Elenga Narcisse, Dulorme Frederique, de Saint Basile Genevieve, Mahamat Aba
Pediatric Unit, Andree Rosemon Hospital, Cayenne, French Guiana.
J Pediatr Hematol Oncol. 2012 Oct;34(7):528-30. doi: 10.1097/MPH.0b013e318266ba8e.
The X-linked hyper-IgM (XHIM) syndrome is a rare form of primary immunodeficiency disorder characterized by hypogammaglobulinemia and impaired cell immunity.
We report history of Guianese family affected by XHIM syndrome. The eldest boy died at 7 months from pneumonia. The 5-month-old youngest boy presented with a potentially fatal episode of Pneumocystis jiroveci pneumonia. The diagnosis was done in the Pediatric Unit of Immunohematology of Hopital Necker in Paris.
This report points to the importance of diagnosis of XHIM to allow early treatment to minimize serious infections and to detect carriers in XHIM families for genetic counseling.
X连锁高IgM综合征（XHIM）是一种罕见的原发性免疫缺陷疾病，其特征为低丙种球蛋白血症和细胞免疫受损。
我们报告了一个受XHIM综合征影响的法属圭亚那家庭的病史。长子在7个月时死于肺炎。最小的男孩5个月大时出现了一次可能致命的耶氏肺孢子菌肺炎发作。诊断在巴黎内克尔医院免疫血液学儿科进行。
本报告指出了XHIM诊断的重要性，以便进行早期治疗，将严重感染降至最低，并在XHIM家庭中检测携带者以进行遗传咨询。
