WHIM综合征一例及文献复习

WHIM syndrome： a case report and literature review

目的探讨WHIM综合征的临床特征，提高对疾病的认识。方法患儿为男性，11岁，临床诊断为WHIM综合征。通过基因测序的方法检测特异性基因CXCR4突变。结果患儿生后3岁开始出现反复发热、咳嗽，口服抗生素有效。6岁开始出现双手指尖疣状赘生物，逐渐增多，蔓延至各手指、手掌及手背。血常规检查：白细胞0．65×10^9／L，中性粒细胞0．15×10^9／L，血红蛋白116g／L，血小板200×10^9／L，网织红细胞（Ret）0．62％。血液生化检查：总蛋白72．2g／L（参考值60～80g/L），白蛋白51．8g／L（参考值35—55g/L），球蛋白20．4g／L（参考值20～35g/L）。IgG5．56g／L（参考值7．51—15．6g／L），IgA0．48g／L（参考值0．82～4．53g／L），IgM0．29g／L（参考值0．46—3．04g／L）。外周血淋巴细胞亚群检测：CD3^＋T细胞占淋巴细胞的43．6％（参考值64．01％一75．95％），CD19^＋B细胞占淋巴细胞的1．00％（参考值9．02％～14．1％）。骨髓及血涂片可见粒细胞特异形态异常，表现为核分叶过多，分叶核粒细胞各分叶间以细长丝相连，部分细胞质可见空泡。特异性基因CXCR4测序显示存在基因突变。结论通过典型病史特点、临床表现、实验室检查及基因分析确诊WHIM综合征1例。WHIM综合征是一种罕见的常染色体显性遗传性疾病，是具有疣、低丙种球蛋白血症、反复感染和先天性骨髓粒细胞缺乏四联症的免疫缺陷性疾病。CXCR4为常见的突变基因。疾病呈良性病程，可伴随终生。

Objective To study the clinical and laboratory characteristics of cases with warts, hypogammaglobulinemia, infections and myelokathexis （ WHIM ） syndrome. Method An 11-year-old boy was diagnosed as WHIM syndrome and CXCR4 gene mutation analysis was performed. Result 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）, Ign 0. 29 g/L （reference value O. 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. Conclusion 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.