokathexis is neutropenia caused by neutrophil retention in bone marrow. Patients with WHIM syndrome are often treated with granulocyte colony-stimulating factor (G-CSF), which can increase neutrophil counts but does not affect cytopenias other than neutropenia. ...[more]