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Subcutaneous immunoglobulin replacement therapy in a patient with 18q deletion syndrome, primary immune deficiency, and type 1 diabetes

18q deletion syndrome (OMIM #601808) results from a deletion of a part of a long arm of 18 chromosome and is characterized by mental retardation and congenital malformations. We present an exceptional case of a 12-year-old girl with severe phenotype of 18q deletion syndrome, frequent infections, typ...

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Detalles Bibliográficos
Autores principales: Hogendorf, Anna, Szadkowska, Agnieszka, Michalak, Arkadiusz, Surman, Marta, Trojan-Borczynska, Karolina, Młynarski, Wojciech, Janczar, Szymon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8442480/
https://www.ncbi.nlm.nih.gov/pubmed/34514903
http://dx.doi.org/10.1177/20587384211039400