[1] |
Lopez-Herrera G, Tampella G, Pan-Hammarström Q, et al. Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity[J]. Am J Hum Genet, 2012, 90(6): 986-1001.
doi: 10.1016/j.ajhg.2012.04.015
pmid: 22608502
|
[2] |
Alangari A, Alsultan A, Adly N, et al. LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency[J]. J Allergy Clin Immunol, 2012, 130(2): 481-488.
doi: 10.1016/j.jaci.2012.05.043
pmid: 22721650
|
[3] |
Alkhairy OK, Abolhassani H, Rezaei N, et al. Spectrum of phenotypes associated with mutations in LRBA[J]. J Clin Immunol, 2016, 36(1): 33-45.
doi: 10.1007/s10875-015-0224-7
pmid: 26707784
|
[4] |
Habibi S, Zaki-Dizaji M, Rafiemanesh H, et al. Clinical, immunologic, and molecular spectrum of patients with LPS-responsive beige-like anchor protein deficiency: a systematic review[J]. J Allergy Clin Immunol Pract, 2019, 7(7): 2379-2386.
doi: S2213-2198(19)30384-8
pmid: 30995531
|
[5] |
Revel-Vilk S, Fischer U, Keller B, et al. Autoimmune lymphoproliferative syndrome-like disease in patients with LRBA mutation[J]. Clin Immunol, 2015, 159(1): 84-92.
doi: 10.1016/j.clim.2015.04.007
pmid: 25931386
|
[6] |
Mayor PC, Eng KH, Singel KL, et al. Cancer in primary immunodeficiency diseases: cancer incidence in the United States immune deficiency network registry[J]. J Allergy Clin Immunol, 2018, 141(3): 1028-1035.
doi: S0091-6749(17)30925-9
pmid: 28606585
|
[7] |
Riaz IB, Faridi W, Patnaik MM, et al. A systematic review on predisposition to lymphoid (B and T cell) neoplasias in patients with primary immunodeficiencies and immune dysregulatory disorders (inborn errors of immunity)[J]. Front Immunol, 2019, 10: 777.
doi: 10.3389/fimmu.2019.00777
pmid: 31057537
|
[8] |
Seidel MG, Böhm K, Dogu F, et al. Treatment of severe forms of LPS-responsive beige-like anchor protein deficiency with allogeneic hematopoietic stem cell transplantation[J]. J Allergy Clin Immunol, 2018, 141(2): 770-775.
doi: S0091-6749(17)30747-9
pmid: 28502825
|
[9] |
Tesch VK, Abolhassani H, Shadur B, et al. Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score[J]. J Allergy Clin Immunol, 2020, 145(5): 1452-1463.
|
[10] |
Lo B, Zhang K, Lu W, et al. AUTOIMMUNE DISEASE. Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy[J]. Science, 2015, 349(6246): 436-440.
|
[11] |
Straus SE, Jaffe ES, Puck JM, et al. The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis[J]. Blood, 2001, 98(1): 194-200.
doi: 10.1182/blood.v98.1.194
pmid: 11418480
|
[12] |
López-Nevado M, González-Granado LI, Ruiz-García R, et al. Primary immune regulatory disorders with an autoimmune lymphoproliferative syndrome-like phenotype: immunologic evaluation,early diagnosis and management[J]. Front Immunol, 2021, 12: 671755.
|
[13] |
Teachey DT, Greiner R, Seif A, et al. Treatment with sirolimus results in complete responses in patients with autoimmune lymphoproliferative syndrome[J]. Br J Haematol, 2009, 145(1): 101-106.
|
[14] |
Azizi G, Abolhassani H, Zaki-Dizaji M, et al. Polyautoimmunity in patients with LPS-responsive beige-like anchor (LRBA) deficiency[J]. Immunol Invest, 2018, 47(5): 457-467.
doi: 10.1080/08820139.2018.1446978
pmid: 29528757
|
[15] |
Kiykim A, Ogulur I, Dursun E, et al. Abatacept as a long-term targeted therapy for LRBA deficiency[J]. J Allergy Clin Immunol Pract, 2019, 7(8): 2790-2800.
|
[16] |
Taghizade N, Babayeva R, Kara A, et al. Therapeutic modalities and clinical outcomes in a large cohort with LRBA deficiency and CTLA4 insufficiency[J]. J Allergy Clin Immunol, 2023, 152(6): 1634-1645.
doi: 10.1016/j.jaci.2023.08.004
pmid: 37595759
|
[17] |
Miyamoto S, Umeda K, Kurata M, et al. Hematopoietic cell transplantation for inborn errors of immunity other than severe combined immunodeficiency in Japan: retrospective analysis for 1985-2016[J]. J Clin Immunol, 2022, 42(3): 529-545.
doi: 10.1007/s10875-021-01199-w
pmid: 34981329
|
[18] |
Lacan C, Lambert J, Forcade E, et al. Bone marrow graft versus peripheral blood graft in haploidentical hematopoietic stem cells transplantation: a retrospective analysis in1344 patients of SFGM-TC registry[J]. J Hematol Oncol, 2024, 17(1): 2.
|