Clinical, immunologic, molecular analyses and outcomes of iranian patients with LRBA deficiency: A longitudinal study

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology
Gholamreza AziziAsghar Aghamohammadi

Abstract

LPS-responsive beige-like anchor protein (LRBA) deficiency is a combined immunodeficiency caused by mutation in LRBA gene. The patients have a variety of clinical symptoms including hypogammaglobulinemia, recurrent infections, autoimmunity, and enteropathy. A total of 17 LRBA-deficient patients were enrolled in this longitudinal study. For all patients, demographic information, clinical records, laboratory, and molecular data were collected. Hypogammaglobulinemia was reported in 14 (82.4%), CD4+ T-cell deficiency in five (29.4%), NK cell deficiency in three (21.4%), and CD19+ B-cell deficiency in 11 (64.7%) patients. All patients had history of infectious complications; pneumonia was the most common (76.5%) occurring infection. A history of lymphoproliferative disorders was observed in 14 (82.3%), enteropathy in 13 (76.5%), allergic symptoms in six (35.5%), neurologic problems in four (23.5), and autoimmunity (mostly autoimmune cytopenia) in 13 (76.5%) patients. Sirolimus treatment improved enteropathy of patients with remarkable success. The 20-year overall survival rate declined to 70.6%. LRBA deficiency has a very broad and variable phenotype and should be considered, especially in children with early-onset hypogammaglobulin...Continue Reading

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Citations

Mar 13, 2018·Immunological Investigations·Gholamreza AziziAsghar Aghamohammadi
Oct 12, 2018·Journal of Clinical Immunology·Hassan AbolhassaniAsghar Aghamohammadi
Aug 8, 2019·Endocrine, Metabolic & Immune Disorders Drug Targets·Fereshte SalamiAsghar Aghamohammadi
Oct 12, 2017·Expert Review of Clinical Immunology·Gholamreza AziziAsghar Aghamohammadi
Feb 5, 2019·International Journal of Radiation Biology·Hossein MozdaraniAsghar Aghamohammadi
Jun 30, 2018·Journal of Clinical Immunology·Dror S ShouvalScott B Snapper
May 29, 2018·Journal of Clinical Immunology·Svetlana O SharapovaOlga V Aleinikova
Jun 9, 2020·Journal of Clinical Immunology·Safa MeshaalAisha Elmarsafy
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May 31, 2019·Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology·Philippe Eigenmann
Oct 6, 2020·Frontiers in Immunology·Iddo VardiDror S Shouval
Sep 12, 2020·Journal of Clinical Immunology·Aaqib Zaffar BandayAmit Rawat
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Mar 29, 2021·Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology·Gholamreza AziziAsghar Aghamohammadi
Nov 14, 2020·The Journal of Allergy and Clinical Immunology. in Practice·Andrea A MauracherJana Pachlopnik Schmid
Aug 14, 2021·Biomedical Journal·Laura Gámez-Díaz, Bodo Grimbacher
Dec 24, 2021·European Journal of Pediatrics·Aleksandra Szczawinska-PoplonykMonika Wiczuk-Wiczewska

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