Biallelic PAX5 mutations cause hypogammaglobulinemia, sensorimotor deficits, and autism spectrum disorder

The genetic causes of primary antibody deficiencies and autism spectrum disorder (ASD) are largely unknown. Here, we report a patient with hypogammaglobulinemia and ASD who carries biallelic mutations in the transcription factor PAX5. A patient-specific Pax5 mutant mouse revealed an early B cell dev...

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Detalles Bibliográficos
Autores principales: Kaiser, Fabian M.P., Gruenbacher, Sarah, Oyaga, Maria Roa, Nio, Enzo, Jaritz, Markus, Sun, Qiong, van der Zwaag, Wietske, Kreidl, Emanuel, Zopf, Lydia M., Dalm, Virgil A.S.H., Pel, Johan, Gaiser, Carolin, van der Vliet, Rick, Wahl, Lucas, Rietman, André, Hill, Louisa, Leca, Ines, Driessen, Gertjan, Laffeber, Charlie, Brooks, Alice, Katsikis, Peter D., Lebbink, Joyce H.G., Tachibana, Kikuë, van der Burg, Mirjam, De Zeeuw, Chris I., Badura, Aleksandra, Busslinger, Meinrad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Rockefeller University Press 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9372349/
https://www.ncbi.nlm.nih.gov/pubmed/35947077
http://dx.doi.org/10.1084/jem.20220498

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9372349/
https://www.ncbi.nlm.nih.gov/pubmed/35947077
http://dx.doi.org/10.1084/jem.20220498

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