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

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

doi:10.1007/s10875-021-01182-5

Cited by 3 publications

(1 citation statement)

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“…However, the presence of severe pre-transplant infections, organ damage (usually affecting the liver and/or lung), lack of a matched donor, or socioeconomic constraints, while age at transplantation seems to be the major challenge. Recent research found a more favorable outcome and greater event-free survival among patients who underwent transplantation before age 6 years in comparison with patients 6 years or older [ 22 ]. In our cohort, only one patient has been performed HSCT and recovered well, while the other patients had not been treated with HSCT for the matched donor's lack or economic reason.…”

Section: Discussionmentioning

confidence: 99%

Respiratory infections in X-linked hyper-IgM syndrome with CD40LG mutation: a case series of seven children in China

et al. 2022

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Background X-linked hyper-immunoglobulin M (XHIGM), a primary immunodeficiency syndrome caused by mutations in the CD40 ligand gene(CD40LG), presents with recurrent respiratory infections in pediatric patients. We aimed to evaluate the spectrum of clinical features and respiratory pathogens in pediatric patients with XHIGM in China. Methods We retrospectively reviewed seven pediatric patients who were diagnosed with XHIGM and received follow-up treatment at the Guangzhou Women and Children’s Medical Center between January 2010 and January 2021. We determined their clinical characteristics, causative pathogens, and prognosis by performing peripheral immunological and genetic tests. Results There were seven boys with age ranging from 4–20 months (median age, 13 months). Four of the seven respiratory infections were caused by Talaromyces marneffei(T. marneffei). Two patients had viral infections caused by cytomegalovirus (CMV) and human adenovirus respectively. One patient had a mixed infection caused by Pneumocystis carinii and CMV. Except for one child who died of respiratory failure, one patient received hematopoietic stem cell transplantation (HSCT) and recovered well, the other five patients survived with regular infusions of intravenous immunoglobulin (IVIg) during the follow-up period. Six patients had reduced antibody levels, especially IgG, IgA, and IgE levels. Increased serum IgM levels were detected in four cases, and three cases presented normal IgM levels at onset. All children were diagnosed with XHIGM with CD40LG variation. Three novel mutations were identified in the present study. Conclusions Our study suggests that respiratory infections usually begin within 2 years old, fungi and viruses are important pathogens causing respiratory infections in children with XHIGM. In endemic areas, T. marneffei is the common pathogen of respiratory tract infection in children with the disease.

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Section: Discussionmentioning

confidence: 99%