Article
Biallelic PAX5 mutations cause hypogammaglobulinemia, sensorimotor deficits, and autism spectrum disorder.
The Journal of experimental medicine - 5 Sept 2022
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
Abstract excerpt
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 developmental block and impaired immune responses as the cause of hypogammaglobulinemia. Pax5 mutant mice displayed...
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