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

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

doi:10.12932/AP-190618-0341

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

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

Department of Pediatrics

Mahidol University
Siriraj Hospital

Research output: Contribution to journal › Article › peer-review

4 Citations (Scopus)

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.

Original language	English
Pages (from-to)	31-34
Number of pages	4
Journal	Asian Pacific Journal of Allergy and Immunology
Volume	39
Issue number	1
DOIs	https://doi.org/10.12932/AP-190618-0341
Publication status	Published - Mar 2021

Keywords

CD40 ligand
Disseminated cryptococcosis
Novel mutation
Thailand
X-linked hyper-IgM syndrome

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10.12932/AP-190618-0341

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

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.",

keywords = "CD40 ligand, Disseminated cryptococcosis, Novel mutation, Thailand, X-linked hyper-IgM syndrome",

author = "Punchama Pacharn and Wanatpreeya Phongsamart and Boonchai Boonyawat and Orathai Jirapongsananuruk and Nualanong Visitsunthorn and Kulkanya Chokephaibulkit",

year = "2021",

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doi = "10.12932/AP-190618-0341",

language = "English",

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T1 - Disseminated cryptococcosis in two boys with novel mutation of CD40 ligand-associated X-linked hyper-IgM syndrome

AU - Pacharn, Punchama

AU - Phongsamart, Wanatpreeya

AU - Boonyawat, Boonchai

AU - Jirapongsananuruk, Orathai

AU - Visitsunthorn, Nualanong

AU - Chokephaibulkit, Kulkanya

PY - 2021/3

Y1 - 2021/3

N2 - 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.

AB - 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.

KW - CD40 ligand

KW - Disseminated cryptococcosis

KW - Novel mutation

KW - Thailand

KW - X-linked hyper-IgM syndrome

UR - https://www.scopus.com/pages/publications/85102915501

U2 - 10.12932/AP-190618-0341

DO - 10.12932/AP-190618-0341

M3 - Article

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AN - SCOPUS:85102915501

SN - 0125-877X

VL - 39

SP - 31

EP - 34

JO - Asian Pacific Journal of Allergy and Immunology

JF - Asian Pacific Journal of Allergy and Immunology

IS - 1

ER -

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

Abstract

Keywords

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