Homozygous N-terminal missense mutation in TRNT1 leads to progressive B-cell immunodeficiency in adulthood

Publication date: Available online 13 August 2016
Source:Journal of Allergy and Clinical Immunology
Author(s): Glynis Frans, Leen Moens, Heidi Schaballie, Greet Wuyts, Adrian Liston, Koen Poesen, Ann Janssens, Gillian I. Rice, Yanick J. Crow, Isabelle Meyts, Xavier Bossuyt

Teaser

We present a male patient with a clinical presentation of inflammatory bowel disease, dysmorphic features, bilateral congenital cataracts, and progressive B-cell immunodeficiency caused by homozygosity for the most N-terminal TRNT1 missense mutation described to date.


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