7th Drug hypersensitivity meeting: part two

No abstract availabl

Changes in sensitization pattern in allergic brazilian children: first results from 2 cross-sectional studies 12 years apart (proal I & II)

Univ Fed São Paulo, São Paulo, BrazilUniv Fed Sergipe, Aracaju, BrazilUniv Fed Mato Grosso, Cuiaba, BrazilUniv São Paulo, São Paulo, BrazilUniv Fed Parana, Curitiba, Parana, BrazilUniv Fed Rio de Janeiro, Rio De Janeiro, BrazilUniv Passo Fundo, Passo Fundo, BrazilMed Univ Santo Andre, Santo Andre, BrazilUniv Fed Pernambuco, Recife, PE, BrazilNipo Brasileiro Hosp, São Paulo, BrazilUniv Fed Goias, Goiania, Go, BrazilThermoFisher Sci, Uppsala, SwedenUniv Fed São Paulo, São Paulo, BrazilWeb of Scienc

Inherited IFNAR1 deficiency in otherwise healthy patients with adverse reaction to measles and yellow fever live vaccines.

Vaccination against measles, mumps, and rubella (MMR) and yellow fever (YF) with live attenuated viruses can rarely cause life-threatening disease. Severe illness by MMR vaccines can be caused by inborn errors of type I and/or III interferon (IFN) immunity (mutations in IFNAR2, STAT1, or STAT2). Adverse reactions to the YF vaccine have remained unexplained. We report two otherwise healthy patients, a 9-yr-old boy in Iran with severe measles vaccine disease at 1 yr and a 14-yr-old girl in Brazil with viscerotropic disease caused by the YF vaccine at 12 yr. The Iranian patient is homozygous and the Brazilian patient compound heterozygous for loss-of-function IFNAR1 variations. Patient-derived fibroblasts are susceptible to viruses, including the YF and measles virus vaccine strains, in the absence or presence of exogenous type I IFN. The patients' fibroblast phenotypes are rescued with WT IFNAR1 Autosomal recessive, complete IFNAR1 deficiency can result in life-threatening complications of vaccination with live attenuated measles and YF viruses in previously healthy individuals

Severe Combined Immunodeficiency in Brazil: Management, Prognosis, and BCG-Associated Complications

Background: Severe combined immunodeficiency (SCID) is one of the most severe forms of primary immunodeficiency. The objectives of this study were to analyze the diagnosis, treatment, and prognosis of SCID in Brazil and to document the impact of BCG vaccine.Methods: We actively searched for cases by contacting all Brazilian referral centers.Results: We contacted 23 centers and 70 patients from 65 families. Patients were born between 1996 and 2011, and 49 (70%) were male. More than half (39) of the diagnoses were made after 2006. Mean age at diagnosis declined from 9.7 to 6.1 months (P=.058) before and after 2000, respectively, and mean delay in diagnosis decreased from 7.9 to 4.2 months (P=.009). Most patients (60/70) were vaccinated with BCG before the diagnosis, 39 of 60 (65%) had complications related to BCG vaccine, and the complication was disseminated in 29 of 39 (74.3%). Less than half of the patients (30, 42.9%) underwent hematopoietic stem cell transplantation (HSCT). Half of the patients died (35, 50%), and 23 of these patients had not undergone HSCT. Disseminated BCG was the cause of death, either alone or in association with other causes, in 9 of 31 cases (29%, no data for 4 cases).Conclusions: In Brazil, diagnosis of SCID has improved over the last decade, both in terms of the number of cases and age at diagnosis, although a much higher number of cases had been expected. Mortality is higher than in developed countries. Complications of BCG vaccine are an important warning sign for the presence of SCID and account for significant morbidity during disease progression.Jeffrey Modell FoundationUniv Fed Sao Paulo, Dept Pediat, Sao Paulo, BrazilUniv Fed Parana, Bone Marrow Transplant Unit, BR-80060000 Curitiba, Parana, BrazilUniv Fed Bahia, BR-41170290 Salvador, BA, BrazilUniv Sao Paulo, Inst Biomed Sci, Sao Paulo, BrazilPontifical Catholic Univ Goias, Goiania, Go, BrazilUniv Fed Minas Gerais, Belo Horizonte, MG, BrazilDiadema Hosp, Sao Paulo, BrazilUniv Fed Rio Grande do Norte, BR-59072970 Natal, RN, BrazilAlbert Einstein Hosp, Sao Paulo, BrazilPrivate Off, Macapa, Amapa, BrazilUniv Fed Rio de Janeiro, Rio De Janeiro, BrazilUniv Sao Paulo, Dept Dermatol, Sao Paulo, BrazilFac Med ABC, Santo Andre, BrazilDarcy Vargas Childrens Hosp, Sao Paulo, BrazilVidas Hosp, Sao Paulo, BrazilAsa Sul Reg Hosp, Brasilia, DF, BrazilMenino Jesus Hosp, Sao Paulo, BrazilUniv Passo Fundo, Casca, RS, BrazilUniv Sao Paulo, Fac Med Ribeirao Preto, Sao Paulo, BrazilCtr Univ Lusiada, Sch Med, Sao Paulo, BrazilUniv Fed Sao Paulo, GRAAC, Inst Pediat Oncol, Sao Paulo, BrazilBase Hosp, Brasilia, DF, BrazilS Jose do Rio Preto Med Sch, Sao Paulo, BrazilUniv Estadual Campinas, Fac Med Sci, Sao Paulo, BrazilUniv Fed Sao Paulo, Dept Pediat, Sao Paulo, BrazilUniv Fed Sao Paulo, GRAAC, Inst Pediat Oncol, Sao Paulo, BrazilWeb of Scienc

First report of the Hyper-IgM Syndrome registry of the Latin American Society for Immunodeficiencies: novel mutations, unique infections, and outcomes

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 areas342146156FUNDAÇÃO DE AMPARO À PESQUISA DO ESTADO DE SÃO PAULO - FAPESP2012/50515-4; 2006/57643-7; 2012/51745-3Jeffrey Modell Foundation; Latin American Advisory Board on Primary Immunodeficiencies initiativ

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

Doctors' awareness concerning primary immunodeficiencies in Brazil

Background: PIDs are a heterogeneous group of genetic illnesses, and delay in their diagnosis is thought to be caused by a lack of awareness among physicians concerning PIDs. the latter is what we aimed to evaluate in Brazil.Methods: Physicians working at general hospitals all over the country were asked to complete a 14-item questionnaire. One of the questions described 25 clinical situations that could be associated with PIDs and a score was created based on percentages of appropriate answers.Results: A total of 4026 physicians participated in the study: 1628 paediatricians (40.4%), 1436 clinicians (35.7%), and 962 surgeons (23.9%). About 67% of the physicians had learned about PIDs in medical school or residency training, 84.6% evaluated patients who frequently took antibiotics, but only 40.3% of them participated in the immunological evaluation of these patients. Seventy-seven percent of the participating physicians were not familiar with the warning signs for PIDs. the mean score of correct answers for the 25 clinical situations was 48.08% (+/- 16.06). Only 18.3% of the paediatricians, 7.4% of the clinicians, and 5.8% of the surgeons answered at least 2/3 of these situations appropriately.Conclusions: There is a lack of medical awareness concerning PIDs, even among paediatricians, who have been targeted with PID educational programmes in recent years in Brazil. An increase in awareness with regard to these disorders within the medical community is an important step towards improving recognition and treatment of PIDs. (C) 2014 SEICAP. Published by Elsevier Espana, S.L.U. All rights reserved.Jeffrey Modell FoundationBrazilian Jeffrey Modell CentreUniversidade Federal de São Paulo, São Paulo, BrazilUniv Fed Pernambuco, Recife, PE, BrazilUniv Hosp, Brasilia, DF, BrazilChildrens Hosp, Brasilia, DF, BrazilAlbert Sabin Childrens Hosp, Fortaleza, Ceara, BrazilUniv Estadual Montes Claros, Montes Claros, BrazilUniv Fed Parana, BR-80060000 Curitiba, Parana, BrazilUniv São Paulo, Fac Med Ribeirao Preto, BR-14049 Ribeirao Preto, BrazilFac Med Sao Jose Rio Preto, Sao Jose Do Rio Preto, BrazilUniv Hosp Sao Vicente Paulo, Passo Fundo, BrazilJoana Gusmao Childrens Hosp, Florianopolis, SC, BrazilUniv Hosp Muller, Fac Med, Cuiaba, BrazilUniv Fed Mato Grosso, Cuiaba, BrazilNipo Brasileiro Hosp, São Paulo, BrazilHosp lsraelita Albert Einstein, São Paulo, BrazilUniv Fed Rio Grande do Norte, Natal, RN, BrazilUniv Fed Uberlandia, BR-38400 Uberlandia, MG, BrazilUniv Fed Bahia, Complexo Hosp Univ Prof Edgar Santos, Salvador, BA, BrazilUniv Estadual Piaui, Teresina, BrazilABC, Fac Med, Santo Andre, BrazilUniv Fed Minas Gerais, Belo Horizonte, MG, BrazilUniv Ctr Para, Belem, Para, BrazilMed Course Lusiada Univ Ctr UNILUS, Dept Pediat, Santos, BrazilUniv Fed Sergipe, Aracaju, BrazilHosp Servidor Publ Municipal, São Paulo, BrazilUniv São Paulo, Inst Biomed Sci, BR-05508 São Paulo, BrazilUniv Estadual Campinas, Sch Med, Dept Pediat, Campinas, BrazilPrivate Off, Macapa, BrazilHosp Ministro Costa Cavalcanti, Foz Do Iguacu, BrazilChildrens Hosp Cosme & Damitio, Rondonia, BrazilUniv Fed Rio de Janeiro, Rio de Janeiro, BrazilUniversidade Federal de São Paulo, São Paulo, BrazilWeb of Scienc