Inborn Errors of Immunity: how to diagnose them?

Authors: Grumach, Anete Sevciovic, Goudouris, Ekaterini Simões

Source: Jornal de Pediatria. April 2021 97(1)

Subject Terms: Immunological evaluation, Immunodeficiencies, Inborn Errors of Immunity, Diagnosis, Investigation, Laboratory tests

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Inborn errors of immunity associated with characteristic phenotypes

Authors: Bardou, Maine Luellah Demaret, Henriques, Marina Teixeira, Grumach, Anete Sevciovic

Source: Jornal de Pediatria. April 2021 97(1)

Subject Terms: Immunodeficiencies, DNA repair deficiency, Thymic defect, NEMO, PNP, Wiskott-Aldrich

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Hereditary angioedema: how to approach it at the emergency department?

Authors: Serpa, Faradiba Sarquis, Mansour, Eli, Aun, Marcelo Vivolo, Giavina-Bianchi, Pedro, Chong Neto, Herberto José, Arruda, Luisa Karla, Campos, Regis Albuquerque, Motta, Antônio Abílio, Toledo, Eliana, Grumach, Anete Sevciovic, Valle, Solange Oliveira Rodrigues

Source: einstein (São Paulo). January 2021 19

Subject Terms: Angioedema, Angioedemas, hereditary, Emergencies, C1-inhibitor, Abdominal pain, Laryngeal edema, Asphyxia, Bradykinin

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II Brazilian Consensus on the use of human immunoglobulin in patients with primary immunodeficiencies

Authors: Goudouris, Ekaterini Simões, Silva, Almerinda Maria do Rego, Ouricuri, Aluce Loureiro, Grumach, Anete Sevciovic, Condino-Neto, Antonio, Costa-Carvalho, Beatriz Tavares, Prando, Carolina Cardoso de Mello, Kokron, Cristina Maria, Vasconcelos, Dewton de Moraes, Tavares, Fabíola Scancetti, Silva Segundo, Gesmar Rodrigues, Barreto, Irma Cecília Douglas Paes, Dorna, Mayra de Barros, Barros, Myrthes Anna Maragna Toledo, Forte, Wilma Carvalho Neves

Source: einstein (São Paulo). March 2017 15(1)

Subject Terms: Immune system diseases, Immunoglobulins, Immunoglobulins, intravenous, Immunologic deficiency syndromes, Immunization, passive

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TRIAGEM NEONATAL DE IMUNODEFICIÊNCIAS GRAVES COMBINADAS POR MEIO DE TRECS E KRECS: SEGUNDO ESTUDO PILOTO NO BRASIL

Authors: Kanegae, Marilia Pyles P., Barreiros, Lucila Akune, Sousa, Jusley Lira, Brito, Marco Antônio S., Oliveira Junior, Edgar Borges de, Soares, Lara Pereira, Mazzucchelli, Juliana Themudo L., Fernandes, Débora Quiorato, Hadachi, Sonia Marchezi, Holanda, Silvia Maia, Guimarães, Flavia Alice T. M., Boacnin, Maura Aparecida P. V. V., Pereira, Marley Aparecida L., Bueno, Joaquina Maria C., Grumach, Anete Sevciovic, Gesu, Regina Sumiko W. Di, Santos, Amélia Miyashiro N. dos, Bellesi, Newton, Costa-Carvalho, Beatriz T., Condino-Neto, Antonio

Source: Revista Paulista de Pediatria. March 2017 35(1)

Subject Terms: Imunodeficiência combinada grave (SCID), Agamaglobulinemia, Triagem neonatal, Síndromes de imunodeficiência, Criança

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CLINICAL MANAGEMENT OF LOCALIZED BCG ADVERSE EVENTS IN CHILDREN

Authors: MOREIRA, Thais das Neves Fraga, MORAES-PINTO, Maria Isabel de, COSTA-CARVALHO, Beatriz Tavares, GRUMACH, Anete Sevciovic, WECKX, Lily Yin

Source: Revista do Instituto de Medicina Tropical de São Paulo. January 2016 58

Subject Terms: BCG vaccine, Adverse event, Therapeutics, Mycobacterium bovis

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Icatibant, an inhibitor of bradykinin receptor 2, for hereditary angioedema attacks: prospective experimental single-cohort study

Authors: Campos, Regis Albuquerque, Valle, Solange Oliveira Rodrigues, França, Alfeu Tavares, Cordeiro, Elisabete, Serpa, Faradiba Sarquis, Mello, Yara Ferreira, Malheiros, Teresinha, Toledo, Eliana, Mansour, Elie, Fusaro, Gustavo, Grumach, Anete Sevciovic

Source: Sao Paulo Medical Journal. January 2014 132(5)

Subject Terms: Angioedemas, hereditary, Complement C1 inhibitor protein, Therapy [subheading], Receptors, bradykinin, Bradykinin

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Alergia a beta-lactâmicos na clínica pediátrica: uma abordagem prática

Authors: Rosário, Nelson A., Grumach, Anete Sevciovic

Source: Jornal de Pediatria. November 2006 82(5)

Subject Terms: Beta-lactâmico, penicilina, cefalosporina, alergia, reação de hipersensibilidade

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Avaliação da pressão inspiratória em crianças com aumento do volume de tonsilas

Authors: Pires, Melissa Guerato, Di Francesco, Renata Cantisani, Grumach, Anete Sevciovic, Mello Jr., João Ferreira de

Source: Revista Brasileira de Otorrinolaringologia. October 2005 71(5)

Subject Terms: tonsila faríngea, palatina, criança, adenoidectomia, tonsilectomia

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Angioedema hereditário: considerações sobre terapia

Authors: Chagas, Kélem de Nardi, Arruk, Viviana Galimbert, Andrade, Maria Elisa Bertocco, Vasconcelos, Dewton de Moraes, Kirschfink, Michael, Duarte, Alberto José da Silva, Grumach, Anete Sevciovic

Source: Revista da Associação Médica Brasileira. September 2004 50(3)

Subject Terms: Angioedema hereditário, Deficiência de inibidor de C1 esterase (C1-INH), Tratamento

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Global frequency, diagnosis, and treatment of hereditary angioedema with normal C1 inhibitor

Authors: Magerl, Markus ^{a, b, ∗}, Riedl, Marc A. ^c, Arruda, Luisa Karla ^d, Bauer, Andrea ^e, Berardi, Alejandro ^f, Bernstein, Jonathan A. ^g, Bouillet, Laurence ^h, Buckland, Matthew ⁱ, Buttgereit, Thomas ^{a, b}, Cohn, Danny M. ^j, Craig, Timothy ^k, Criado, Roberta F. ^l, Du-Thanh, Aurélie ^m, Fain, Olivier ⁿ, Gonçalo, Margarida ^o, Greve, Jens ^p, Grumach, Anete Sevciovic ^q, Guilarte, Mar ^r, Katelaris, Constance ^s, Kinaciyan, Tamar ^t, Latysheva, Elena A. ^u, Lleonart, Ramon ^v, Llosa, Oscar Calderón ^w, Mansour, Eli ^x, Grivcheva-Panovska, Vesna ^y, Parisi, Claudio ^z, Rosario Filho, Nelson Augusto ^aa, Santos, Amélia Spínola ^bb, Staubach, Petra ^cc, Valerieva, Anna ^dd, Rodrigues Valle, Solange Oliveira ^ee, Danese, Sherry ^ff, Ulloa, Julie ^ff, Audhya, Paul K. ^gg, Maurer, Marcus ^{a, b}

Source: In Journal of Allergy and Clinical Immunology: Global August 2025 4(3)

Chédiak-Higashi syndrome: presentation of seven cases

Authors: Carnide, Eugénia Maria Grilo, Jacob, Cristina Miuki Abe, Pastorino, Antonio Carlos, Bellinati-Pires, Raquel, Costa, Maria Beatriz Guimarães, Grumach, Anete Sevciovic

Source: Sao Paulo Medical Journal. November 1998 116(6)

Subject Terms: Chédiak-Higashi, Primary immunodeficiency, Phagocyte, Child

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Comment to: II Brazilian Consensus on the use of human immunoglobulin in patients with primary immunodeficiencies. einstein (São Paulo). 2017;15(1):1-16

Authors: Goudouris, Ekaterini Simões, Silva, Almerinda Maria do Rego, Ouricuri, Aluce Loureiro, Grumach, Anete Sevciovic, Condino-Neto, Antonio, Costa-Carvalho, Beatriz Tavares, Prando, Carolina Cardoso de Mello, Kokron, Cristina Maria, Vasconcelos, Dewton de Moraes, Tavares, Fabíola Scancetti, Segundo, Gesmar Rodrigues Silva, Barreto, Irma Cecília Douglas Paes, Dorna, Mayra de Barros, Barros, Myrthes Anna Maragna Toledo, Forte, Wilma Carvalho Neves

Source: einstein (São Paulo). December 2017 15(4)

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In-vitro NLRP3 functional test assists the diagnosis of cryopyrin-associated periodic syndrome (CAPS) patients: A Brazilian cooperation

Authors: Mendonça, Leonardo Oliveira, Toledo-Barros, Myrthes Anna Maragna, Leal, Vinicius Nunes Cordeiro, Roa, Mariela Estefany Gislene Vera, Cambuí, Raylane Adrielle Gonçalves, Toledo, Eliana, Barros, Samar Freschi, de Oliveira, Amanda Melato, Rivitti-Machado, Maria Cecília, Francescantonio, Isadora Carvalho Medeiros, Grumach, Anete Sevciovic, de Oliveira Penido, Norma, Castro, Fabio Fernandes Morato, Kalil, Jorge, Pontillo, Alessandra

Source: In Clinical Immunology December 2022 245

Triggers of Exacerbation in Chronic Urticaria and Recurrent Angioedema—Prevalence and Relevance

Authors: Grumach, Anete Sevciovic, Staubach-Renz, Petra, Villa, Ricardo Cardona, Diez-Zuluaga, Susana, Reese, Imke, Lumry, William R.

Source: In The Journal of Allergy and Clinical Immunology: In Practice June 2021 9(6):2160-2168

The Panorama of Primary Angioedema in the Brazilian Population

Authors: Cagini, Nathália, Mansour, Eli, da Silva, Jane, Giavina-Bianchi, Pedro, Teixeira, Ana Júlia, Valle, Solange Rodrigues, Goudouris, Ekaterini, Serpa, Faradiba Sarquis, Moyses, Therezinha R., Campinhos, Fernanda Lugão, Ensina, Luis Felipe, Aranda, Carolina Sánchez, Rizzo, Maria Cândida, Campos, Régis A., Gonçalves, Rozana Fátima, Minafra, Fernanda Gontijo, de Souza Bernardes, Marli, Chong-Neto, Herberto José, Filho, Nelson Rosário, Guth, Carolina, Toledo, Eliana, Coelho Dias, Gabriela Andrade, Piccirillo, Miguel Alberto, Severo Ferreira, Janáira Fernandes, Marcelino, Fernanda Casares, da Rocha Rolins Neto, Pedro, Franco, Jackeline Motta, Pafume de Sá, Gustavo, Garro, Laila Sabino, Carolina da Matta Ain, Ana, Velasco, Helena F., Fernandes Carvalho, Ellaine Dóris, Fernandes Carvalho de Andrade, Maria Denise, Boll, Cristiane Alves, Ferraroni, Natasha Rebouças, Martins Pinto Swensson, Ana Carolina, Vilela Rabelo, Leandro Augusto, Pacheco de Figueiredo, Joanemile, Figueredo, Raphael Coelho, Mendes, Ronney Corrêa, Sales, Valéria S.F., Bacarini Leite, Luiz Fernando, Beltran Moschione Castro, Ana Paula, Ferreira Mascarenhas, Elke C., Teixeira, Thais Bomfim, Campos Teixeira, Camila A., Pereira de Lira Marques, Adriana, Pires Amaral Resende, Ludmilla Luzia, Sandrin, Leda das Neves Almeida, Tavares, Clarissa Soares, Veronez, Camila Lopes, Mendes, Agatha Ribeiro, Leite, Caroliny Souza, Gomes, Caio Perez, Grumach, Anete Sevciovic, Pesquero, João Bosco

Source: In The Journal of Allergy and Clinical Immunology: In Practice June 2021 9(6):2293-2304

The Burden of Hereditary Angioedema in a Large Family in Brazil.

Authors: Gehlen, Carolina Teló, Mazzeu, Juliana Forte, Veronez, Camila Lopes, Mendes, Agatha Ribeiro, Bertoli, Andrezza Fabrízia, Grumach, Anete Sevciovic, Pesquero, João Bosco, da Silva, Jane

Source: International Archives of Allergy & Immunology; 2024, Vol. 185 Issue 12, p1207-1215, 9p

Subject Terms: OLDER patients, HEREDITY, SOCIAL history, SOCIAL impact, SMALL cities

Chapter 173 - Complement System

Authors: Grumach, Anete Sevciovic

Source: In Nelson Textbook of Pediatrics Edition: 22nd Edition. 2025:1315-1323

Epidemiological characterization of rare diseases in Brazil: A retrospective study of the Brazilian Rare Diseases Network.

Authors: de Oliveira, Bibiana Mello, Bernardi, Filipe Andrade, Baiochi, João Francisco, Neiva, Mariane Barros, Artifon, Milena, Vergara, Alberto Andrade, Martins, Ana Maria, Grumach, Anete Sevciovic, Acosta, Angelina Xavier, Husny, Antonette Souto El, de Freitas Rodrigues Ribeiro, Bethania, Ramos, Camila Ferreira, Steiner, Carlos Eduardo, Kim, Chong Ae, Christofolini, Denise Maria, Yamada, Diego Bettiol, Carvalho, Ellaine Doris Fernandes, Ribeiro, Erlane Marques, de Arruda Bastos, Fabíola, Serpa, Faradiba Sarquis

Source: Orphanet Journal of Rare Diseases; 10/30/2024, Vol. 19 Issue 1, p1-13, 13p

Subject Terms: HEALTH facilities, RARE diseases, SYMPTOMS, NEWBORN screening, CYSTIC fibrosis, MOTOR neuron diseases

Hereditary Angioedema with Normal C1 Inhibitor and F12 Mutations in 42 Brazilian Families

Authors: Veronez, Camila Lopes, Moreno, Adriana S., Constantino-Silva, Rosemeire Navickas, Maia, Luana S.M., Ferriani, Mariana P.L., Castro, Fábio F.M., Valle, Solange Rodrigues, Nakamura, Victor Koji, Cagini, Nathália, Gonçalves, Rozana Fátima, Mansour, Eli, Serpa, Faradiba Sarquis, Coelho Dias, Gabriela Andrade, Piccirillo, Miguel Alberto, Toledo, Eliana, de Souza Bernardes, Marli, Cichon, Sven, Stieber, Christiane, Arruda, L. Karla, Pesquero, João Bosco, Grumach, Anete Sevciovic

Source: In The Journal of Allergy and Clinical Immunology: In Practice July-August 2018 6(4):1209-1216