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

Author(s):

Fereshte Salami, Afshin Shirkani*, Mohammad Shahrooei, Gholamreza Azizi, Reza Yazdani, Hassan Abolhassani and Asghar Aghamohammadi*   Pages 1 - 6 ( 6 )

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 LPS-responsive 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

Affiliation:

Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children`s Medical Center, Tehran University of Medical Sciences, Tehran, Allergy and clinical Immunology Department, School of Medicine, Bushehr University of Medical Science, Bushehr, Department of Immunology, Specialised Immunology Laboratory of Dr. Shahrooei, Ahvaz, Non-communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children`s Medical Center, Tehran University of Medical Sciences, Tehran, Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children`s Medical Center, Tehran University of Medical Sciences, Tehran, Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children`s Medical Center, Tehran University of Medical Sciences, Tehran



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