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

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 (range 0.4-14.4) years. On their latest examination, seven patients had no respiratory symptoms. CONCLUSION: Pulmonary manifestations are common in LRBA deficiency. Respiratory characteristics in LRBA-deficient patients should be investigated, monitored, and treated from the time of diagnosis. What is Known: * Lipopolysaccharide-responsive beige-like anchor (LRBA) deficiency is a syndrome of primary immune deficiency and immune dysregulation. * Studies concerning the pulmonary characteristics of LRBA-deficient patients are lacking. What is New: * Respiratory manifestations include infections, bronchiectasis, interstitial lung disease, thoracic lymphadenopathy, and clubbing. * Awareness to pulmonary morbidity in LRBA-deficient patients and involvement of a pulmonologist in the workup and clinical decision-making is important. * Respiratory characteristics in LRBA-deficient patients should be investigated, monitored, and treated from a young age.

Type Journal
ISBN 1432-1076 (Electronic) 0340-6199 (Linking)
Authors Shamriz, O.; Shadur, B.; NaserEddin, A.; Zaidman, I.; Simanovsky, N.; Elpeleg, O.; Kerem, E.; Reiter, J.; Stepensky, P.
Responsible Garvan Author Bella Shadur
Publisher Name EUROPEAN JOURNAL OF PEDIATRICS
Published Date 2018-08-31
Published Volume 177
Published Issue 8
Published Pages 1163-1172
Status Published in-print
DOI 10.1007/s00431-018-3171-5
URL link to publisher's version https://www.ncbi.nlm.nih.gov/pubmed/29777306