Respiratory manifestations in LPS-responsive beige-like anchor (LRBA) protein-deficient patients
| Autor: | Natalia Simanovsky, Adeeb NaserEddin, Joel Reiter, Bella Shadur, Orly Elpeleg, Oded Shamriz, Polina Stepensky, Irina Zaidman, Eitan Kerem |
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| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Male medicine.medical_specialty Pulmonary Atelectasis Adolescent Atelectasis medicine.disease_cause LRBA 03 medical and health sciences 0302 clinical medicine Internal medicine medicine Humans Child Adaptor Proteins Signal Transducing Retrospective Studies Bronchiectasis Lung business.industry Interstitial lung disease Immunologic Deficiency Syndromes Infant Immune dysregulation medicine.disease Chronic cough 030104 developmental biology medicine.anatomical_structure 030228 respiratory system Child Preschool Pediatrics Perinatology and Child Health Female medicine.symptom business Lung Diseases Interstitial Respiratory tract Follow-Up Studies |
| Zdroj: | European journal of pediatrics. 177(8) |
| ISSN: | 1432-1076 |
| Popis: | 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.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. |
| Databáze: | OpenAIRE |
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