CD40 Ligand Deficiency in Latin America: Clinical, Immunological, and Genetic Characteristics

Autor(es):Mostrar menos -

Franca, Tabata Takahashi ^[1] ; Barreiros, Lucila Akune ^[1] ; Salgado, Ranieri Coelho ^[1] ; da Silva Napoleao, Sarah Maria ^[1] ; Gomes, Lillian Nunes ^[1] ; Severo Ferreira, Janaira Fernandes ^[2] ; Prando, Carolina ^{[3, 4, 5]} ; Weber, Cristina Worm ^[6] ; Watanabe Di Gesu, Regina Sumiko ^[7] ; Montenegro, Cecilia ^[8] ; Aranda, Carolina Sanchez ^{[9, 10]} ; Kuntze, Gisele ^[3] ; Tamara Staines-Boone, Aide ^[11] ; Venegas-Montoya, Edna ^[11] ; Becerra, Juan Carlos Aldave ^[12] ; Bezrodnik, Liliana ^[13] ; Di Giovanni, Daniela ^[13] ; Moreira, Ileana ^[13] ; Analia Seminario, Gisela ^[13] ; Gomez Raccio, Andrea Cecilia ^[13] ; Dorna, Mayra de Barros ^[14] ; Rosario-Filho, Nelson Augusto ^[15] ; Chong-Neto, Herberto Jose ^[15] ; de Carvalho, Elisa ^[16] ; Grotta, Milena Baptistella ^[17] ; Cesar Orellana, Julio ^[18] ; Garcia Dominguez, Miguel ^[19] ; Porras, Oscar ^[20] ; Sasia, Laura ^[21] ; Salvucci, Karina ^[21] ; Garip, Emilio ^[21] ; Bacarini Leite, Luiz Fernando ^[22] ; Neves Forte, Wilma Carvalho ^[23] ; Pinto-Mariz, Fernanda ^[24] ; Goudouris, Ekaterini ^[24] ; Nunez Nunez, Maria Enriqueta ^[25] ; Schelotto, Magdalena ^[8] ; Berron Ruiz, Laura ^[26] ; Ines Liberatore, Diana ^[27] ; Ochs, Hans D. ^[28] ; Cabral-Marques, Otavio ^{[29, 1, 30]} ; Condino-Neto, Antonio ^{[1, 9]}

Afiliação do(s) autor(es):Mostrar menos -

^[1] Univ Sao Paulo, Inst Biomed Sci, Dept Immunol, Sao Paulo, SP - Brazil

^[2] Hosp Infantil Albert Sabin, Fortaleza, Ceara - Brazil

^[3] Hosp Pequeno Principe, Curitiba, Parana - Brazil

^[4] Inst Pesquisa Pele Pequeno Principe, Curitiba, Parana - Brazil

^[5] Fac Pequeno Principe, Curitiba, Parana - Brazil

^[6] Ctr Saude Rocha Weber, Caxias Do Sul, RS - Brazil

^[7] Grp Hosp Conceicao, Hosp Crianca Conceicao, Porto Alegre, RS - Brazil

^[8] Ctr Hosp Pereira Rossell, Montevideo - Uruguay

^[9] Jeffrey Modell Ctr Sao Paulo, Sao Paulo - Brazil

^[10] Univ Fed Sao Paulo, Dept Pediat, Serv Alergia & Imunol, Sao Paulo, SP - Brazil

^[11] Inst Mexicano Seguro Social IMSS, Hosp Especialidades Unidad Med Alta Especialidad, Immunol Serv, UMAE, Monterrey - Mexico

^[12] Hosp Nacl Edgardo Rebagliati Martins, Lima - Peru

^[13] Hosp Ninos Dr Ricardo Gutierrez, Grp Imunol, Buenos Aires, DF - Argentina

^[14] Univ Sao Paulo, Inst Crianca, Dept Pediat, Div Alergia & Imunol, Hosp Clin, Fac Med, Sao Paulo - Brazil

^[15] Univ Fed Parana, Serv Alergia & Imunol, Curitiba, Parana - Brazil

^[16] Brasilia Childrens Hosp, Gastroenterol & Hepatol Clin, Brasilia, DF - Brazil

^[17] Univ Estadual Campinas, Dept Pediat, Med Sch, Campinas - Brazil

^[18] Hosp Ninos Santisima La Trinidad, Div Alergia & Imunol Clin, Cordoba - Argentina

^[19] Hosp Pediat Sinaloa Rigoberto Aguilar Pico, Culiacan, Sinaloa - Mexico

^[20] Hosp Nacl Ninos Dr Carlos Saenz Herrera, San Jose - Costa Rica

^[21] Hosp Infantil Municipal Cordoba, Cordoba - Argentina

^[22] Irmandade Santa Casa Misericordia Sao Paulo, Immunodeficiency Sect, Dept Pediat, Sao Paulo - Brazil

^[23] Santa Casa Sao Paulo Sch Med Sci, Immunol Discipline, Sao Paulo - Brazil

^[24] Univ Fed Rio de Janeiro, Sch Med, Dept Pediat, Rio De Janeiro - Brazil

^[25] Hosp Civil Guadalajara Dr Juan I Menchaca, Dept Pediat, Div Pediat Allergy & Immunol, Guadalajara, Jalisco - Mexico

^[26] Inst Nacl Pediat, Unidad Invest Inmunodeficiencias, Ciudad Del Mexico - Mexico

^[27] Hosp Italiano Buenos Aires, Buenos Aires, DF - Argentina

^[28] Univ Washington, Seattle Childrens Res Inst, Dept Pediat, Sch Med, Seattle, WA - USA

^[29] Univ Sao Paulo, Sch Pharmaceut Sci, Dept Clin & Toxicol Anal, Sao Paulo - Brazil

^[30] Universal Sci Educ & Res Network USERN, Network Immun Infect Malignancy & Autoimmun NIIMA, Sao Paulo - Brazil

• Tipo de documento: Artigo Científico
• Fonte: JOURNAL OF CLINICAL IMMUNOLOGY; JAN 2022.
• Citações Web of Science: 0

Resumo

CD40 ligand (CD40L) deficiency is a rare inborn error of immunity presenting with heterogeneous clinical manifestations. While a detailed characterization of patients affected by CD40L deficiency is essential to an accurate diagnosis and management, information about this disorder in Latin American patients is limited. We retrospectively analyzed data from 50 patients collected by the Latin American Society for Immunodeficiencies registry or provided by affiliated physicians to characterize the clinical, laboratory, and molecular features of Latin American patients with CD40L deficiency. The median age at disease onset and diagnosis was 7 months and 17 months, respectively, with a median diagnosis delay of 1 year. Forty-seven patients were genetically characterized revealing 6 novel mutations in the CD40LG gene. Pneumonia was the most common first symptom reported (66%). Initial immunoglobulin levels were variable among patients. Pneumonia (86%), upper respiratory tract infections (70%), neutropenia (70%), and gastrointestinal manifestations (60%) were the most prevalent clinical symptoms throughout life. Thirty-five infectious agents were reported, five of which were not previously described in CD40L deficient patients, representing the largest number of pathogens reported to date in a cohort of CD40L deficient patients. The characterization of the largest cohort of Latin American patients with CD40L deficiency adds novel insights to the recognition of this disorder, helping to fulfill unmet needs and gaps in the diagnosis and management of patients with CD40L deficiency. (AU)

• Processo FAPESP: 20/01688-0 - Análise sistêmica e integrativa da resposta imune às infecções virais por Zika e Dengue
• Beneficiário: Otávio Cabral Marques
• Modalidade de apoio: Bolsas no Brasil - Jovens Pesquisadores
• Processo FAPESP: 17/04187-9 - Avaliação funcional de neutrófilos em pacientes com deficiência de cd40l
• Beneficiário: Tábata Takahashi França
• Modalidade de apoio: Bolsas no Brasil - Doutorado
• Processo FAPESP: 18/18886-9 - Análise sistêmica e integrativa da resposta imune às infecções virais por Zika e Dengue
• Beneficiário: Otávio Cabral Marques
• Modalidade de apoio: Auxílio à Pesquisa - Jovens Pesquisadores
• Processo FAPESP: 16/22158-3 - Mecanismos genético-moleculares nas imunodeficiências primárias
• Beneficiário: Antonio Condino Neto
• Modalidade de apoio: Auxílio à Pesquisa - Temático