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
[http://dx.doi.org/10.1016/j.jaci.2015.09.025] [PMID: 26768763]
[http://dx.doi.org/10.1097/MIB.0000000000000266] [PMID: 25479458]
[http://dx.doi.org/10.1016/j.clim.2016.03.006] [PMID: 27057999]
[http://dx.doi.org/10.1111/pai.12735] [PMID: 28512785]
[http://dx.doi.org/10.1007/s10875-016-0289-y] [PMID: 27146671]
[http://dx.doi.org/10.1007/s10875-015-0224-7] [PMID: 26707784]
[http://dx.doi.org/10.1016/j.ajhg.2012.04.015] [PMID: 22608502]
[http://dx.doi.org/10.1002/jcp.26772] [PMID: 29806698]
[http://dx.doi.org/10.23822/EurAnnACI.1764-1489.22] [PMID: 28884992]
[http://dx.doi.org/10.1007/s00436-018-6041-1] [PMID: 30105405]
[http://dx.doi.org/10.1080/08820139.2016.1214962] [PMID: 27759478]
[http://dx.doi.org/10.1007/s10875-017-0448-9] [PMID: 28993958]
[http://dx.doi.org/10.1016/j.clim.2015.04.007] [PMID: 25931386]
[http://dx.doi.org/10.1016/j.jaci.2012.05.043] [PMID: 22721650]
[http://dx.doi.org/10.18176/jiaci.0205] [PMID: 29461210]
[http://dx.doi.org/10.1016/B978-0-12-407679-2.00005-3] [PMID: 23415155]
[http://dx.doi.org/10.1126/science.aaa1663] [PMID: 26206937]
[http://dx.doi.org/10.1172/JCI85647] [PMID: 27760045]
[http://dx.doi.org/10.1186/s13023-017-0682-5] [PMID: 28720148]
[http://dx.doi.org/10.4314/ejhs.v26i4.10] [PMID: 27587936]
[http://dx.doi.org/10.1007/s10875-015-0220-y] [PMID: 26686526]
[http://dx.doi.org/10.1016/j.jaci.2012.07.035] [PMID: 22981790]
[http://dx.doi.org/10.1177/2040622313485275] [PMID: 23819020]
[http://dx.doi.org/10.1186/s12916-016-0673-8] [PMID: 27623861]