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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… Click to show full abstract
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.
Keywords:
boys novel;
disseminated cryptococcosis;
igm syndrome;
cryptococcosis;
hyper igm;
linked hyper
Journal Title: Asian Pacific Journal of Allergy and Immunology
Year Published: 2018
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Journal Title: Asian Pacific Journal of Allergy and Immunology
Year Published: 2018
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!