Leishmaniasis and Autoimmunity in Patient with LPS-Responsive Beige-Like Anchor Protein (LRBA) Deficiency
- 24 March 2020
- journal article
- research article
- Published by Bentham Science Publishers Ltd. in Endocrine, Metabolic & Immune Disorders - Drug Targets
- Vol. 20 (3), 479-484
- https://doi.org/10.2174/1871530319666190807161546
Abstract
Background/Objective: LPS-responsive beige-like anchor protein (LRBA) deficiency is a combined immunodeficiency and immune dysregulation. The authors present a case report of LPSresponsive beige-like anchor protein (LRBA) deficiency with the history of autoimmunity, enteropathy and visceral leishmaniasis. Sirolimus therapy was started for autoimmunity and enteropathy but was discontinued due to recurrent leishmaniasis. Therefore, a common side-effect of many immunosuppressive drugs in patients with LRBA deficiency is increased susceptibility to infections. Methods: Whole exome sequencing was performed to detect the underlying genetic mutation and Leishmania DNA was detected by the PCR technique in this patient. Results: Whole exome sequencing of the patient reported a homozygous frameshift deletion mutation in the LRBA gene (NM_006726: exon29: c.4638delC, p. S1546fs). Leishmania DNA PCR was positive in this case. Conclusion: Parasite infections manifestations report in LRBA deficiency. Leishmania infections in patients with chronic diarrhea and autoimmunity should be considered for immunodeficiency.Keywords
This publication has 25 references indexed in Scilit:
- Spectrum of Phenotypes Associated with Mutations in LRBAJournal of Clinical Immunology, 2015
- A Successful HSCT in a Girl with Novel LRBA Mutation with Refractory Celiac DiseaseJournal of Clinical Immunology, 2015
- Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapyScience, 2015
- Autoimmune lymphoproliferative syndrome-like disease in patients with LRBA mutationClinical Immunology, 2015
- Atypical Manifestation of LRBA Deficiency with Predominant IBD-like PhenotypeInflammatory Bowel Diseases, 2015
- Prevention of infection caused by immunosuppressive drugs in gastroenterologyTherapeutic Advances in Chronic Disease, 2013
- Mechanisms of Immune Evasion in LeishmaniasisAdvances in Applied Microbiology, 2013
- LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemiaJournal of Allergy and Clinical Immunology, 2012
- LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiencyJournal of Allergy and Clinical Immunology, 2012
- Deleterious Mutations in LRBA Are Associated with a Syndrome of Immune Deficiency and AutoimmunityAmerican Journal of Human Genetics, 2012