A novel IKAROS haploinsufficiency kindred with unexpectedly late and variable B cell maturation defects

Publication date: Available online 18 September 2017
Source:Journal of Allergy and Clinical Immunology
Author(s): Delfien J. Bogaert, Hye Sun Kuehn, Carolien Bonroy, Katherine R. Calvo, Joke Dehoorne, Arnaud V. Vanlander, Marieke De Bruyne, Urszula Cytlak, Venetia Bigley, Frans De Baets, Elfride De Baere, Sergio D. Rosenzweig, Filomeen Haerynck, Melissa Dullaers

Teaser

We report on the first truncating IKZF1 mutation associated with IKAROS haploinsufficiency and illustrate an unexpectedly late and variable block in central and peripheral B cell development in two patients and their asymptomatic mother.


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