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Endocrine, Metabolic & Immune Disorders - Drug Targets

Author(s): Fereshte Salami, Afshin Shirkani*, Mohammad Shahrooei, Gholamreza Azizi, Reza Yazdani, Hassan Abolhassani and Asghar Aghamohammadi*

DOI: 10.2174/1871530319666190807161546

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Leishmaniasis and Autoimmunity in Patient with LPS-Responsive Beige-Like Anchor Protein (LRBA) Deficiency

Page: [479 - 484] Pages: 6

  • * (Excluding Mailing and Handling)

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: LPS-responsive beige-like anchor, primary immunodeficiency, autoimmunity, enteropathy, parasite infections, leishmaniasis.

Graphical Abstract

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