ANTONIO CARLOS Pastorino - Academia.edu (original) (raw)

Papers by ANTONIO CARLOS Pastorino

Research paper thumbnail of Autoimmune diseases and autoantibodies in pediatric patients and their first-degree relatives with immunoglobulin A deficiency

Revista brasileira de reumatologia, May 1, 2015

Introduction: Clinical manifestations of Immunoglobulin A Deficiency (IgAD) include recurrent inf... more Introduction: Clinical manifestations of Immunoglobulin A Deficiency (IgAD) include recurrent infections, atopy and autoimmune diseases. However, to our knowledge, the concomitant evaluations of autoimmune diseases and auto antibodies in a cohort of IgAD patients with current age >10 years and their relatives have not been assessed. Objectives: To evaluate autoimmune diseases and the presence of auto antibodies in IgAD patients and their first-degree relatives. Methods: A cross-sectional study was performed in 34 IgAD patients (current age >10 years) and their first-degree relatives. All of them were followed at a tertiary Brazilian primary immunodeficiency center: 27 children/adolescents and 7 of their first-degree relatives with a late diagnosis of IgAD. Autoimmune diseases and autoantibodies (antinuclear antibodies, rheumatoid factor, and anti-thyroglobulin, anti-thyroperoxidase and IgA class anti-endomysial antibodies) were also assessed. Results: Autoimmune diseases (n = 14) and/or autoantibodies (n = 10, four of them with isolated autoantibodies) were observed in 18/34 (53%) of the patients and their relatives. The most common autoimmune diseases found were thyroiditis (18%), chronic arthritis (12%) and celiac disease (6%). The most frequent autoantibodies were antinuclear antibodies (2%), anti-thyroglobulin and/or anti-thyroperoxidase (24%). No significant differences were observed in the female gender, age at diagnosis and current age in IgAD patients with and without autoimmune diseases and/or presence of auto antibodies (p > 0.05). The frequencies of primary immunodeficiencies in family, autoimmunity in family, atopy and recurrent infections were similar in both groups (p > 0.05). Conclusion: Autoimmune diseases and auto antibodies were observed in IgAD patients during follow-up, reinforcing the necessity of a rigorous and continuous follow-up during adolescence and adulthood.

Research paper thumbnail of Chédiak-Higashi syndrome: Experience from a brazilian reference center for primary immunodeficiency

Journal of Clinical Immunology, 2014

Research paper thumbnail of Fatores associados ao controle da asma em pacientes pediátricos em centro de referência

Revista Paulista De Pediatria, Dec 1, 2011

Objective: To describe the epidemiological and clinical data and factors associated with asthma c... more Objective: To describe the epidemiological and clinical data and factors associated with asthma control of asthmatic patients followed at a pediatric reference center. Methods: Cross-sectional study including asthmatic outpatients receiving prophylactic medications from the institution. For classification of asthma, steps of treatment and control evaluation, the IV Brazilian Guidelines for the Management of Asthma (2006) were adopted. The presence of other allergies, obesity, immunodeficiency, gastroesophageal reflux and allergic sensitization were evaluated and compared between patients with or without asthma Endereço para correspondência

Research paper thumbnail of Dermatite atópica grave: guia prático de tratamento da Associação Brasileira de Alergia e Imunologia e Sociedade Brasileira de Pediatria

Arquivos de Asmas Alergia e Imunologia

Atopic dermatitis is a chronic, common, and complex inflammatory skin disease with a multifactori... more Atopic dermatitis is a chronic, common, and complex inflammatory skin disease with a multifactorial etiology. It manifests clinically with often disabling pruritus, recurrent eczema-like lesions, and xerosis, and can progress to lichenification. Although understanding of the disease’s pathophysiology has been growing in recent years, severe forms are still frequent and represent a challenge for clinicians. A non-systematic review of the literature on severe atopic dermatitis refractory to conventional treatment was conducted to develop the present guide, whose purpose is to help clarify the mechanisms involved in the disease and possible risk factors. The integrity of the skin barrier is fundamental for maintaining skin homeostasis. In addition to general care, patients should avoid triggering and/or irritating agents and moisturizers and seek emotional support, etc.; the use of topical and/or systemic anti-inflammatory/immunosuppressive agents was also reviewed. New agents, immunobiologicals, and small molecules have led to a broader range of therapies for patients with severe forms of the disease, especially cases refractory to conventional treatment.

Research paper thumbnail of Idiopathic musculoskeletal pain, musculoskeletal pain syndromes, and use of electronic devices in adolescents with asthma

Jornal de Pediatria

OBJECTIVE To evaluate idiopathic musculoskeletal pain, musculoskeletal pain syndromes, and use of... more OBJECTIVE To evaluate idiopathic musculoskeletal pain, musculoskeletal pain syndromes, and use of electronic devices in adolescents with asthma and healthy controls. METHODS Cross-sectional study was conducted on 150 asthmatic adolescents and 300 controls. Adolescents completed a self-administered questionnaire regarding painful symptoms, use of electronic devices, and physical activity. Seven musculoskeletal pain syndromes were evaluated, and Asthma Control Test (ACT) was assessed. RESULTS Musculoskeletal pain (42% vs. 61%, p = 0.0002) and musculoskeletal pain syndromes (2.7% vs. 15.7%, p = 0.0006) were significantly lower in asthmatic adolescents than in controls. The frequency of pain in the hands and wrists was reduced in asthmatic than in controls (12.6% vs. 31.1%, p = 0.004), in addition to cell phone use (80% vs. 93%, p < 0.0001), simultaneous use of at least two electronic media (47% vs. 91%, p < 0.0001), myofascial syndrome (0% vs. 7.1%, p = 0.043), and tendinitis (0% vs. 9.2%, p = 0.008). Logistic regression analysis, including asthma with musculoskeletal pain as the dependent variable, and female sex, ACT > 20, simultaneous use of at least two electronic devices, cell phone use, and weekends and weekdays of cell phone use, as independent variables, showed that female sex (odds ratio [OR], 2.06; 95% confidence interval [CI], 1.929-6.316; p = 0.0009) and ACT ≥ 20 (OR, 0.194; 95% CI, 0.039-0.967; p = 0.045) were associated with asthma and musculoskeletal pain (Nagelkerke R2 = 0.206). CONCLUSIONS Musculoskeletal pain and musculoskeletal pain syndromes were lower in adolescents with asthma. Female sex was associated with musculoskeletal pain in asthmatic, whereas patients with asthma symptoms and well-controlled disease reported a lower prevalence of musculoskeletal pain.

Research paper thumbnail of Aspectos clínicos e laboratoriais de sete pacientes com candidiase mucocutânea crônica

Revista Paulista De Pediatria, 1998

Research paper thumbnail of Guia Prático de Atualização no tratamento da exacerbação de asma na criança e no adolescente

Arquivos de Asmas Alergia e Imunologia, 2021

Research paper thumbnail of Atualização em anafilaxia: diagnóstico Update in anaphylaxis: diagnosis

Revista da Associação Médica Brasileira, 2013

Research paper thumbnail of Diretrizes da Associação Brasileira de Alergia e Imunologia e Sociedade Brasileira de Pediatria para sibilância e asma no pré-escolar

Arquivos de Asma, Alergia e Imunologia, 2018

Research paper thumbnail of Pediatric and adult primary immunodeficiency diseases in a single tertiary university hospital in São Paulo, Brazil

Research paper thumbnail of Guidelines in focus Anaphylaxis : diagnosis Authorship

Description of the method for collecting evidence In order to elaborate this guideline, the follo... more Description of the method for collecting evidence In order to elaborate this guideline, the following primary and secondary electronic databases were consulted: MEDLINE, Cochrane, Central Register of Controlled Trials – CENTRAL, Embase, and Lilacs. The search for evidence was based on real clinical settings, MeSH terms/descriptors and the following isolated terms were used: Anaphylaxis; Allergens; Anaphylatoxins; Mast Cells; Adult; Chymases; Serine Endopeptidases. The articles were selected after critical evaluation of scientific evidence strength by specialists from the participant societies, and the best publications were used for the recommendations. Recommendations were elaborated after a discussion within the group. The entire guideline was reviewed by an independent group specialized in evidencebased clinical guidelines.

Research paper thumbnail of Novel FERMT3 and PTPRQ Mutations Associated with Leukocyte Adhesion Deficiency-III and Sensorineural Hearing Loss

Journal of Pediatric Genetics, 2021

Leukocyte adhesion deficiency-III (LAD-III) is a rare genetic disease caused by defective integri... more Leukocyte adhesion deficiency-III (LAD-III) is a rare genetic disease caused by defective integrin activation in hematopoietic cells due to mutations in the FERMT3 gene. The PTPRQ gene encodes the protein tyrosine phosphatase receptor Q and is essential for the normal maturation and function of hair bundle in the cochlea. Homozygous PTPRQ mutations impair the stereocilia in hair cells which lead to nonsyndromic sensorineural hearing loss (SNHL) with vestibular dysfunction. Here, we report two novel pathogenic homozygous mutations found in two genes, FERMT3 and PTPRQ, in a Brazilian patient with LAD-III and SNHL, which may develop our understanding of the phenotype–genotype correlation and prognosis of patients with these rare diseases.

Research paper thumbnail of Guia prático de aerossolterapia na criança e no adolescente: Documento conjunto da Associação Brasileira de Alergia e Imunologia e Sociedade Brasileira de Pediatria

Research paper thumbnail of Author response for "Inflammatory Manifestations in Children with Chronic Granulomatous Disease

Applied Immunohistochemistry & Molecular Morphology, 2021

Research paper thumbnail of Anaphylaxis: practical guide for management

Anaphylaxis is one of the most dramatic clinical conditions of medical emergency. Because of both... more Anaphylaxis is one of the most dramatic clinical conditions of medical emergency. Because of both its unpredictable emergence and potential severity, anaphylaxis has a major impact on the quality of life of those affected by it, their families and bystanders. The most frequent cause of anaphylaxis are drugs, foods, and stinging insect venoms. The study and assessment of anaphylaxis cases has always been a concern of the speciality of Allergy and Clinical Immunology. Everyday in the allergology outpatient units people present with history of acute allergic reactions needing expert guidance. It is not uncommon to learn that some of them have experienced repeated reactions and were not told to look for expert care. Each crisis represents a risk, which is variable depending on the patient characteristics and the triggering agent. The lack of information contributes to increase the likelihood of

Research paper thumbnail of Chediak–Higashi syndrome: Lessons from a single-centre case series

Allergologia et Immunopathologia, 2019

Background: Chediak-Higashi syndrome (CHS) is a rare and potentially fatal autosomal recessive di... more Background: Chediak-Higashi syndrome (CHS) is a rare and potentially fatal autosomal recessive disease characterized by frequent bacterial infections, bleeding tendency, oculocutaneous albinism, photosensitivity and progressive neurologic dysfunction. Owing to the rarity of this condition, the objective of this study was to describe patients with CHS. Methods: Retrospective evaluation of patients followed in a paediatric tertiary centre of Allergy and Immunology of São Paulo, Brazil, between 1986 and 2018 with a confirmed diagnosis of CHS. Data were obtained from medical records. Demographic aspects, family history, clinical findings, laboratory data, diagnosis, treatment and outcome were described. Results: A total of 14 patients (five male) were included. Clinical manifestations were first recognized at a median age of two months (at birth-20 months). Median age at diagnosis was 1.7 years (0-5 years). All patients had recurrent infections. Albinism was present in 13 patients and silvery or light hair was present in 14. Seven patients developed hemophagocytic lymphohistiocytosis (HLH); the median age at the diagnosis of HLH was 5.7 years (2.6-6.7 years) and the median interval between the diagnosis of CHS and HLH was 3.3 years (0-5 years). Four of the most recently diagnosed patients underwent bone marrow transplantation (BMT). Nine patients are deceased, and one was lost to follow-up. The median age of death was 6.7 years (3.8-22 years). Five patients died of HLH, one of lymphoma, and three of infection. All the patients who had HLH before the year of 2000 died of HLH. The two most recently diagnosed patients with HLH were able to cure the HLH, although they died of other causes. Four patients are alive, three of them after successful BMT.

Research paper thumbnail of Phadiatop, Phadiatop Infant and total IgE evaluated in allergic Brazilian children and adolescents

Allergologia et Immunopathologia, 2019

The clinical history is of importance in the investigation of allergic diseases but does have lim... more The clinical history is of importance in the investigation of allergic diseases but does have limitations. Many allergic conditions will be over-diagnosed if anamnesis alone is used for diagnostic criteria. Serum total immunoglobulin E (TIgE) quantification, as well as panels containing allergens prevalent in the studied population, may serve as screening tests and facilitate the diagnosis of allergic disease or its exclusion. We assessed the positivity of two versions of these tests, Phadiatop Europe ® (PhEU) and Phadiatop Infant ® (PhInf), as well as total IgE (TigE) values in patients with a medical diagnosis of allergic disease and non-allergic individuals. Methods: A cross-sectional study performed in eleven Brazilian pediatric allergy centers with patients divided into groups according to the primary condition and a group of assessed control subjects. They were submitted to TIgE measurement and screening tests (PhEu and PhInf).

Research paper thumbnail of Primary immunodeficiency with chronic enteropathy and developmental delay in a boy arising from a novel homozygous RIPK1 variant

Journal of Human Genetics, 2019

Identification of genetic causes of primary monogenic immunodeficiencies would strengthen the cur... more Identification of genetic causes of primary monogenic immunodeficiencies would strengthen the current understanding of their immunopathology. Pathogenic variants in genes in association with tumor necrosis factor α (TNFα) signaling, including OTULIN, TNFAIP3, RBCK1, and RNF31 cause human congenital autoinflammatory diseases with/without immunodeficiency. RIPK1, encoding a receptor interacting serine/threonine kinase 1, is present in protein complexes mediating signal transduction including TNF receptor 1. Biallelic loss-of-function variants in RIPK1 were recently reported in individuals with primary immunodeficiency with intestinal bowel disease and arthritis. Here, we report a novel homozygous RIPK1 variant in a boy with immunodeficiency and chronic enteropathy. Our patient exhibited severe motor delay and mild intellectual disability, which were previously unknown. The present results are expected to deepen the current understanding of clinical features based on RIPK1 abnormalities.

Research paper thumbnail of Baked milk tolerant patient: Is there any special feature?

Allergologia et immunopathologia, 2017

Determining whether patients with cow's milk allergy (CMA) can tolerate foods produced with b... more Determining whether patients with cow's milk allergy (CMA) can tolerate foods produced with baked milk could provide a better quality of life, a better prognosis, and an option for desensitization. The aim of this study was to identify which patients over four years of age with persistent CMA could tolerate baked milk, to compare the clinical and laboratory characteristics of reactive and non-reactive groups and to describe their clinical evolution. A cross-sectional study was conducted (January/13 to November/14) that included all the patients followed at a food allergy center who met the inclusion criteria. The patients underwent an oral food challenge (OFC) with a muffin (2.8g of cow's milk protein). To exclude cow's milk (CM) tolerance, the patients were subsequently challenged with unheated CM. Thirty patients met all the inclusion criteria. Fourteen patients (46.7%) were considered non-reactive to baked milk and reactive to unheated CM. When the groups that were re...

Research paper thumbnail of Nasofibroscopia para o diagnóstico dos agravos da rinite alérgica em crianças e adolescentes

Rev Bras Alergia Imunopatol, Dec 1, 2001

Research paper thumbnail of Autoimmune diseases and autoantibodies in pediatric patients and their first-degree relatives with immunoglobulin A deficiency

Revista brasileira de reumatologia, May 1, 2015

Introduction: Clinical manifestations of Immunoglobulin A Deficiency (IgAD) include recurrent inf... more Introduction: Clinical manifestations of Immunoglobulin A Deficiency (IgAD) include recurrent infections, atopy and autoimmune diseases. However, to our knowledge, the concomitant evaluations of autoimmune diseases and auto antibodies in a cohort of IgAD patients with current age >10 years and their relatives have not been assessed. Objectives: To evaluate autoimmune diseases and the presence of auto antibodies in IgAD patients and their first-degree relatives. Methods: A cross-sectional study was performed in 34 IgAD patients (current age >10 years) and their first-degree relatives. All of them were followed at a tertiary Brazilian primary immunodeficiency center: 27 children/adolescents and 7 of their first-degree relatives with a late diagnosis of IgAD. Autoimmune diseases and autoantibodies (antinuclear antibodies, rheumatoid factor, and anti-thyroglobulin, anti-thyroperoxidase and IgA class anti-endomysial antibodies) were also assessed. Results: Autoimmune diseases (n = 14) and/or autoantibodies (n = 10, four of them with isolated autoantibodies) were observed in 18/34 (53%) of the patients and their relatives. The most common autoimmune diseases found were thyroiditis (18%), chronic arthritis (12%) and celiac disease (6%). The most frequent autoantibodies were antinuclear antibodies (2%), anti-thyroglobulin and/or anti-thyroperoxidase (24%). No significant differences were observed in the female gender, age at diagnosis and current age in IgAD patients with and without autoimmune diseases and/or presence of auto antibodies (p > 0.05). The frequencies of primary immunodeficiencies in family, autoimmunity in family, atopy and recurrent infections were similar in both groups (p > 0.05). Conclusion: Autoimmune diseases and auto antibodies were observed in IgAD patients during follow-up, reinforcing the necessity of a rigorous and continuous follow-up during adolescence and adulthood.

Research paper thumbnail of Chédiak-Higashi syndrome: Experience from a brazilian reference center for primary immunodeficiency

Journal of Clinical Immunology, 2014

Research paper thumbnail of Fatores associados ao controle da asma em pacientes pediátricos em centro de referência

Revista Paulista De Pediatria, Dec 1, 2011

Objective: To describe the epidemiological and clinical data and factors associated with asthma c... more Objective: To describe the epidemiological and clinical data and factors associated with asthma control of asthmatic patients followed at a pediatric reference center. Methods: Cross-sectional study including asthmatic outpatients receiving prophylactic medications from the institution. For classification of asthma, steps of treatment and control evaluation, the IV Brazilian Guidelines for the Management of Asthma (2006) were adopted. The presence of other allergies, obesity, immunodeficiency, gastroesophageal reflux and allergic sensitization were evaluated and compared between patients with or without asthma Endereço para correspondência

Research paper thumbnail of Dermatite atópica grave: guia prático de tratamento da Associação Brasileira de Alergia e Imunologia e Sociedade Brasileira de Pediatria

Arquivos de Asmas Alergia e Imunologia

Atopic dermatitis is a chronic, common, and complex inflammatory skin disease with a multifactori... more Atopic dermatitis is a chronic, common, and complex inflammatory skin disease with a multifactorial etiology. It manifests clinically with often disabling pruritus, recurrent eczema-like lesions, and xerosis, and can progress to lichenification. Although understanding of the disease’s pathophysiology has been growing in recent years, severe forms are still frequent and represent a challenge for clinicians. A non-systematic review of the literature on severe atopic dermatitis refractory to conventional treatment was conducted to develop the present guide, whose purpose is to help clarify the mechanisms involved in the disease and possible risk factors. The integrity of the skin barrier is fundamental for maintaining skin homeostasis. In addition to general care, patients should avoid triggering and/or irritating agents and moisturizers and seek emotional support, etc.; the use of topical and/or systemic anti-inflammatory/immunosuppressive agents was also reviewed. New agents, immunobiologicals, and small molecules have led to a broader range of therapies for patients with severe forms of the disease, especially cases refractory to conventional treatment.

Research paper thumbnail of Idiopathic musculoskeletal pain, musculoskeletal pain syndromes, and use of electronic devices in adolescents with asthma

Jornal de Pediatria

OBJECTIVE To evaluate idiopathic musculoskeletal pain, musculoskeletal pain syndromes, and use of... more OBJECTIVE To evaluate idiopathic musculoskeletal pain, musculoskeletal pain syndromes, and use of electronic devices in adolescents with asthma and healthy controls. METHODS Cross-sectional study was conducted on 150 asthmatic adolescents and 300 controls. Adolescents completed a self-administered questionnaire regarding painful symptoms, use of electronic devices, and physical activity. Seven musculoskeletal pain syndromes were evaluated, and Asthma Control Test (ACT) was assessed. RESULTS Musculoskeletal pain (42% vs. 61%, p = 0.0002) and musculoskeletal pain syndromes (2.7% vs. 15.7%, p = 0.0006) were significantly lower in asthmatic adolescents than in controls. The frequency of pain in the hands and wrists was reduced in asthmatic than in controls (12.6% vs. 31.1%, p = 0.004), in addition to cell phone use (80% vs. 93%, p < 0.0001), simultaneous use of at least two electronic media (47% vs. 91%, p < 0.0001), myofascial syndrome (0% vs. 7.1%, p = 0.043), and tendinitis (0% vs. 9.2%, p = 0.008). Logistic regression analysis, including asthma with musculoskeletal pain as the dependent variable, and female sex, ACT > 20, simultaneous use of at least two electronic devices, cell phone use, and weekends and weekdays of cell phone use, as independent variables, showed that female sex (odds ratio [OR], 2.06; 95% confidence interval [CI], 1.929-6.316; p = 0.0009) and ACT ≥ 20 (OR, 0.194; 95% CI, 0.039-0.967; p = 0.045) were associated with asthma and musculoskeletal pain (Nagelkerke R2 = 0.206). CONCLUSIONS Musculoskeletal pain and musculoskeletal pain syndromes were lower in adolescents with asthma. Female sex was associated with musculoskeletal pain in asthmatic, whereas patients with asthma symptoms and well-controlled disease reported a lower prevalence of musculoskeletal pain.

Research paper thumbnail of Aspectos clínicos e laboratoriais de sete pacientes com candidiase mucocutânea crônica

Revista Paulista De Pediatria, 1998

Research paper thumbnail of Guia Prático de Atualização no tratamento da exacerbação de asma na criança e no adolescente

Arquivos de Asmas Alergia e Imunologia, 2021

Research paper thumbnail of Atualização em anafilaxia: diagnóstico Update in anaphylaxis: diagnosis

Revista da Associação Médica Brasileira, 2013

Research paper thumbnail of Diretrizes da Associação Brasileira de Alergia e Imunologia e Sociedade Brasileira de Pediatria para sibilância e asma no pré-escolar

Arquivos de Asma, Alergia e Imunologia, 2018

Research paper thumbnail of Pediatric and adult primary immunodeficiency diseases in a single tertiary university hospital in São Paulo, Brazil

Research paper thumbnail of Guidelines in focus Anaphylaxis : diagnosis Authorship

Description of the method for collecting evidence In order to elaborate this guideline, the follo... more Description of the method for collecting evidence In order to elaborate this guideline, the following primary and secondary electronic databases were consulted: MEDLINE, Cochrane, Central Register of Controlled Trials – CENTRAL, Embase, and Lilacs. The search for evidence was based on real clinical settings, MeSH terms/descriptors and the following isolated terms were used: Anaphylaxis; Allergens; Anaphylatoxins; Mast Cells; Adult; Chymases; Serine Endopeptidases. The articles were selected after critical evaluation of scientific evidence strength by specialists from the participant societies, and the best publications were used for the recommendations. Recommendations were elaborated after a discussion within the group. The entire guideline was reviewed by an independent group specialized in evidencebased clinical guidelines.

Research paper thumbnail of Novel FERMT3 and PTPRQ Mutations Associated with Leukocyte Adhesion Deficiency-III and Sensorineural Hearing Loss

Journal of Pediatric Genetics, 2021

Leukocyte adhesion deficiency-III (LAD-III) is a rare genetic disease caused by defective integri... more Leukocyte adhesion deficiency-III (LAD-III) is a rare genetic disease caused by defective integrin activation in hematopoietic cells due to mutations in the FERMT3 gene. The PTPRQ gene encodes the protein tyrosine phosphatase receptor Q and is essential for the normal maturation and function of hair bundle in the cochlea. Homozygous PTPRQ mutations impair the stereocilia in hair cells which lead to nonsyndromic sensorineural hearing loss (SNHL) with vestibular dysfunction. Here, we report two novel pathogenic homozygous mutations found in two genes, FERMT3 and PTPRQ, in a Brazilian patient with LAD-III and SNHL, which may develop our understanding of the phenotype–genotype correlation and prognosis of patients with these rare diseases.

Research paper thumbnail of Guia prático de aerossolterapia na criança e no adolescente: Documento conjunto da Associação Brasileira de Alergia e Imunologia e Sociedade Brasileira de Pediatria

Research paper thumbnail of Author response for "Inflammatory Manifestations in Children with Chronic Granulomatous Disease

Applied Immunohistochemistry & Molecular Morphology, 2021

Research paper thumbnail of Anaphylaxis: practical guide for management

Anaphylaxis is one of the most dramatic clinical conditions of medical emergency. Because of both... more Anaphylaxis is one of the most dramatic clinical conditions of medical emergency. Because of both its unpredictable emergence and potential severity, anaphylaxis has a major impact on the quality of life of those affected by it, their families and bystanders. The most frequent cause of anaphylaxis are drugs, foods, and stinging insect venoms. The study and assessment of anaphylaxis cases has always been a concern of the speciality of Allergy and Clinical Immunology. Everyday in the allergology outpatient units people present with history of acute allergic reactions needing expert guidance. It is not uncommon to learn that some of them have experienced repeated reactions and were not told to look for expert care. Each crisis represents a risk, which is variable depending on the patient characteristics and the triggering agent. The lack of information contributes to increase the likelihood of

Research paper thumbnail of Chediak–Higashi syndrome: Lessons from a single-centre case series

Allergologia et Immunopathologia, 2019

Background: Chediak-Higashi syndrome (CHS) is a rare and potentially fatal autosomal recessive di... more Background: Chediak-Higashi syndrome (CHS) is a rare and potentially fatal autosomal recessive disease characterized by frequent bacterial infections, bleeding tendency, oculocutaneous albinism, photosensitivity and progressive neurologic dysfunction. Owing to the rarity of this condition, the objective of this study was to describe patients with CHS. Methods: Retrospective evaluation of patients followed in a paediatric tertiary centre of Allergy and Immunology of São Paulo, Brazil, between 1986 and 2018 with a confirmed diagnosis of CHS. Data were obtained from medical records. Demographic aspects, family history, clinical findings, laboratory data, diagnosis, treatment and outcome were described. Results: A total of 14 patients (five male) were included. Clinical manifestations were first recognized at a median age of two months (at birth-20 months). Median age at diagnosis was 1.7 years (0-5 years). All patients had recurrent infections. Albinism was present in 13 patients and silvery or light hair was present in 14. Seven patients developed hemophagocytic lymphohistiocytosis (HLH); the median age at the diagnosis of HLH was 5.7 years (2.6-6.7 years) and the median interval between the diagnosis of CHS and HLH was 3.3 years (0-5 years). Four of the most recently diagnosed patients underwent bone marrow transplantation (BMT). Nine patients are deceased, and one was lost to follow-up. The median age of death was 6.7 years (3.8-22 years). Five patients died of HLH, one of lymphoma, and three of infection. All the patients who had HLH before the year of 2000 died of HLH. The two most recently diagnosed patients with HLH were able to cure the HLH, although they died of other causes. Four patients are alive, three of them after successful BMT.

Research paper thumbnail of Phadiatop, Phadiatop Infant and total IgE evaluated in allergic Brazilian children and adolescents

Allergologia et Immunopathologia, 2019

The clinical history is of importance in the investigation of allergic diseases but does have lim... more The clinical history is of importance in the investigation of allergic diseases but does have limitations. Many allergic conditions will be over-diagnosed if anamnesis alone is used for diagnostic criteria. Serum total immunoglobulin E (TIgE) quantification, as well as panels containing allergens prevalent in the studied population, may serve as screening tests and facilitate the diagnosis of allergic disease or its exclusion. We assessed the positivity of two versions of these tests, Phadiatop Europe ® (PhEU) and Phadiatop Infant ® (PhInf), as well as total IgE (TigE) values in patients with a medical diagnosis of allergic disease and non-allergic individuals. Methods: A cross-sectional study performed in eleven Brazilian pediatric allergy centers with patients divided into groups according to the primary condition and a group of assessed control subjects. They were submitted to TIgE measurement and screening tests (PhEu and PhInf).

Research paper thumbnail of Primary immunodeficiency with chronic enteropathy and developmental delay in a boy arising from a novel homozygous RIPK1 variant

Journal of Human Genetics, 2019

Identification of genetic causes of primary monogenic immunodeficiencies would strengthen the cur... more Identification of genetic causes of primary monogenic immunodeficiencies would strengthen the current understanding of their immunopathology. Pathogenic variants in genes in association with tumor necrosis factor α (TNFα) signaling, including OTULIN, TNFAIP3, RBCK1, and RNF31 cause human congenital autoinflammatory diseases with/without immunodeficiency. RIPK1, encoding a receptor interacting serine/threonine kinase 1, is present in protein complexes mediating signal transduction including TNF receptor 1. Biallelic loss-of-function variants in RIPK1 were recently reported in individuals with primary immunodeficiency with intestinal bowel disease and arthritis. Here, we report a novel homozygous RIPK1 variant in a boy with immunodeficiency and chronic enteropathy. Our patient exhibited severe motor delay and mild intellectual disability, which were previously unknown. The present results are expected to deepen the current understanding of clinical features based on RIPK1 abnormalities.

Research paper thumbnail of Baked milk tolerant patient: Is there any special feature?

Allergologia et immunopathologia, 2017

Determining whether patients with cow's milk allergy (CMA) can tolerate foods produced with b... more Determining whether patients with cow's milk allergy (CMA) can tolerate foods produced with baked milk could provide a better quality of life, a better prognosis, and an option for desensitization. The aim of this study was to identify which patients over four years of age with persistent CMA could tolerate baked milk, to compare the clinical and laboratory characteristics of reactive and non-reactive groups and to describe their clinical evolution. A cross-sectional study was conducted (January/13 to November/14) that included all the patients followed at a food allergy center who met the inclusion criteria. The patients underwent an oral food challenge (OFC) with a muffin (2.8g of cow's milk protein). To exclude cow's milk (CM) tolerance, the patients were subsequently challenged with unheated CM. Thirty patients met all the inclusion criteria. Fourteen patients (46.7%) were considered non-reactive to baked milk and reactive to unheated CM. When the groups that were re...

Research paper thumbnail of Nasofibroscopia para o diagnóstico dos agravos da rinite alérgica em crianças e adolescentes

Rev Bras Alergia Imunopatol, Dec 1, 2001