Disseminated cryptococcosis in two boys with novel mutation of CD40 Ligand-Associated X-linked hyper-IgM syndrome.

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

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

Afiliação

Pacharn P; Division of Allergy and Immunology, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Phongsamart W; Division of Infectious Diseases, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Boonyawat B; Division of Genetics, Department of Pediatrics, Phramongkutklao College of Medicine, Mahidol University, Bangkok, Thailand.
Jirapongsananuruk O; ivision of Allergy and Immunology, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Visitsunthorn N; Division of Allergy and Immunology, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Chokephaibulkit K; Division of Infectious Diseases, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.

Asian Pac J Allergy Immunol ; 39(1): 31-34, 2021 Mar.

Article em En | MEDLINE | ID: mdl-30447657

ABSTRACT

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.

Assuntos

Ligante de CD40/genética; Criptococose/genética; Síndrome de Imunodeficiência com Hiper-IgM/genética; Anfotericina B/uso terapêutico; Antifúngicos/uso terapêutico; Criança; Criptococose/tratamento farmacológico; Fluconazol/uso terapêutico; Humanos; Síndrome de Imunodeficiência com Hiper-IgM/tratamento farmacológico; Imunoglobulinas Intravenosas/uso terapêutico; Masculino; Mutação

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Criptococose / Ligante de CD40 / Síndrome de Imunodeficiência com Hiper-IgM Tipo de estudo: Risk_factors_studies Limite: Child / Humans / Male Idioma: En Revista: Asian Pac J Allergy Immunol Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Tailândia

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