Expanding the clinical and genetic spectrum of human CD40L deficiency: the occurrence of paracoccidioidomycosis and other unusual infections in Brazilian patients.

doi:10.1007/s10875-011-9623-6

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Article

Expanding the clinical and genetic spectrum of human CD40L deficiency: the occurrence of paracoccidioidomycosis and other unusual infections in Brazilian patients.

Journal of clinical immunology - 1 Apr 2012

Cabral-Marques Otavio, Schimke Lena-Friederike, Pereira Paulo Vítor Soeiro, Falcai Angela, de Oliveira João Bosco, Hackett Mary J, Errante Paolo Ruggero, Weber Cristina Worm, Ferreira Janaíra Fernandes, Kuntze Gisele, Rosário-Filho Nelson Augusto, Ochs Hans D, Torgerson Troy R, Carvalho Beatriz Tavares Costa, Condino-Neto Antonio

Abstract excerpt

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...

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PMID: 22193914
DOI: 10.1007/s10875-011-9623-6

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