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

Issued Date

2021-03-01

Resource Type

Article

ISSN

22288694
0125877X

DOI

10.12932/AP-190618-0341

Other identifier(s)

2-s2.0-85102915501

Rights

Mahidol University

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SCOPUS

Bibliographic Citation

Asian Pacific Journal of Allergy and Immunology. Vol.39, No.1 (2021), 31-34

Suggested Citation

Punchama Pacharn, Wanatpreeya Phongsamart, Boonchai Boonyawat, Orathai Jirapongsananuruk, Nualanong Visitsunthorn, Kulkanya Chokephaibulkit Disseminated cryptococcosis in two boys with novel mutation of CD40 ligand-associated X-linked hyper-IgM syndrome. Asian Pacific Journal of Allergy and Immunology. Vol.39, No.1 (2021), 31-34. doi:10.12932/AP-190618-0341 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/77320

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Title

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

Author(s)

Punchama Pacharn
 Wanatpreeya Phongsamart
 Boonchai Boonyawat
 Orathai Jirapongsananuruk
 Nualanong Visitsunthorn
 Kulkanya Chokephaibulkit

Other Contributor(s)

Mahidol University
 Faculty of Medicine Siriraj Hospital, Mahidol University

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.

Keyword(s)

Immunology and Microbiology
 Medicine

Availability

URI

https://repository.li.mahidol.ac.th/handle/20.500.14594/77320

Collections

Scopus 2021