| Literature DB >> 26707784 |
Omar K Alkhairy1,2, Hassan Abolhassani1,3, Nima Rezaei3,4, Mingyan Fang1,5, Kasper Krogh Andersen1, Zahra Chavoshzadeh6, Iraj Mohammadzadeh7, Mariam A El-Rajab8, Michel Massaad9, Janet Chou9, Asghar Aghamohammadi3, Raif S Geha9, Lennart Hammarström10.
Abstract
To date, several germline mutations have been identified in the LRBA gene in patients suffering from a variety of clinical symptoms. These mutations abolish the expression of the LRBA protein, leading to autoimmunity, chronic diarrhea, B-cell deficiency, hypogammaglobulinemia, functional T-cell defects and aberrant autophagy. We review the clinical and laboratory features of patients with LRBA mutations and present five novel mutations in eight patients suffering from a multitude of clinical features.Entities:
Keywords: Primary immunodeficiency disorders (PID); apoptosis; autoimmune disease (AID); autophagy; chronic diarrhea (CD); common variable immunodeficiency (CVID); cytotoxic T-lymphocyte-associated protein 4 (CTLA4); hypogammaglobulinemia (HGG); lipopolysaccharide responsive beige-like anchor protein (LRBA); organomegaly (OM); regulatory T-cells (Treg)
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Year: 2015 PMID： 26707784 DOI： 10.1007/s10875-015-0224-7
Source DB: PubMed Journal: J Clin Immunol ISSN： 0271-9142 Impact factor: 8.317