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

Tábata Takahashi FrançaLucila Akune BarreirosRanieri Coelho SalgadoSarah Maria da Silva NapoleãoLillian Nunes GomesJanáira Fernandes Severo FerreiraCarolina PrandoCristina Worm WeberRegina Sumiko Watanabe Di GesuCecilia MontenegroCarolina Sanchez ArandaGisele KuntzeAidé Tamara Staines-BooneEdna Venegas-MontoyaJuan Carlos Aldave BecerraLiliana BezrodnikDaniela Di GiovanniIleana MoreiraGisela Analia SeminarioAndrea Cecilia Gómez RaccioMayra de Barros DornaNelson Augusto Rosário-FilhoHerberto Jose Chong-NetoElisa de CarvalhoMilena Baptistella GrottaJulio Cesar OrellanaMiguel Garcia DominguezOscar PorrasLaura SasiaKarina SalvucciEmilio GaripLuiz Fernando Bacarini LeiteWilma Carvalho Neves ForteFernanda Pinto-MarizEkaterini GoudourisMaría Enriqueta Nuñez NuñezMagdalena SchelottoLaura Berrón RuizDiana Inés LiberatoreHans D OchsOtavio Cabral-MarquesAntonio Condino-Neto
Published in: Journal of clinical immunology (2022)
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.
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