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Title: Expanding the Clinical and Genetic Spectrum of Human CD40L Deficiency: the Occurrence of Paracoccidioidomycosis and Other Unusual Infections in Brazilian Patients
Authors: Cabral-Marques, Otavio
Schimke, Lena-Friederike
Soeiro Pereira, Paulo Vitor
Falcai, Angela
Oliveira, Joao Bosco de
Hackett, Mary J.
Errante, Paolo Ruggero
Weber, Cristina Worm
Ferreira, Janaira Fernandes
Kuntze, Gisele
Rosario-Filho, Nelson Augusto
Ochs, Hans D.
Torgerson, Troy R.
Costa-Carvalho, Beatriz Tavares [UNIFESP]
Condino-Neto, Antonio
Universidade de São Paulo (USP)
Univ Washington
Pediat Allergy & Immunol Clin
Albert Sabin Hosp
Pequeno Principe Hosp
Univ Fed Parana
Universidade Federal de São Paulo (UNIFESP)
Keywords: Paracoccidioides brasiliensis
CD40 ligand
primary immunodeficiency
X-linked hyper-IgM syndrome
Issue Date: 1-Apr-2012
Publisher: Springer
Citation: Journal of Clinical Immunology. New York: Springer/plenum Publishers, v. 32, n. 2, p. 212-220, 2012.
Abstract: CD40 ligand (CD40L) deficiency or X-linked hyper-IgM syndrome (X-HIGM) is a well-described primary immunodeficiency in which Pneumocystis jiroveci pneumonia is a common clinical feature. We have identified an unusual high incidence of fungal infections and other not yet described infections in a cohort of 11 X-HIGM patients from nine unrelated Brazilian families. Among these, we describe the first case of paracoccidioidomycosis (PCM) in X-HIGM. the molecular genetic analysis of CD40L was performed by gene sequencing and evaluation of CD40L protein expression. Nine of these 11 patients (82%) had fungal infections. These included fungal species common to CD40L deficiency (P. jiroveci and Candida albicans) as well as Paracoccidioides brasiliensis. One patient presented with PCM at age 11 years and is now doing well at 18 years of age. Additionally, one patient presented with a simultaneous infection with Klebsiella and Acinetobacter, and one with condyloma caused by human papilloma virus. Molecular analysis revealed four previously described CD40L mutations, two novel missense mutations (c.433 T>G and c.476 G>C) resulting in the absence of CD40L protein expression by activated CD4(+) cells and one novel insertion (c.484_485insAA) within the TNFH domain leading to a frame shift and premature stop codon. These observations demonstrated that the susceptibility to fungal infections in X-HIGM extends beyond those typically associated with X-HIGM (P. jiroveci and C. albicans) and that these patients need to be monitored for those pathogens.
ISSN: 0271-9142
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