Loss of ARHGEF1 causes a human primary antibody deficiency

ARHGEF1 is a RhoA-specific guanine nucleotide exchange factor expressed in hematopoietic cells. We used whole-exome sequencing to identify compound heterozygous mutations in ARHGEF1, resulting in the loss of ARHGEF1 protein expression in 2 primary antibody–deficient siblings presenting with recurren...

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Bibliografiska uppgifter
I publikationen:J Clin Invest
Huvudupphovsmän: Bouafia, Amine, Lofek, Sébastien, Bruneau, Julie, Chentout, Loïc, Lamrini, Hicham, Trinquand, Amélie, Deau, Marie-Céline, Heurtier, Lucie, Meignin, Véronique, Picard, Capucine, Macintyre, Elizabeth, Alibeu, Olivier, Bras, Marc, Molina, Thierry Jo, Cavazzana, Marina, André-Schmutz, Isabelle, Durandy, Anne, Fischer, Alain, Oksenhendler, Eric, Kracker, Sven
Materialtyp: Artigo
Språk:Inglês
Publicerad: American Society for Clinical Investigation 2019
Ämnen:
Research Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC6391114/
https://ncbi.nlm.nih.gov/pubmed/30521495
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI120572
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