title: [WHIM syndrome: a case report and literature review].
abstract: OBJECTIVE
  To study the clinical and laboratory characteristics of cases with warts, hypogammaglobulinemia, infections and myelokathexis (WHIM) syndrome.
  
  
  METHODS
  An 11-year-old boy was diagnosed as WHIM syndrome and CXCR4 gene mutation analysis was performed.
  
  
  RESULTS
  Since 3 years of age, the patient had recurrent fever and persistent cough. Since 6 years of age, he had warts on his fingers, the warts increased gradually. His complete blood count showed: white blood cell (WBC) 0.65×10(9)/L, neutrophil 0.15×10(9)/L, hemoglobin 116 g/L, platelet 200×10(9)/L, reticulocyte 0.62%. Results of serum biochemical tests: total protein (TP) 72.2 g/L (reference value 60 - 80 g/L), albumin 20.4 g/L (reference value 20 - 35 g/L), gammaglobulin 20.4 g/L (reference value 20 - 35 g/L). IgG 5.56 g/L (reference value 7.51 - 15.6 g/L), IgA 0.48 g/L (reference value 0.82 - 4.53 g/L), IgM 0.29 g/L (reference value 0.46 - 3.04 g/L). Peripheral blood lymphocyte subsets: CD3(+)T lymphocyte 43.6% (reference value 64.01% - 75.95%), CD19(+)B lymphocyte 1.00% (reference value 9.02% - 14.1%). Bone marrow smears showed that many of the neutrophils had a reactive appearance, with cytoplasmic vacuolation. Most neutrophils had hypersegmentation with four or five nuclear lobules. In some cells, the filaments connecting the nuclear lobes were long. CXCR4 mutation was detected.
  
  
  CONCLUSIONS
  WHIM syndrome is a rare immunodeficiency disorder with an autosomal-dominant pattern of inheritance. The disease is less progressive, and may accompany the patients' whole life.
authors.affiliation: Department of Pediatrics, Institute of Hematology and Blood Disease Hospital, Chinese Academy of Medical Sciences, Tianjin 300020, China.
authors.forename: Xiao-juan
authors.initials: XJ
authors.lastname: Chen
authors.forename: Wen-yu
authors.initials: WY
authors.lastname: Yang
authors.forename: Shu-chun
authors.initials: SC
authors.lastname: Wang
authors.forename: Ye
authors.initials: Y
authors.lastname: Guo
authors.forename: Fang
authors.initials: F
authors.lastname: Liu
authors.forename: Ben-quan
authors.initials: BQ
authors.lastname: Qi
authors.forename: Li-xian
authors.initials: LX
authors.lastname: Chang
authors.forename: Jian-feng
authors.initials: JF
authors.lastname: Zhou
authors.forename: Wen-bin
authors.initials: WB
authors.lastname: An
authors.forename: Wei
authors.initials: W
authors.lastname: Wei
authors.forename: Yang
authors.initials: Y
authors.lastname: Wan
authors.forename: Xiao-fan
authors.initials: XF
authors.lastname: Zhu
mesh_terms: D000380:Agranulocytosis / Q000235:genetics / Q000473:pathology; D000595:Amino Acid Sequence; D002648:Child; D006801:Humans; D007136:Immunoglobulins / Q000097:blood; D007150:Immunohistochemistry; D007153:Immunologic Deficiency Syndromes / Q000235:genetics* / Q000473:pathology*; D007958:Leukocyte Count; D008297:Male; D009154:Mutation; D000081207:Primary Immunodeficiency Diseases; D019718:Receptors, CXCR4 / Q000235:genetics*; D014860:Warts / Q000235:genetics* / Q000473:pathology*
chemical_list: C527276:CXCR4 protein, human; D007136:Immunoglobulins; D019718:Receptors, CXCR4