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Three Types of Immunodeficiency, Centromeric Instability, and Facial Anomalies (ICF) Syndrome Identified by Whole-Exome Sequencing in Saudi Hypogammaglobulinemia Patients: Clinical, Molecular, and Cytogenetic Features
Journal article   Peer reviewed

Three Types of Immunodeficiency, Centromeric Instability, and Facial Anomalies (ICF) Syndrome Identified by Whole-Exome Sequencing in Saudi Hypogammaglobulinemia Patients: Clinical, Molecular, and Cytogenetic Features

Hamza A Alghamdi, Suha A Tashkandi, Eman M Alidrissi, Rawan D Aledielah, Khelad A AlSaidi, Enas S Alharbi, Murad K Habazi and Mofareh S Alzahrani
Journal of clinical immunology, Vol.38(8), pp.847-853
01/11/2018
DOI: https://doi.org/10.1007/s10875-018-0569-9
PMID: 30511102

Abstract

Agammaglobulinemia Chromosomal Instability Cytogenetic Analysis DNA (Cytosine-5-)-Methyltransferases - genetics DNA Helicases - genetics Face - abnormalities Facial Asymmetry Humans Immunoglobulins, Intravenous - therapeutic use Immunologic Deficiency Syndromes - diagnosis Immunologic Deficiency Syndromes - genetics Immunologic Deficiency Syndromes - therapy Mutation - genetics Pathology, Molecular Pedigree Primary Immunodeficiency Diseases Repressor Proteins - genetics Saudi Arabia Whole Exome Sequencing

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