Evaluation of Expression of LRBA and CTLA-4 Proteins in Common Variable Immunodeficiency Patients

References

• Abolhassani H, Aghamohammadi A, Fang M, Rezaei N, Jiang C, Liu X, Pan-Hammarstrom Q, Hammarstrom L. 2019a. Clinical implications of systematic phenotyping and exome sequencing in patients with primary antibody deficiency. Genet Med. 21(1):243–51.
   PubMed Web of Science ®Google Scholar
• Abolhassani H, Hammarstrom L, Cunningham-Rundles C. 2020. Current genetic landscape in common variable immune deficiency. Blood. 135(9):656–67.
   PubMed Web of Science ®Google Scholar
• Abolhassani H, Kiaee F, Tavakol M, Chavoshzadeh Z, Mahdaviani SA, Momen T, Yazdani R, Azizi G, Habibi S, Gharagozlou M, et al. 2018. Fourth update on the iranian national registry of primary immunodeficiencies: integration of molecular diagnosis. J Clin Immunol. 38:816–32.
   PubMed Web of Science ®Google Scholar
• Abolhassani H, Tavakol M, Chavoshzadeh Z, Mahdaviani SA, Momen T, Yazdani R, Azizi G, Movahedi M, Hamidieh AA, Behniafard N, et al. 2019b. National consensus on diagnosis and management guidelines for primary immunodeficiency. Immunol Genet J. 2:1–21.
   Google Scholar
• Alangari A, Alsultan A, Adly N, Massaad MJ, Kiani IS, Aljebreen A, Raddaoui E, Almomen AK, Al-Muhsen S, Geha RS, et al. 2012. LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency. J Allergy Clin Immunol. 130:481–8.e2.
   PubMed Web of Science ®Google Scholar
• Alkhairy OK, Abolhassani H, Rezaei N, Fang M, Andersen KK, Chavoshzadeh Z, Mohammadzadeh I, El-rajab MA, Massaad M, Chou J. 2016. Spectrum of phenotypes associated with mutations in LRBA. J Clin Immunol. 36:33–45.
   PubMed Web of Science ®Google Scholar
• Alroqi FJ, Charbonnier L-M, Baris S, Kiykim A, Chou J, Platt CD, Algassim A, Keles S, Al Saud BK, Alkuraya FS. 2018. Exaggerated follicular helper T-cell responses in patients with LRBA deficiency caused by failure of CTLA4-mediated regulation. J Allergy Clin Immunol. 141:1050–9. e10.
   PubMed Web of Science ®Google Scholar
• Attia P, Phan GQ, Maker AV, Robinson MR, Quezado MM, Yang JC, Sherry RM, Topalian SL, Kammula US, Royal RE. 2005. Autoimmunity correlates with tumor regression in patients with metastatic melanoma treated with anti–cytotoxic T-lymphocyte antigen-4. J clin oncol. 23:6043.
   PubMed Web of Science ®Google Scholar
• Azizi G, Abolhassani H, Mahdaviani SA, Chavoshzadeh Z, Eshghi P, Yazdani R, Kiaee F, Shaghaghi M, Mohammadi J, Rezaei N. 2017a. Clinical, immunologic, molecular analyses and outcomes of iranian patients with LRBA deficiency: a longitudinal study. Pediatr Allergy Immunol. 28:478–84.
   PubMed Web of Science ®Google Scholar
• Azizi G, Abolhassani H, Zaki-Dizaji M, Habibi S, Mohammadi H, Shaghaghi M, Yazdani R, Anaya J-M, Rezaei N, Hammarström L. 2018a. Polyautoimmunity in patients with LPS-responsive beige-like anchor (LRBA) deficiency. Immunol Invest. 47:457–67.
   PubMed Web of Science ®Google Scholar
• Azizi G, Jamee M, Yazdani R, Bagheri Y, Fayyaz F, Jadidi-Niaragh F, Abolhassani H, Aghamohammadi A. 2018b. CTLA-4 expression in CD4+ T cells from patients with LRBA deficiency and common variable immunodeficiency with no known monogenic disease. J Investig Allergol Clin Immunol. 28:422–24.
   PubMed Web of Science ®Google Scholar
• Azizi G, Mirshafiey A, Abolhassani H, Yazdani R, Ghanavatinejad A, Noorbakhsh F, Rezaei N, Aghamohammadi A. 2018c. The imbalance of circulating T helper subsets and regulatory T cells in patients with LRBA deficiency: correlation with disease severity. J Cell Physiol. 233:8767–77.
   PubMed Web of Science ®Google Scholar
• Azizi G, Ziaee V, Tavakol M, Alinia T, Yazdai R, Mohammadi H, Abolhassani H, Aghamohammadi A. 2017b. Approach to the management of autoimmunity in primary immunodeficiency. Scand J Immunol. 85:13–29.
   PubMed Web of Science ®Google Scholar
• Bogaert DJ, Dullaers M, Lambrecht BN, Vermaelen KY, De Baere E, Haerynck F. 2016. Genes associated with common variable immunodeficiency: one diagnosis to rule them all? J Med Genet. 53:575–90.
   PubMed Web of Science ®Google Scholar
• Burns SO, Zenner HL, Plagnol V, Curtis J, Mok K, Eisenhut M, Kumararatne D, Doffinger R, Thrasher AJ, Nejentsev S. 2012. LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia. J Allergy Clin Immunol. 130:1428–32.
   PubMed Web of Science ®Google Scholar
• Charbonnier L-M, Janssen E, Chou J, Ohsumi TK, Keles S, Hsu JT, Massaad MJ, Garcia-Lloret M, Hanna-Wakim R, Dbaibo G. 2015. Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked–like disorder caused by loss-of-function mutations in LRBA. J Allergy Clin Immunol. 135:217–27. e9.
   PubMed Web of Science ®Google Scholar
• De Bruyne M, Bogaert DJ, Venken K, Van den Bossche L, Bonroy C, Roels L, Tavernier SJ, Van De Vijver E, Driessen A, Van Gijn M, et al. 2018. A novel LPS-responsive beige-like anchor protein (LRBA) mutation presents with normal cytotoxic T lymphocyte-associated protein 4 (CTLA-4) and overactive TH17 immunity. J Allergy Clin Immunol. 142:1968–71.
   PubMed Web of Science ®Google Scholar
• Gámez-Díaz L, August D, Stepensky P, Revel-Vilk S, Seidel MG, Noriko M, Morio T, Worth AJ, Blessing J, Van de Veerdonk F. 2016. The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency. J Allergy Clin Immunol. 137:223–30.
   PubMed Web of Science ®Google Scholar
• Habibi S, Zaki-Dizaji M, Rafiemanesh H, Lo B, Jamee M, Gámez-Díaz L, Salami F, Kamali AN, Mohammadi H, Abolhassani H. 2019. Clinical, immunologic, and molecular spectrum of patients with LPS-responsive beige-like anchor protein deficiency: a systematic review. J Allergy Clin Immunol Pract. 7:2379–86.
   Web of Science ®Google Scholar
• Hou TZ, Verma N, Wanders J, Kennedy A, Soskic B, Janman D, Halliday N, Rowshanravan B, Worth A, Qasim W. 2017. Identifying functional defects in patients with immune dysregulation due to LRBA and CTLA-4 mutations. Blood J Am Soc Hematol. 129:1458–68.
   Google Scholar
• Lo B, Abdel-Motal UM. 2017. Lessons from CTLA-4 deficiency and checkpoint inhibition. Curr Opin Immunol. 49:14–19.
   PubMed Web of Science ®Google Scholar
• Lo B, Zhang K, Lu W, Zheng L, Zhang Q, Kanellopoulou C, Zhang Y, Liu Z, Fritz JM, Marsh R. 2015. Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy. Science. 349:436–40.
   PubMed Web of Science ®Google Scholar
• Lopez-Herrera G, Tampella G, Pan-Hammarström Q, Herholz P, Trujillo-Vargas CM, Phadwal K, Simon AK, Moutschen M, Etzioni A, Mory A. 2012. Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity. Am J Hum Genet. 90:986–1001.
   PubMed Web of Science ®Google Scholar
• Maffucci P, Filion CA, Boisson B, Itan Y, Shang L, Casanova J-L, Cunningham-Rundles C. 2016. Genetic diagnosis using whole exome sequencing in common variable immunodeficiency. Front Immunol. 7.
   PubMed Web of Science ®Google Scholar
• Qureshi OS, Kaur S, Hou TZ, Jeffery LE, Poulter NS, Briggs Z, Kenefeck R, Willox AK, Royle SJ, Rappoport JZ, et al. 2012. Constitutive clathrin-mediated endocytosis of CTLA-4 persists during T cell activation. J Biol Chem. 287:9429–40.
   PubMed Web of Science ®Google Scholar
• Rowshanravan B, Halliday N, Sansom DM. 2018. CTLA-4: a moving target in immunotherapy. Blood. 131:58–67.
   PubMed Web of Science ®Google Scholar
• Seidel MG, Kindle G, Gathmann B, Quinti I, Buckland M, Van Montfrans J, Scheible R, Rusch S, Gasteiger LM, Grimbacher B, et al.; COLLABORATORS. 2019. The European society for immunodeficiencies (ESID) registry working definitions for the clinical diagnosis of inborn errors of immunity. J Allergy Clin Immunol Pract. 7:1763–70.
   PubMed Web of Science ®Google Scholar
• Shouval DS, Kowalik M, Snapper SB. 2018. The treatment of inflammatory bowel disease in patients with selected primary immunodeficiencies. J Clin Immunol. 38:579–88.
   PubMed Web of Science ®Google Scholar
• Tak Manesh A, Azizi G, Heydari A, Kiaee F, Shaghaghi M, Hossein-Khannazer N, Yazdani R, Abolhassani H, Aghamohammadi A. 2017. Epidemiology and pathophysiology of malignancy in common variable immunodeficiency? Allergol Immunopathol (Madr). 45:602–15.
   PubMed Web of Science ®Google Scholar
• Tivol EA, Borriello F, Schweitzer AN, Lynch WP, Bluestone JA, Sharpe AH. 1995. Loss of CTLA-4 leads to massive lymphoproliferation and fatal multiorgan tissue destruction, revealing a critical negative regulatory role of CTLA-4. Immunity. 3:541–47.
   PubMed Web of Science ®Google Scholar
• Wang J, Lockey R. 2014. Lipopolysaccharide-responsive beige-like anchor (LRBA), a novel regulator of human immune disorders. Austin J Clin Immunol. 1:9.
   Google Scholar
• Wing K, Onishi Y, Prieto-Martin P, Yamaguchi T, Miyara M, Fehervari Z, Nomura T, Sakaguchi S. 2008. CTLA-4 control over Foxp3+ regulatory T cell function. Science. 322:271–75.
   PubMed Web of Science ®Google Scholar
• Yazdani R, Habibi S, Sharifi L, Azizi G, Abolhassani H, Olbrich P, Aghamohammad A. 2020. Common variable immunodeficiency: epidemiology, pathogenesis, clinical manifestations, diagnosis, classification and management. J Investig Allergol Clin Immunol. 30:14–34.
   PubMed Web of Science ®Google Scholar