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.