Expanding the Clinical and Genetic Spectrum of Human CD40L Deficiency: The Occurrence of Paracoccidioidomycosis and Other Unusual Infections in Brazilian Patients

@article{CabralMarques2011ExpandingTC,
  title={Expanding the Clinical and Genetic Spectrum of Human CD40L Deficiency: The Occurrence of Paracoccidioidomycosis and Other Unusual Infections in Brazilian Patients},
  author={Ot{\'a}vio Cabral-Marques and Lena-Friederike Schimke and Paulo V{\'i}tor Soeiro Pereira and Angela Falcai and Joao Bosco Oliveira and M. E. J. Hackett and Paolo Ruggero Errante and Cristina Worm Weber and Jana{\'i}ra Fernandes Ferreira and Gisele Kuntze and Nelson Augusto Ros{\'a}rio-Filho and Hans D. Ochs and Troy R. Torgerson and Beatriz Tavares Costa Carvalho and A Condino-neto},
  journal={Journal of Clinical Immunology},
  year={2011},
  volume={32},
  pages={212-220}
}
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… CONTINUE READING

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