Acknowledgement
We thank to Min-Ji Kim for statistical advisory. The authors thank the patients and their families for their cooperation.
References
- Bousfiha A, Moundir A, Tangye SG, Picard C, Jeddane L, Al-Herz W, et al. The 2022 update of IUIS phenotypical classification for human inborn errors of immunity. J Clin Immunol 2022;42:1508-20. https://doi.org/10.1007/s10875-022-01352-z
- Abolhassani H, Wang Y, Hammarstrom L, Pan-Hammarstrom Q. Hallmarks of cancers: primary antibody deficiency versus other inborn errors of immunity. Front Immunol 2021;12:720025.
- Pai SY, Lurain K, Yarchoan R. How immunodeficiency can lead to malignancy. Hematology (Am Soc Hematol Educ Program) 2021;2021:287-95. https://doi.org/10.1182/hematology.2021000261
- Gasser S. DNA damage response and development of targeted cancer treatments. Ann Med 2007;39:457-64. https://doi.org/10.1080/07853890701436773
- Mortaz E, Tabarsi P, Mansouri D, Khosravi A, Garssen J, Velayati A, et al. Cancers related to immunodeficiencies: update and perspectives. Front Immunol 2016;7:365.
- Tiri A, Masetti R, Conti F, Tignanelli A, Turrini E, Bertolini P, et al. Inborn errors of immunity and cancer. Biology (Basel) 2021;10:10.
- Kwon WK, Kim JA, Park JH, Kim DR, Park SE, Kim YJ, et al. Case report: novel splicing variant in SH2D1A in a patient with X-linked lymphoproliferative syndrome type 1. Front Pediatr 2022;10:812590.
- Filipovich AH, Mathur A, Kamat D, Shapiro RS. Primary immunodeficiencies: genetic risk factors for lymphoma. Cancer Res 1992;52:5465s-5467s.
- Mueller BU, Pizzo PA. Cancer in children with primary or secondary immunodeficiencies. J Pediatr 1995;126:1-10. https://doi.org/10.1016/S0022-3476(95)70491-4
- Ioachim HL. The opportunistic tumors of immune deficiency. Adv Cancer Res 1990;54:301-17. https://doi.org/10.1016/S0065-230X(08)60815-5
- Jung KW, Kang MJ, Park EH, Yun EH, Kim HJ, Kong HJ, et al. Prediction of cancer incidence and mortality in Korea, 2023. Cancer Res Treat 2023;55:400-7. https://doi.org/10.4143/crt.2023.448
- National Cancer Information Center. Cancer incidence rate by age group [Internet]. Goyang: National Cancer Information Center; 2023 [cited 2023 Dec]. Available from: https://www.cancer.go.kr/lay1/S1T639C642/contents.do.
- Mayor PC, Eng KH, Singel KL, Abrams SI, Odunsi K, Moysich KB, et al. Cancer in primary immunodeficiency diseases: cancer incidence in the United States Immune Deficiency Network Registry. J Allergy Clin Immunol 2018;141:1028-35. https://doi.org/10.1016/j.jaci.2017.05.024
- Salavoura K, Kolialexi A, Tsangaris G, Mavrou A. Development of cancer in patients with primary immunodeficiencies. Anticancer Res 2008;28:1263-9.
- Jiang Y, Firan M, Nandiwada SL, Reyes A, Marsh RA, Vogel TP, et al. The natural history of X-linked lymphoproliferative disease (XLP1): lessons from a long-term survivor. Case Reports Immunol 2020;2020:8841571.
- Tangye SG. XLP: clinical features and molecular etiology due to mutations in SH2D1A encoding SAP. J Clin Immunol 2014;34:772-9. https://doi.org/10.1007/s10875-014-0083-7
- Purtilo DT, Grierson HL. Methods of detection of new families with X-linked lymphoproliferative disease. Cancer Genet Cytogenet 1991;51:143-53. https://doi.org/10.1016/0165-4608(91)90127-G
- Panchal N, Booth C, Cannons JL, Schwartzberg PL. X-linked lymphoproliferative disease type 1: a clinical and molecular perspective. Front Immunol 2018;9:666.
- Tomomasa D, Booth C, Bleesing JJ, Isoda T, Kobayashi C, Koike K, et al. Preemptive hematopoietic cell transplantation for asymptomatic patients with X-linked lymphoproliferative syndrome type 1. Clin Immunol 2022;237:108993.
- Thouenon R, Moreno-Corona N, Poggi L, Durandy A, Kracker S. Activated PI3Kinase delta syndrome-a multifaceted disease. Front Pediatr 2021;9:652405.
- Singh A, Joshi V, Jindal AK, Mathew B, Rawat A. An updated review on activated PI3 kinase delta syndrome (APDS). Genes Dis 2019;7:67-74. https://doi.org/10.1016/j.gendis.2019.09.015
- Redenbaugh V, Coulter T. Disorders related to PI3Kδ hyperactivation: characterizing the clinical and immunological features of activated PI3-kinase delta syndromes. Front Pediatr 2021;9:702872.
- Jamee M, Moniri S, Zaki-Dizaji M, Olbrich P, Yazdani R, Jadidi-Niaragh F, et al. Clinical, immunological, and genetic features in patients with activated PI3Kδ syndrome (APDS): a systematic review. Clin Rev Allergy Immunol 2020;59:323-33. https://doi.org/10.1007/s12016-019-08738-9
- Coulter TI, Chandra A, Bacon CM, Babar J, Curtis J, Screaton N, et al. Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: a large patient cohort study. J Allergy Clin Immunol 2017;139:597-606.e4. https://doi.org/10.1016/j.jaci.2016.06.021
- Maccari ME, Abolhassani H, Aghamohammadi A, Aiuti A, Aleinikova O, Bangs C, et al. Disease evolution and response to rapamycin in activated phosphoinositide 3-kinase δ syndrome: the European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry. Front Immunol 2018;9:543.
- Wentink M, Dalm V, Lankester AC, van Schouwenburg PA, Scholvinck L, Kalina T, et al. Genetic defects in PI3Kδ affect B-cell differentiation and maturation leading to hypogammaglobulineamia and recurrent infections. Clin Immunol 2017;176:77-86. https://doi.org/10.1016/j.clim.2017.01.004
- Kuehn HS, Ouyang W, Lo B, Deenick EK, Niemela JE, Avery DT, et al. Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4. Science 2014;345:1623-7. https://doi.org/10.1126/science.1255904
- Schubert D, Bode C, Kenefeck R, Hou TZ, Wing JB, Kennedy A, et al. Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations. Nat Med 2014;20:1410-6. https://doi.org/10.1038/nm.3746
- Kucuk ZY, Charbonnier LM, McMasters RL, Chatila T, Bleesing JJ. CTLA-4 haploinsufficiency in a patient with an autoimmune lymphoproliferative disorder. J Allergy Clin Immunol 2017;140:862-864.e4. https://doi.org/10.1016/j.jaci.2017.02.032
- Egg D, Rump IC, Mitsuiki N, Rojas-Restrepo J, Maccari ME, Schwab C, et al. Therapeutic options for CTLA-4 insufficiency. J Allergy Clin Immunol 2022;149:736-46. https://doi.org/10.1016/j.jaci.2021.04.039
- Egg D, Schwab C, Gabrysch A, Arkwright PD, Cheesman E, Giulino-Roth L, et al. Increased risk for malignancies in 131 affected CTLA4 mutation carriers. Front Immunol 2018;9:2012.
- Bonilla FA, Barlan I, Chapel H, Costa-Carvalho BT, Cunningham-Rundles C, de la Morena MT, et al. International consensus document (ICON): common variable immunodeficiency disorders. J Allergy Clin Immunol Pract 2016;4:38-59. https://doi.org/10.1016/j.jaip.2015.07.025
- Chapel H, Lucas M, Lee M, Bjorkander J, Webster D, Grimbacher B, et al. Common variable immunodeficiency disorders: division into distinct clinical phenotypes. Blood 2008;112:277-86. https://doi.org/10.1182/blood-2007-11-124545
- Mellemkjaer L, Hammarstrom L, Andersen V, Yuen J, Heilmann C, Barington T, et al. Cancer risk among patients with IgA deficiency or common variable immunodeficiency and their relatives: a combined Danish and Swedish study. Clin Exp Immunol 2002;130:495-500. https://doi.org/10.1046/j.1365-2249.2002.02004.x