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Severe combined immunodeficiency, SCID, is a pediatric emergency that represents the most critical group of inborn errors of immunity (IEI). Affected infants present with early onset life-threatening infections due to absent or non-functional T cells. Without early diagnosis and curative treatment, most die in early infancy. As most affected infants appear healthy at birth, newborn screening (NBS) is essential to identify and treat patients before the onset of symptoms. Here, we report 47 Brazilian patients investigated between 2009 and 2020 for SCID due to either a positive family history and/or clinical impression and low TRECs. Based on clinical presentation, laboratory finding, and genetic information, 24 patients were diagnosed as typical SCID, 14 as leaky SCID, and 6 as Omenn syndrome; 2 patients had non-SCID IEI, and 1 remained undefined. Disease onset median age was 2 months, but at the time of diagnosis and treatment, median ages were 6.5 and 11.5 months, respectively, revealing considerable delay which affected negatively treatment success. While overall survival was 51.1%, only 66.7% (30/45) lived long enough to undergo hematopoietic stem-cell transplantation, which was successful in 70% of cases. Forty-three of 47 (91.5%) patients underwent genetic testing, with a 65.1% success rate. Even though our patients did not come from the NBS programs, the diagnosis of SCID improved in Brazil during the pilot programs, likely due to improved medical education. However, we estimate that at least 80% of SCID cases are still missed. NBS-SCID started to be universally implemented in the city of São Paulo in May 2021, and it is our hope that other cities will follow, leading to early diagnosis and higher survival of SCID patients in Brazil.

During the SARS-CoV-2 pandemic, most clinical reports about COVID-19 manifestations and risk factors have been focused on adults, while data on children are relatively limited. COVID-19 mortality in children is considerably lower than in adults and children are considered at lower-risk for severe respiratory manifestations of the disease.

Klebsiella pneumoniae has emerged as an important nosocomial pathogen, with whole-genome sequencing (WGS) significantly improving our ability to characterize associated outbreaks. Our study sought to perform a genome-wide analysis of multiclonal K. pneumoniae isolates (n=39; 23 patients) producing extended spectrum beta-lactamases and/or carbapenemases sourced between 2011 and 2016 in a Portuguese tertiary-care hospital. All isolates showed resistance to third-generation cephalosporins and six isolates (five patients) were also carbapenem resistant. Genome-wide-based phylogenetic analysis revealed a topology representing ongoing dissemination of three main sequence-type (ST) clades (ST15, ST147 and ST307) and transmission across different wards, compatible with missing links that can take the form of undetected colonized patients. Two carbapenemase-coding genes were detected: blaKPC-3 , located on a Tn4401d transposon, and blaGES-5 on a novel class 3 integron. Additionally, four genes coding for ESBLs (blaBEL-1 , blaCTX-M-8 , blaCTX-M-15 and blaCTX-M-32 ) were also detected. ESBL horizontal dissemination across five clades is highlighted by the similar genetic environments of blaCTX-M-15 gene upstream of ISEcp1 on a Tn3-like transposon. Overall, this study provides a high-resolution genome-wide perspective on the epidemiology of ESBL and carbapenemase-producing K. pneumoniae in a healthcare setting while contributing for the adoption of appropriate intervention and prevention strategies.

Hereditary angioedema is an autosomal dominant disease characterized by recurrent angioedema attacks with the involvement of multiple organs. The disease is unknown to many health professionals and is therefore underdiagnosed. Patients who are not adequately diagnosed and treated have an estimated mortality rate ranging from 25% to 40% due to asphyxiation by laryngeal angioedema. Intestinal angioedema is another important and incapacitating presentation that may be the main or only manifestation during an attack. In this article, a group of experts from the “Associação Brasileira de Alergia e Imunologia (ASBAI)” and the “Grupo de Estudos Brasileiro em Angioedema Hereditário (GEBRAEH)” has updated the Brazilian guidelines for the diagnosis and treatment of hereditary angioedema.

Resumo Qualquer reacao prejudicial e nao intencional ocasionada por medicamentos ou drogas sao denomi nadas reacoes adversas a drogas, segundo definicao da Organizacao Mundial da Saude. Elas podem ser previsiveis, se relacionadas a um efeito colateral pela acao farmacologica ou toxica do medicamento, ou imprevisiveis, quando sao reacoes idiossincrasicas ou de hipersensibilidade. Existem muitos exemplos de cada condicao, sendo que muitos deles se manifestam na pele. Em criancas, o diagnostico preciso e um desafio, visto que sao mais susceptiveis do que os adultos a estas reacoes e, ainda, podem ser confundidas com outras doencas tipicas da infância como por exemplo o exantema viral. Entretanto, estas reacoes podem variar em termos de gravidade e o diagnostico preciso e manejo adequado sao fundamentais para um desfecho favoravel. Esta revisao busca descrever as estatisticas, fatores de risco e caracteristicas principais das reacoes alergicas a medicamentos em criancas e os sinais de alerta para maior gravidade.

p. 1627-1636 Submitted by Edileide Reis (leyde-landy@hotmail.com) on 2014-02-19T13:43:29Z No. of bitstreams: 1 Regis A. Campos.pdf: 254414 bytes, checksum: db4489a3c989b1cb781cd78756cb885c (MD5) Approved for entry into archive by Flávia Ferreira (flaviaccf@yahoo.com.br) on 2015-10-13T12:28:26Z (GMT) No. of bitstreams: 1 Regis A. Campos.pdf: 254414 bytes, checksum: db4489a3c989b1cb781cd78756cb885c (MD5) Made available in DSpace on 2015-10-13T12:28:26Z (GMT). No. of bitstreams: 1 Regis A. Campos.pdf: 254414 bytes, checksum: db4489a3c989b1cb781cd78756cb885c (MD5) Previous issue date: 2011 Hereditary angioedema is an autosomal dominant disease characterized by edema attacks with multiple organ involvement. It is caused by a quantitative or functional deficiency of the C1 inhibitor, which is a member of the serine protease inhibitor family. Hereditary angioedema is unknown to many health professionals and is therefore an underdiagnosed disease. The causes of death from hereditary angioedema include laryngeal edema with asphyxia. The estimated mortality rate in patients in whom the disease goes undetected and who are therefore incorrectly treated is 25-40%. In addition to edema of the glottis, hereditary angioedema often results in edema of the gastrointestinal tract, which can be incapacitating. Patients with hereditary angioedema may undergo unnecessary surgical interventions because the digestive tract can be the primary or only organ system involved, thus mimicking acute surgical abdomen. It is estimated that patients with hereditary angioedema experience some degree of disability 20-100 days per year. The Experts in Clinical Immunology and Allergy of the "Associação Brasileira de Alergia e Imunopatologia -ASBAI" developed these guidelines for the diagnosis, therapy, and management of hereditary angioedema.

Methods A total of 59 cases were included in this study. Among those, 44 ( 74,5 %) had suggestive clinical history for latex allergy (SCHLA), and were submitted to latex skin prick test (SPT) and serum latex specific IgE test (sIgE– Immulite/Siemens) ; and 15 ( 25,5%) were healthy subjects, wich were considered negative controls for the diagnostic procedure. All the cases were submitted to LUT according to the service’s protocol.

Methods Retrospective analysis of contact test results, performed with the standard contact test batteries (30 substances) and cosmetics (10 substances) in patients with cutaneous symptoms suggestive of contact dermatitis obtained through database division of Allergy and Immunology of the HSPEIAMSPE in the period January to December 2013. The contact test is recommended by Brazilian Study Group Contact Dermatitis (GBEDC). It was performed reading after 48 and 96 hours, as international criteria Contact Dermatitis Reserch Group (ICDRG,). Statistical analysis by the test of equality of proportions.

Objective To describe the cases of severe cutaneus drug reactions reported in patients admitted to a hospital in São Paulo, assisted by the Service of Allergy and Immunology. Methods A case serie study based on record's analysis of patients who were hospitalized from January 2002 to June 2011 evaluated by the allergist. Results We evaluated 25 cases of severe drug reactions, among which 13 (52%) were Drug Rash with Eosinophilia and Systemic Symptoms (DRESS), 7 (29.4%) Stevens-Johnson syndrome (SJS), 4 (16) Toxic Epidermal Necrolysis (TEN) and 1 (4%) Acute Generalized Exanthematous Pustulosis (PEGA). The patients' ages ranged from 5 to 77 years (median = 37), 13 (52%) were male. The drug classes more closely related were antibiotics 18 (45%), non-steroidal anti-inflammatory 12 (30%) and anticonvulsants 9 (25%). The mean length of hospital stay was 15 days. Systemic involvement occurred in 15 (60%) patients, of whom 15 (100%) liver involvement, 5 (33%) kidney, 2 (13%) pancreatic and 1 (6%) thyroid. There was mucosal involvement in 12 (80%) cases. Three patients (12%) had septicemia, which led to mortality. All of them had TEN with extensive cutaneus involvement. Other patients presented sequelae in the skin (4–16%) and in the eyes (5–20%). Other complications observed were: cholestatic syndrome, immunodeficiency and autoimunidade, each of them in one patient. Conclusion In this serie of cases, DRESS was the most frequent disease and antibiotics were the drugs most commonly implicated. The average hospital stay was prolonged. Liver involvement was the main systemic commitment. TEN was responsible for the major mortality rate.

Background Ten-to-twenty percent of hospitalized patients experience drug adverse reactions. There are few epidemiological data of drug hypersensitivity in inpatients in brazilian population. Our aim was to analyze the main clinical and epidemiological data of drug hypersensitivity reactions in hospitalized patients and to assess the importance of the allergist's evaluation. Methods A prospective study was developed in an Allergy Clinic of a Service in São Paulo, Brazil, from January 2010 to January 2011. We evaluated the cases in which the allergist was assessed. The patients were studied based on history of hypersensitivity reactions to drugs (HRD) using an adapted ENDA (European Network of Drug Allergy) questionnaire. We analyzed clinical and epidemiological data of drug hypersensitivity reactions and assessed differences of the allergist evaluation. Results Of all 80 cases in which the allergist was assessed, 65 (81%) were for HRD. The mean age was 57 years, 49 (75%) were women. Fifty (89%) experienced non-immediate reactions, 8 of them were severe adverse cutaneous reactions. Eight (12%) had just positive history of HRD, without reaction at the time of the evaluation. Neurosurgery (15), Infectious Diseases (11), Vascular surgery (8) were the main Clinics who assessed our specialty. Non-steroidal anti-inflammatory drugs (21), antiepileptics (16) and non-β-lactams antibiotics (15) were the most important pharmacological groups. Thirty (46%) patients were in use of more than 5 drugs at the time of the reaction, but in 46 (70%) evaluations there was 01 culprit drug suspected by the allergist. There was discordance between the allergist and the non-allergist opinion about the suspected drug in 13 (20%) cases. In 50% of cases other Clinics were assessed for the same reason. Eleven (17%) patients had history of HRD with the same pharmacological group before. Conclusions HRD is the main cause why the allergist is assessed. The pharmacological groups related to these HRD were different from the previously described. The history of HRD is still not appropriate asked from the non-allergists. The evaluation of the allergist can help to manage HRD properly.

Background Angioedema is defined as delimited edema that compromises dermis and subcutaneous. May have different causes hypersensitivity, autoimmune, idiopathic, physical factors, angiotensin-converting enzyme inhibitors and C1 esterase inhibitor consumption or disability. The physiopathologic mechanisms depend on the cause. In addition to detailed history, additional tests are needed for targeting of etiology. Our Objective was evaluate the profile of patients treated in outpatient Angioedema Allergy and Immunology HSPE.