Diagnostic de syndrome WHIM évoqué devant l'observation de myélokathexis WHIM syndrome: presumptive diagnosis based on myelokathexis on bone marrow smear

The WHIM syndrome is a rare congenital immunodeficiency disorder characterized by human papillomavirus (HPV)-induced warts, hypo111 Pour citer cet article : Bock I, Dugue F, Loppinet E, Bellanne-Chantelot C, Benet B. Diagnostic de syndrome WHIM evoque devant l’observation de myelokathexis. Ann Biol Clin 2014 ; 72(1) : 111-9 doi:10.1684/abc.2013.0928 rticle recu le 14 octobre 2013, ccepte le 16 octobre 2013 gammaglobulinemia, bacterial infections and myelokathexis. Myelokathexis refers to abnormal retention of mature neutrophils in the bone marrow leading to severe neutropenia. We report the case of a 20 year old man presenting with chronic and severe neutropenia since early childhood without established diagnosis. He was addressed for chronic parodontal disease treatment. Examination of bone marrow smear showed morphological abnormalities of mature neutrophils strongly suggestive of myelokathexis. Diagnosis of WHIM syndrome was confirmed by molecular analysis: a nonsense mutation was identified in the gene encoding CXCR4, the CXCL12 (or SDF-1) chemokine receptor which notably controls cell adhesion to the marrow stroma and thereby regulates mature leukocytes release from the bone marrow. Treatment of the disease usually consists in prophylactic anti-infective measures including intravenous immunoglobulins