Article
BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells.
Brain : a journal of neurology - 1 Aug 2018
Lessel Davor, Gehbauer Christina, Bramswig Nuria C, Schluth-Bolard Caroline, Venkataramanappa Sathish, van Gassen Koen L I, Hempel Maja, Haack Tobias B, Baresic Anja, Genetti Casie A, Funari Mariana F A, Lessel Ivana, Kuhlmann Leonie, Simon Ruth, Liu Pentao, Denecke Jonas, Kuechler Alma, de Kruijff Ineke, Shoukier Moneef, Lek Monkol, Mullen Thomas, Lüdecke Hermann-Josef, Lerario Antonio M, Kobbe Robin, Krieger Thorsten, Demeer Benedicte, Lebrun Marine, Keren Boris, Nava Caroline, Buratti Julien, Afenjar Alexandra, Shinawi Marwan, Guillen Sacoto Maria J, Gauthier Julie, Hamdan Fadi F, Laberge Anne-Marie, Campeau Philippe M, Louie Raymond J, Cathey Sara S, Prinz Immo, Jorge Alexander A L, Terhal Paulien A, Lenhard Boris, Wieczorek Dagmar, Strom Tim M, Agrawal Pankaj B, Britsch Stefan, Tolosa Eva, Kubisch Christian
Abstract excerpt
The transcription factor BCL11B is essential for development of the nervous and the immune system, and Bcl11b deficiency results in structural brain defects, reduced learning capacity, and impaired immune cell development in mice. However, the precise role of BCL11B in humans is largely unexplored, except for a single patient with a BCL11B missense mutation, affected by multisystem anomalies and profound immune...
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