Title:Leishmaniasis and Autoimmunity in Patient with LPS-Responsive Beige-Like Anchor Protein (LRBA) Deficiency
Volume: 20
Issue: 3
Author(s): Fereshte Salami, Afshin Shirkani*, Mohammad Shahrooei, Gholamreza Azizi, Reza Yazdani, Hassan Abolhassani and Asghar Aghamohammadi*
Affiliation:
- Allergy and Clinical Immunology Department, School of Medicine, Bushehr University of Medical Science, Bushehr,Iran
- Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center, Tehran University of Medical Sciences, Tehran,Iran
Keywords:
LPS-responsive beige-like anchor, primary immunodeficiency, autoimmunity, enteropathy, parasite infections,
leishmaniasis.
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.
