Spectrum of Phenotypes Associated with Mutations in LRBA - PubMed (original) (raw)

Review

doi: 10.1007/s10875-015-0224-7. Epub 2015 Dec 28.

Hassan Abolhassani 1 3, Nima Rezaei 3 4, Mingyan Fang 1 5, Kasper Krogh Andersen 1, Zahra Chavoshzadeh 6, Iraj Mohammadzadeh 7, Mariam A El-Rajab 8, Michel Massaad 9, Janet Chou 9, Asghar Aghamohammadi 3, Raif S Geha 9, Lennart Hammarström 10

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Review

Spectrum of Phenotypes Associated with Mutations in LRBA

Omar K Alkhairy et al. J Clin Immunol. 2016 Jan.

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.

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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