Disseminated cryptococcosis in two boys with novel mutation of CD40 ligand-associated X-linked hyper-IgM syndrome

Punchama PacharnWanatpreeya PhongsamartBoonchai BoonyawatOrathai JirapongsananurukNualanong VisitsunthornKulkanya ChokephaibulkitMahidol UniversityFaculty of Medicine Siriraj Hospital, Mahidol University2022-08-042022-08-042021-03-01Asian Pacific Journal of Allergy and Immunology. Vol.39, No.1 (2021), 31-34222886940125877X2-s2.0-85102915501https://repository.li.mahidol.ac.th/handle/20.500.14594/77320X-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 immu-noglobulin supplementation.Mahidol UniversityImmunology and MicrobiologyMedicineDisseminated cryptococcosis in two boys with novel mutation of CD40 ligand-associated X-linked hyper-IgM syndromeArticleSCOPUS10.12932/AP-190618-0341