Article
Clinical Phenotypes and Immunological Characteristics of 18 Egyptian LRBA Deficiency Patients.
Journal of clinical immunology - 1 Aug 2020
Meshaal Safa, El Hawary Rabab, Adel Rana, Abd Elaziz Dalia, Erfan Aya, Lotfy Sohilla, Hafez Mona, Hassan Mona, Johnson Matthew, Rojas-Restrepo Jessica, Gamez-Diaz Laura, Grimbacher Bodo, Shoman Walaa, Abdelmeguid Yasmine, Boutros Jeannette, Galal Nermeen, El-Guindy Nancy, Elmarsafy Aisha
Abstract excerpt
LPS-responsive beige-like anchor (LRBA) deficiency is an autosomal recessive primary immunodeficiency disorder, OMIM (#614700). LRBA deficiency patients suffer from variable manifestations including recurrent infections, immune dysregulation, autoimmunity, cytopenias, and enteropathy. This study describes different clinical phenotypes and immunological characteristics of 18 LRBA deficiency patients diagnosed from...
Topics
- Adaptor Proteins, Signal Transducing
- Agammaglobulinemia
- B-Lymphocytes
- Biomarkers
- CTLA-4 Antigen
- Child
- Child, Preschool
- Egypt
- Female