Defect of plasmacytoid dendritic cells in warts, hypogammaglobulinemia, infections, myelokathexis (WHIM) syndrome patients.

Immunobiology Defect of plasmacytoid dendritic cells in warts , hypogammaglobulinemia , infections , myelokathexis ( WHIM ) syndrome patients

CXCL12 Mediates Aberrant Costimulation of B Lymphocytes in Warts, Hypogammaglobulinemia, Infections, Myelokathexis Immunodeficiency

The Warts, Hypogammaglobulinemia, Infections, Myelokathexis (WHIM) syndrome is an immunodeficiency caused by mutations in chemokine receptor CXCR4. WHIM patient adaptive immunity defects remain largely unexplained. We have previously shown that WHIM-mutant T cells form unstable immunological synapses, affecting T cell activation. Here, we show that, in WHIM patients and WHIM CXCR4 knock-in mice...

Altered leukocyte response to CXCL12 in patients with warts hypogammaglobulinemia, infections, myelokathexis (WHIM) syndrome.

The chemokine receptor CXCR4 and its functional ligand, CXCL12, are essential regulators of development and homeostasis of hematopoietic and lymphoid organs. Heterozygous truncating mutations in the CXCR4 intracellular tail cause a rare genetic disease known as WHIM syndrome (warts, hypogammaglobulinemia, infections, myelokathexis), whose pathophysiology remains unclear. We report CXCR4 functio...

WHIM syndrome: congenital immune deficiency disease.

PURPOSE OF REVIEW Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome is characterized by susceptibility to human papilloma virus infection-induced warts and carcinomas; neutropenia, B-cell lymphopenia and hypogammaglobulinema-related infections; and bone marrow myelokathexis (myeloid hyperplasia with apoptosis). The purpose of this report is to review new findings about...

A report of WHIM syndrome (myelokathexis) - clinical features and bone marrow morphology

DOI: 10.5581/1516-8484.20110105 Academia de Ciência e Tecnologia – AC & T, São José do Rio Preto, SP, Brazil Flavio Augusto Naoum Warts, Hypogammaglobulinemia, Infections and Myelokathexis (WHIM) syndrome is a very rare form of severe congenital neutropenia with approximately only 40 cases reported until now. The name of this syndrome, WHIM, describes its main features that include, but are not...