Nandan Devki, Nag Vimal Kumar, Trivedi Nitin, Singh Sarman
Department of Pediatrics, Post Graduate Institute of Medical Education and Research, Dr. Ram Manohar Lohia Hospital, New Delhi, India.
Department of Clinical Microbiology, All India Institute of Medical Sciences, New Delhi, India.
J Lab Physicians. 2014 Jul;6(2):114-6. doi: 10.4103/0974-2727.141510.
The X-linked hyper-immunoglobulin M syndrome (HIGM-1) is a rare genetic disorder characterized by elevated serum IgM levels and low to undetectable levels of serum IgG, IgA and IgE. These patients characteristically present with recurrent sinopulmonary infections and recurrent diarrhea. They also have high susceptibility for Pneumocystis jiroveci (PJ) pneumonia. Herein, we report a case of HGM-1 in a 5-year-old boy who presented with bronchiectasis and, possibly, PJ pneumonia. The diagnosis was established on the basis of clinical features, immune profile, whole blood flow cytometry and history of two male sibling's death due to recurrent pneumonia and diarrhea.
X连锁高免疫球蛋白M综合征（HIGM-1）是一种罕见的遗传性疾病，其特征为血清IgM水平升高，而血清IgG、IgA和IgE水平低至检测不到。这些患者的典型表现是反复发生鼻窦肺部感染和反复腹泻。他们还极易感染耶氏肺孢子菌（PJ）肺炎。在此，我们报告一例5岁男孩的HGM-1病例，该男孩表现为支气管扩张，可能还有PJ肺炎。诊断基于临床特征、免疫谱、全血流式细胞术以及两名男性同胞因反复肺炎和腹泻死亡的病史。
