Article
Loss of NHEJ1 Protein Due to a Novel Splice Site Mutation in a Family Presenting with Combined Immunodeficiency, Microcephaly, and Growth Retardation and Literature Review.
Journal of clinical immunology - 1 Aug 2017
Sheikh Farrukh, Hawwari Abbas, Alhissi Safa, Al Gazlan Sulaiman, Al Dhekri Hasan, Rehan Khaliq Agha M, Borrero Esteban, El-Baik Lina, Arnaout Rand, Al-Mousa Hamoud, Alazami Anas M
Abstract excerpt
INTRODUCTION: Non-homologous end joining gene 1 (NHEJ1) defect is a rare form of primary immune deficiency. Very few cases have been described from around the world. PURPOSE: We are reporting the first family from the Arabian Gulf with three siblings presenting with combined immunodeficiency (CID), microcephaly, and growth retardation due to a novel NHEJ1 splice site mutation, in addition to a review of the...
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