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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

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

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Author(s):
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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]
Total Authors: 42
Affiliation:
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[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
Total Affiliations: 30
Document type: Journal article
Source: JOURNAL OF CLINICAL IMMUNOLOGY; JAN 2022.
Web of Science Citations: 0
Abstract

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)

FAPESP's process: 20/01688-0 - Systemic and integrative analysis of the immune response to Zika and Dengue viral infections
Grantee:Otávio Cabral Marques
Support Opportunities: Scholarships in Brazil - Young Researchers
FAPESP's process: 17/04187-9 - Functional evaluation of neutrophils in CD40L-DEFICIENCY patients
Grantee:Tábata Takahashi França
Support Opportunities: Scholarships in Brazil - Doctorate
FAPESP's process: 18/18886-9 - Systemic and integrative analysis of the immune response to Zika and Dengue viral infections
Grantee:Otávio Cabral Marques
Support Opportunities: Research Grants - Young Investigators Grants
FAPESP's process: 16/22158-3 - Molecular genetic mechanisms of primary immunodeficiencies
Grantee:Antonio Condino Neto
Support Opportunities: Research Projects - Thematic Grants