Paracoccidioidomicose: estudo clínico e epidemiológico de 422 casos observados no Estado de Mato Grosso do Sul Paracoccidioidomycosis: a clinical and epidemiological study of 422 cases observed in Mato Grosso do Sul

São descritas as características clínicas e epidemiológicas de 422 casos de paracoccidioidomicose atendidos no Hospital Universitário da Universidade Federal do Mato Grosso do Sul (Campo Grande, Mato Grosso do Sul, Brasil) no período de Janeiro de 1980 a Agosto de 1999. A média de idade foi de 43,4 anos e a proporção homem: mulher foi de 10:1. Quase metade (45,5%) dos doentes era trabalhadora rural no momento do diagnóstico. A forma aguda/subaguda (tipo juvenil)(15,4% dos casos) revelou-se com importante comprometimento do sistema fagocítico-monocitário, manifestado principalmente por adenomegalia (95,4%); hepatomegalia (40%); esplenomegalia (23,1%). A forma crônica (tipo adulto)(84,6% dos casos) apresentou-se com maiores proporções de lesões em orofaringe (66,4%); rouquidão (31,4%) e tosse (50,7%). Para o diagnóstico, foram utilizados o exame micológico direto em 365 pacientes e o histopatológico em 302, com positividade de 50,7% e 97,3%, respectivamente. O tratamento antifúngico preferencial foi a associação de sulfametoxazol e trimetoprim (co-trimoxazol), utilizado em 90,3% dos doentes. Seqüelas foram observadas em 30,3% e óbito em 7,6% dos casos.<br>Clinical and epidemiological features of 422 cases of paracoccidioidomycosis attended at University Hospital of Universidade Federal de Mato Grosso do Sul (Campo Grande, Mato Grosso do Sul, Brazil) from January 1980 to August 1999, were analysed. The mean age was 43.4 years old and the male: female ratio was 10:1. Nearly half (45.5%) of the patients were agricultural workers at the moment of diagnosis. In the acute/subacute form (juvenile type) the phagocytic-monocytic system was very much impaired and mainly marked by lymphadenopathy (95.4%), hepatomegaly (40%), splenomegaly (23.1%). The chronic form (adult type) presents more lesions in oropharynx (66.4%), dysphonia (31.4%) and cough (50.7%). Mycological diagnosis was obtained by direct microscopy of wet mounts in 185/365 (50.7%) patients and by histopathological examination of biopsies in 294/302 (97.3%) patients. The treatment of choice was Sulfamethoxazole/ trimethoprim (Co-trimoxazole), used in 90.3% patients. Sequelae occurred in 30.3% and death in 7.6% of the cases

First Report of the Hyper-IgM Syndrome Registry of the Latin American Society for Immunodeficiencies: Novel Mutations, Unique Infections, and Outcomes

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Hyper-IgM (HIGM) syndrome is a heterogeneous group of disorders characterized by normal or elevated serum IgM levels associated with absent or decreased IgG, IgA and IgE. Here we summarize data from the HIGM syndrome Registry of the Latin American Society for Immunodeficiencies (LASID). Of the 58 patients from 51 families reported to the registry with the clinical phenotype of HIGM syndrome, molecular defects were identified in 37 patients thus far. We retrospectively analyzed the clinical, immunological and molecular data from these 37 patients. CD40 ligand (CD40L) deficiency was found in 35 patients from 25 families and activation-induced cytidine deaminase (AID) deficiency in 2 unrelated patients. Five previously unreported mutations were identified in the CD40L gene (CD40LG). Respiratory tract infections, mainly pneumonia, were the most frequent clinical manifestation. Previously undescribed fungal and opportunistic infections were observed in CD40L-deficient patients but not in the two patients with AID deficiency. These include the first cases of pneumonia caused by Mycoplasma pneumoniae, Serratia marcescens or Aspergillus sp. and diarrhea caused by Microsporidium sp. or Isospora belli. Except for four CD40L-deficient patients who died from complications of presumptive central nervous system infections or sepsis, all patients reported in this study are alive. Four CD40L-deficient patients underwent successful bone marrow transplantation. This report characterizes the clinical and genetic spectrum of HIGM syndrome in Latin America and expands the understanding of the genotype and phenotype of this syndrome in tropical areas.342146156Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Jeffrey Modell FoundationLatin American Advisory Board on Primary Immunodeficiencies initiativeFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)FAPESP [2012/50515-4, 2006/57643-7, 2012/51745-3