Respiratory manifestations in LPS-responsive beige-like anchor (LRBA) protein-deficient patients

European Journal of Pediatrics
Oded ShamrizPolina Stepensky

Abstract

Lipopolysaccharide (LPS)-responsive beige-like anchor (LRBA) protein deficiency is a rare syndrome of primary immune deficiency and immune dysregulation. In this study, we sought to summarize our experience with respiratory manifestations in LRBA-deficient patients. We conducted a retrospective analysis of the medical records of LRBA-deficient patients treated at Hadassah-Hebrew University Medical Center, Jerusalem, Israel. Data retrieved included pulmonary workup, disease course, treatment, and outcome. Ten patients were included. Mean age at presentation of LRBA deficiency-related symptoms was 4.65 years (range 3 months-14 years). Respiratory symptoms were noted in six patients and consisted of chronic cough. Computed tomography revealed consolidation in five patients, atelectasis and bronchiectasis in two patients each, and diffuse interstitial lung disease in two additional patients. Respiratory tract cultures yielded a bacterial pathogen in five patients. Seven patients required active therapy: intravenous immunoglobulins (six patients), immunosuppressive drugs (five patients), and one was successfully treated with abatacept. Two patients underwent successful bone marrow transplantation. Mean follow-up period was 4.5 (rang...Continue Reading

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Citations

Jul 31, 2019·Expert Review of Respiratory Medicine·Francesco CinettoCinzia Milito
Dec 14, 2019·Pediatric Pulmonology·Nasim RamziGholamreza Azizi
Dec 19, 2019·Pediatric Rheumatology Online Journal·Rotem Semo Oz, Melissa S Tesher
Oct 6, 2020·Frontiers in Immunology·Iddo VardiDror S Shouval
Sep 23, 2021·Pediatric Pulmonology·Florian GotheMatthias Griese

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