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We report the clinical and immunologic features and outcome in 56 patients with X-linked hyper-IgM syndrome, a disorder caused by mutations in the CD40 ligand gene. Upper and lower respiratory tract infections (the latter frequently caused by Pneumocystis carinii), chronic diarrhea, and liver involvement (both often associated with Cryptosporidium(More)
OBJECTIVE Determining Leptospira spp . antibody seroprevalence in an apparently healthy population and in groups at risk plus their associated factors in the town of Villavicencio in the Meta department of Colombia MATERIALS AND METHODS A cross-sectional epidemiological model was used (subjects being selected by convenience sampling). Blood-samples were(More)
X-linked hyper-IgM syndrome (X-HIM) is an immunodeficiency caused by mutations in the gene encoding the CD40 ligand (CD40L). A database (CD40Lbase) of CD40L mutations has now been established, and the resultant information, together with other mutations reported elsewhere in the literature, is presented here.
  • ASPERGILOSIS PULMONAR, PACIENTE PEDIÁTRICO, +4 authors Lina Eugenia Jaramillo Barberi
  • 2013
Introduction The resulting effects of exposure to fungi are diverse and amply documented. The clinical manifestations of infections due to fungi vary from mild symptoms, such as headache and allergy, to pulmonary invasive infections and infections of the central nervous (1,2). According to a study of autopsies between 1989 and 2003 in patients with(More)
It has been reported that adult women prefer the semi-sitting position over the supine position for the pelvic examination. We determined the effect of the pelvic examination position and the examiner's gender on adolescent anxiety with the pelvic examination. Adolescent girls (n = 112) aged 12 to 19 years were randomly assigned to a semi-sitting or supine(More)
We retrospectively analyzed the outcome of bone marrow transplantation (BMT) performed in 26 patients with Wiskott-Aldrich syndrome (WAS) in one center. Twenty-eight transplantation procedures were performed. Ten unselected patients received unmanipulated marrow from a donor with genetically identical human leukocyte antigen (HLA). Eight patients were cured(More)
We report the outcome of allogeneic bone marrow transplantation (BMT) in nine consecutive patients with Omenn syndrome treated between 1980 and 1989. Five patients received unmanipulated marrow from a related matched donor, and four received T cell-depleted marrow from a haploidentical donor. The patients were conditioned with cyclophosphamide (200 mg/kg)(More)
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