作者
Tábata Takahashi França,Lucila Akune Barreiros,Ranieri Coelho Salgado,Sarah Maria da Silva Napoleão,Lillian Nunes Gomes,Janaíra Fernandes Severo Ferreira,Carolina Prando,Cristiane Seganfredo Weber,Regina Sumiko Watanabe Di Gesu,Cecilia Montenegro,Carolina Sánchez Aranda,Gisele Kuntze,Aidé Tamara Staines‐Boone,Edna Venegas‐Montoya,Juan Carlos Aldave Becerra,Liliana Bezrodnik,Daniela Di Giovanni,Ileana Moreira,Gisela Seminario,Andrea Cecilia Gómez Raccio,Mayra de Barros Dorna,Nelson Augusto Rosário-Filho,Herberto José Chong‐Neto,Elisa de Carvalho,Milena Baptistella Grotta,Julio Orellana,Miguel García Domínguez,Óscar Porras,Laura Sasia,Karina Salvucci,Emilio Garip,Luíz Leite,Wilma Carvalho Neves Forte,Fernanda Pinto‐Mariz,Ekaterini Goudouris,María Enriqueta Nuñez Núñez,Magdalena Schelotto,Laura Berrón Ruiz,Diana Liberatore,Hans D. Ochs,Otávio Cabral-Marques,Antônio Condino‐Neto
摘要
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.