Division of Allergy and Immunology, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Division of Infectious Diseases, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Asian Pac J Allergy Immunol. 2021 Mar;39(1):31-34. doi: 10.12932/AP-140218-0265.
X-linked hyper-IgM syndrome (XHIM) caused by CD40L mutations is a primary immunodeficiency condition that increases susceptibility to opportunistic infections. Disseminated cryptococcosis in XHIM is rarely reported in children. Here, we report two related boys who have a novel hemizygous frameshift c.208delC mutation of CD40L. They live in the western region of Thailand and developed disseminated cryptococcosis while receiving regular intravenous immunoglobulin supplementation.
X 连锁高免疫球蛋白 M 血症（XHIM）是一种由 CD40L 突变引起的原发性免疫缺陷病，增加了对机会性感染的易感性。儿童中罕见报道 XHIM 合并播散性隐球菌病。在此，我们报告了两例相关的男孩，他们均携带 CD40L 的新型半合子移码突变 c.208delC。他们居住在泰国西部，在接受常规静脉注射免疫球蛋白补充治疗时发生了播散性隐球菌病。
