مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources

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Information Journal Paper

Title

Joint Involvement in Patients with LPS-Responsive and Beige-Like Anchor Protein (LRBA) Deficiency: A Case Report and Literature Review

Pages

  14-21

Abstract

 Background: Lipopolysaccharide-responsive beige-like anchor (LRBA) deficiency is an inborn error of immunity characterized by a heterogeneous spectrum of manifestations, including enteropathy, immune dysregulation, and autoimmune disorder. Joint involvement has been less frequently reported, and limited data regarding its clinical presentation in LRBA deficiency has been published. Case presentation and review results: We reported an Iranian girl who was initially presented with recurrent respiratory tract infections and otitis media, later complicated by arthritis, growth failure, and organomegaly. The diagnosis of LRBA deficiency was confirmed by the identification of a novel homozygous missense variant in the LRBA gene (c. 7742T>A, p. M2581K). Along with this report, a literature review focused on joint involvement, on 26 patients with LRBA deficiency was performed. Conclusion: Non-infectious manifestations such as joint involvement have a broad spectrum in LRBA deficiency. For the timely diagnosis and appropriate clinical management, LRBA deficiency should always be kept in mind as a differential diagnosis in patients with joint involvement and clinically typical immune dysregulation.

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    APA: Copy

    Rasouli, Seyed Erfan, Sharifinejad, Niusha, FALLAHI, MAZDAK, Hashemi Moghaddam, Seyedeh Atefeh, REKABI, MAHSA, Daneshmand, Zahra, MAHDAVIANI, SEYED ALIREZA, & VELAYATI, ALI AKBAR. (2021). Joint Involvement in Patients with LPS-Responsive and Beige-Like Anchor Protein (LRBA) Deficiency: A Case Report and Literature Review. IMMUNOLOGY AND GENETICS JOURNA, 4(1), 14-21. SID. https://sid.ir/paper/1076727/en

    Vancouver: Copy

    Rasouli Seyed Erfan, Sharifinejad Niusha, FALLAHI MAZDAK, Hashemi Moghaddam Seyedeh Atefeh, REKABI MAHSA, Daneshmand Zahra, MAHDAVIANI SEYED ALIREZA, VELAYATI ALI AKBAR. Joint Involvement in Patients with LPS-Responsive and Beige-Like Anchor Protein (LRBA) Deficiency: A Case Report and Literature Review. IMMUNOLOGY AND GENETICS JOURNA[Internet]. 2021;4(1):14-21. Available from: https://sid.ir/paper/1076727/en

    IEEE: Copy

    Seyed Erfan Rasouli, Niusha Sharifinejad, MAZDAK FALLAHI, Seyedeh Atefeh Hashemi Moghaddam, MAHSA REKABI, Zahra Daneshmand, SEYED ALIREZA MAHDAVIANI, and ALI AKBAR VELAYATI, “Joint Involvement in Patients with LPS-Responsive and Beige-Like Anchor Protein (LRBA) Deficiency: A Case Report and Literature Review,” IMMUNOLOGY AND GENETICS JOURNA, vol. 4, no. 1, pp. 14–21, 2021, [Online]. Available: https://sid.ir/paper/1076727/en

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