Complex Multisystem Phenotype With Immunodeficiency Associated With NBAS Mutations: Reports of Three Patients and Review of the Literature

Complex Multisystem Phenotype With Immunodeficiency Associated With NBAS Mutations: Reports of Three Patients and Review of the Literature

Objectives: Mutations in the neuroblastoma-amplified sequence (NBAS) gene were originally described in patients with skeletal dysplasia or isolated liver disease of variable severity. Subsequent publications reported a more complex phenotype. Among multisystemic clinical symptoms, we were particular...

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Main Authors: Anna Khoreva, Ekaterina Pomerantseva, Natalia Belova, Inna Povolotskaya, Fedor Konovalov, Vladimir Kaimonov, Alena Gavrina, Sergey Zimin, Dmitrii Pershin, Nataliia Davydova, Vasilii Burlakov, Ekaterina Viktorova, Anna Roppelt, Ekaterina Kalinina, Galina Novichkova, Anna Shcherbina
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-09-01
Series:Frontiers in Pediatrics
Subjects:
SOPH syndrome
primary immunodeficiency
osteogenesis imperfecta
liver failure
optic atrophy
Online Access:https://www.frontiersin.org/article/10.3389/fped.2020.00577/full

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