Publication: Disseminated cryptococcosis in two boys with novel mutation of CD40 ligand-associated X-linked hyper-IgM syndrome
dc.contributor.author | Punchama Pacharn | en_US |
dc.contributor.author | Wanatpreeya Phongsamart | en_US |
dc.contributor.author | Boonchai Boonyawat | en_US |
dc.contributor.author | Orathai Jirapongsananuruk | en_US |
dc.contributor.author | Nualanong Visitsunthorn | en_US |
dc.contributor.author | Kulkanya Chokephaibulkit | en_US |
dc.contributor.other | Mahidol University | en_US |
dc.contributor.other | Faculty of Medicine Siriraj Hospital, Mahidol University | en_US |
dc.date.accessioned | 2022-08-04T08:51:25Z | |
dc.date.available | 2022-08-04T08:51:25Z | |
dc.date.issued | 2021-03-01 | en_US |
dc.description.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 immu-noglobulin supplementation. | en_US |
dc.identifier.citation | Asian Pacific Journal of Allergy and Immunology. Vol.39, No.1 (2021), 31-34 | en_US |
dc.identifier.doi | 10.12932/AP-190618-0341 | en_US |
dc.identifier.issn | 22288694 | en_US |
dc.identifier.issn | 0125877X | en_US |
dc.identifier.other | 2-s2.0-85102915501 | en_US |
dc.identifier.uri | https://repository.li.mahidol.ac.th/handle/20.500.14594/77320 | |
dc.rights | Mahidol University | en_US |
dc.rights.holder | SCOPUS | en_US |
dc.source.uri | https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85102915501&origin=inward | en_US |
dc.subject | Immunology and Microbiology | en_US |
dc.subject | Medicine | en_US |
dc.title | Disseminated cryptococcosis in two boys with novel mutation of CD40 ligand-associated X-linked hyper-IgM syndrome | en_US |
dc.type | Article | en_US |
dspace.entity.type | Publication | |
mu.datasource.scopus | https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85102915501&origin=inward | en_US |