Tehran University of Medical Sciences

Science Communicator Platform

Stay connected! Follow us on X network (Twitter):
Share this content! On (X network) By
Leishmaniasis and Autoimmunity in Patient With Lps-Responsive Beige-Like Anchor Protein (Lrba) Deficiency Publisher Pubmed



Salami F1 ; Shirkani A2 ; Shahrooei M3 ; Azizi G4 ; Yazdani R1 ; Abolhassani H1, 5 ; Aghamohammadi A1
Authors
Show Affiliations
Authors Affiliations
  1. 1. Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran
  2. 2. Allergy and Clinical Immunology Department, School of Medicine, Bushehr University of Medical Science, Bushehr, Iran
  3. 3. Department of Immunology, Specialised Immunology Laboratory of Dr. Shahrooei, Ahvaz, Iran
  4. 4. Non-communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran
  5. 5. Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institute at Karolinska University Hospital Huddinge, Stockholm, Sweden

Source: Endocrine# Metabolic and Immune Disorders - Drug Targets Published:2020


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. © 2020 Bentham Science Publishers.
Related Docs
View other Related Docs
1. Clinical, Immunologic, and Molecular Spectrum of Patients With Lps-Responsive Beige-Like Anchor Protein Deficiency: A Systematic Review, Journal of Allergy and Clinical Immunology: In Practice (2019)
2. Polyautoimmunity in Patients With Lps-Responsive Beige-Like Anchor (Lrba) Deficiency, Immunological Investigations (2018)
3. Clinical, Immunologic, Molecular Analyses and Outcomes of Iranian Patients With Lrba Deficiency: A Longitudinal Study, Pediatric Allergy and Immunology (2017)
4. Monogenic Polyautoimmunity in Primary Immunodeficiency Diseases, Autoimmunity Reviews (2018)
5. Identifying Novel Mutations in Iranian Patients With Lps-Responsive Beige-Like Anchor Protein (Lrba) Deficiency, Immunological Investigations (2021)
6. Evaluation of Expression of Lrba and Ctla-4 Proteins in Common Variable Immunodeficiency Patients, Immunological Investigations (2022)
7. G2-Lymphocyte Chromosomal Radiosensitivity in Patients With Lps Responsive Beige-Like Anchor Protein (Lrba) Deficiency, International Journal of Radiation Biology (2019)
8. The Imbalance of Circulating T Helper Subsets and Regulatory T Cells in Patients With Lrba Deficiency: Correlation With Disease Severity, Journal of Cellular Physiology (2018)
Experts (# of related papers)
View all Related Experts
Nima Rezaei (17)
Nima Parvaneh (4)
Other Related Docs
9. Long-Term Outcome of Lrba Deficiency in 76 Patients After Various Treatment Modalities As Evaluated by the Immune Deficiency and Dysregulation Activity (Idda) Score, Journal of Allergy and Clinical Immunology (2020)
10. Lps-Responsive Beige-Like Anchor Gene Mutation Associated With Possible Bronchiolitis Obliterans Organizing Pneumonia Associated With Hypogammaglobulinemia and Normal Igm Phenotype and Low Number of B, Acta Medica Iranica (2016)
11. Spectrum of Phenotypes Associated With Mutations in Lrba, Journal of Clinical Immunology (2016)
12. The Extended Phenotype of Lps-Responsive Beige-Like Anchor Protein (Lrba) Deficiency, Journal of Allergy and Clinical Immunology (2016)
13. New Therapeutic Approach by Sirolimus for Enteropathy Treatment in Patients With Lrba Deficiency, European Annals of Allergy and Clinical Immunology (2017)
14. Common Variable Immunodeficiency: Epidemiology, Pathogenesis, Clinical Manifestations, Diagnosis, Classification, and Management, Journal of Investigational Allergology and Clinical Immunology (2020)
15. Autoimmunity in Primary Antibody Deficiencies, International Archives of Allergy and Immunology (2017)
16. Autoimmunity in Primary T-Cell Immunodeficiencies, Expert Review of Clinical Immunology (2016)
17. Primary Immunodeficiency Diseases in Iran: Past, Present and Future, Archives of Iranian Medicine (2021)
18. Ctla-4 Expression in Cd4 + T Cells From Patients With Lrba Deficiency and Common Variable Immunodeficiency With No Known Monogenic Disease, Journal of Investigational Allergology and Clinical Immunology (2018)
19. Two Faces of Lrba Deficiency in Siblings: Hypogammaglobulinemia and Normal Immunoglobulin Levels, Journal of Investigational Allergology and Clinical Immunology (2018)
20. The Effects of Stimulation With Pma/Ionomycin on Cd4+ T Cell Proliferation and Surface Cd4 Molecule Modulation of Patients With Lrba Deficiency and Cvid With the Unsolved Genetic Defect, Endocrine# Metabolic and Immune Disorders - Drug Targets (2022)
21. Long-Term Follow-Up of Patients With Lps-Responsive Beige-Like Anchor Protein Deficiency After Reduced-Intensity Conditioning for Allogeneic Hematopoietic Stem Cell Transplantation: Report of Two Cases, Hematology# Transfusion and Cell Therapy (2022)
22. Comparison of Common Monogenic Defects in a Large Predominantly Antibody Deficiency Cohort, Journal of Allergy and Clinical Immunology: In Practice (2019)
23. Autoimmune Disorders Associated With Common Variable Immunodeficiency: Prediction, Diagnosis, and Treatment, Expert Review of Clinical Immunology (2022)
24. Autoimmunity in a Cohort of 471 Patients With Primary Antibody Deficiencies, Expert Review of Clinical Immunology (2017)
25. Fourth Update on the Iranian National Registry of Primary Immunodeficiencies: Integration of Molecular Diagnosis, Journal of Clinical Immunology (2018)
26. A Role for Th1-Like Th17 Cells in the Pathogenesis of Inflammatory and Autoimmune Disorders, Molecular Immunology (2019)
27. Mannose-Binding Lectin Protein Deficiency Among Patients With Primary Immunodeficiency Disease Receiving Ivig Therapy, Endocrine# Metabolic and Immune Disorders - Drug Targets (2018)
28. Role of Rare Immune Cells in Common Variable Immunodeficiency, Pediatric Allergy and Immunology (2022)
29. Role of Apoptosis in the Pathogenesis of Common Variable Immunodeficiency (Cvid), Endocrine# Metabolic and Immune Disorders - Drug Targets (2017)
30. Pulmonary Manifestations of Predominantly Antibody Deficiencies, Pulmonary Manifestations of Primary Immunodeficiency Diseases (2018)
31. Next Generation Sequencing Elucidated a Clinically Undiagnosed Metabolic Disorder - an Iranian Family With Hereditary Orotic Aciduria, Gene Reports (2019)
32. Early Onset Inflammatory Bowel Disease: Manifestations, Genetics and Diagnosis, Turkish Journal of Pediatrics (2019)
33. Evaluation of Known Defective Signaling-Associated Molecules in Patients Who Primarily Diagnosed As Common Variable Immunodeficiency, International Reviews of Immunology (2016)
34. The Clinical and Immunological Features of Patients With Primary Antibody Deficiencies, Endocrine# Metabolic and Immune Disorders - Drug Targets (2018)