1 Booth C, "X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency : a multicenter study on the manifestations, management and outcome of the disease" 117 : 53-62, 2011
2 Speckmann C, "X-linked inhibitor of apoptosis(XIAP)deficiency : the spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis" 149 : 133-141, 2013
3 Jo EK, "X-linked hyper-IgM syndrome associated with Cryptosporidium parvum and Cryptococcus neoformans infections : the first case with molecular diagnosis in Korea" 17 : 116-120, 2002
4 Marciano BE, "X-linked carriers of chronic granulomatous disease : illness, lyonization, and stability" 141 : 365-371, 2018
5 조은경 ; Kumaki Satoru ; Du Wei ; Tsuchiya Shigeru ; Kanegane Hirokazu ; 송창화 ; Noh Ha Young ; Kim Young Ok ; Kim So Yeon ; Chung Hae Yul ; 김윤하 ; 국훈, "X-linked Severe Combined Immunodeficiency Syndrome: The First Korean Case with gamma c Chain Gene Mutation and Subsequent Genetic Counseling" 대한의학회 19 (19): 123-126, 2004
6 Slatter MA, "Treosulfan-based conditioning for inborn errors of immunity" 12 : 1-19, 2021
7 Morillo-Gutierrez B, "Treosulfan-based conditioning for allogeneic HSCT in children with chronic granulomatous disease : a multicenter experience" 128 : 440-448, 2016
8 Hershfield MS, "Treatment of adenosine deaminase deficiency with polyethylene glycol-modified adenosine deaminase" 316 : 589-596, 1987
9 Pai SY, "Transplantation outcomes for severe combined immunodeficiency, 2000-2009" 371 : 434-446, 2014
10 Hartz B, "The minimum required level of donor chimerism in hereditary hemophagocytic lymphohistiocytosis" 127 : 3281-3290, 2016
1 Booth C, "X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency : a multicenter study on the manifestations, management and outcome of the disease" 117 : 53-62, 2011
2 Speckmann C, "X-linked inhibitor of apoptosis(XIAP)deficiency : the spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis" 149 : 133-141, 2013
3 Jo EK, "X-linked hyper-IgM syndrome associated with Cryptosporidium parvum and Cryptococcus neoformans infections : the first case with molecular diagnosis in Korea" 17 : 116-120, 2002
4 Marciano BE, "X-linked carriers of chronic granulomatous disease : illness, lyonization, and stability" 141 : 365-371, 2018
5 조은경 ; Kumaki Satoru ; Du Wei ; Tsuchiya Shigeru ; Kanegane Hirokazu ; 송창화 ; Noh Ha Young ; Kim Young Ok ; Kim So Yeon ; Chung Hae Yul ; 김윤하 ; 국훈, "X-linked Severe Combined Immunodeficiency Syndrome: The First Korean Case with gamma c Chain Gene Mutation and Subsequent Genetic Counseling" 대한의학회 19 (19): 123-126, 2004
6 Slatter MA, "Treosulfan-based conditioning for inborn errors of immunity" 12 : 1-19, 2021
7 Morillo-Gutierrez B, "Treosulfan-based conditioning for allogeneic HSCT in children with chronic granulomatous disease : a multicenter experience" 128 : 440-448, 2016
8 Hershfield MS, "Treatment of adenosine deaminase deficiency with polyethylene glycol-modified adenosine deaminase" 316 : 589-596, 1987
9 Pai SY, "Transplantation outcomes for severe combined immunodeficiency, 2000-2009" 371 : 434-446, 2014
10 Hartz B, "The minimum required level of donor chimerism in hereditary hemophagocytic lymphohistiocytosis" 127 : 3281-3290, 2016
11 Blaese RM, "T lymphocyte-directed gene therapy for ADA-SCID : initial trial results after 4 years" 270 : 475-480, 1995
12 Son Sohee ; 강지만 ; Hahn Younsoo ; 안강모 ; 김예진, "Systematic review of literature and analysis of big data from the National Health Insurance System on primary immunodeficiencies in Korea" 대한소아청소년과학회 64 (64): 141-148, 2021
13 Marsh RA, "Reduced-intensity conditioning hematopoietic cell transplantation is an effective treatment for patients with SLAM-associated protein deficiency/X-linked lymphoproliferative disease type 1" 20 : 1641-1645, 2014
14 Bousfiha AA, "Primary immunodeficiency diseases worldwide : more common than generally thought" 33 : 1-7, 2013
15 Meyts I, "Primary immunodeficiencies : a decade of progress and a promising future" 11 : 625753-, 2021
16 임정우 ; 김경효 ; 김동수 ; 김봉성 ; Jung Soo Kim ; Chang-HwiKim ; 김황민 ; 박희주 ; Ki Soo Pai ; 손병관 ; Kyung-Sue Shin ; Moo Young Oh ; 우영종 ; 유영 ; 이건수 ; 이경일 ; 이종국 ; 이준성 ; Eun Hee Chung ; 최은화 ; 한윤수 ; Hyun Young Park ; 김중곤, "Prevalence of Primary Immunodeficiency in Korea" 대한의학회 27 (27): 788-793, 2012
17 Marsh RA, "Practice pattern changes and improvements in hematopoietic cell transplantation for primary immunodeficiencies" 142 : 2004-2007, 2018
18 Canna SW, "Pediatric hemophagocytic lymphohistiocytosis" 135 : 1332-1343, 2020
19 King JR, "Newborn screening for primary immunodeficiency diseases : history, current and future practice" 38 : 56-66, 2018
20 Elfeky R, "New graft manipulation strategies improve the outcome of mismatched stem cell transplantation in children with primary immunodeficiencies" 144 : 280-293, 2019
21 de la Morena MT, "Long-term outcomes of 176 patients with X-linked hyper-IgM syndrome treated with or without hematopoietic cell transplantation" 139 : 1282-1292, 2017
22 Gennery AR, "Long term outcome and immune function after hematopoietic stem cell transplantation for primary immunodeficiency" 7 : 381-, 2019
23 Hacein-Bey-Abina S, "Insertional oncogenesis in 4 patients after retrovirus-mediated gene therapy of SCID-X1" 118 : 3132-3142, 2008
24 Naik S, "Incorporation of thiotepa in a reduced intensity conditioning regimen may improve engraftment after transplant for HLH" 188 : e84-e87, 2020
25 Gatti RA, "Immunological reconstitution of sex-linked lymphopenic immunological deficiency" 2 : 1366-1369, 1968
26 Choi SH, "Immunohematologic reconstitution after allogeneic bone marrow transplantation in a patient with Wiskott-Aldrich syndrome" 1 : 65-72, 1997
27 Notarangelo LD, "Human inborn errors of immunity : an expanding universe" 5 : eabb1662-, 2020
28 Tangye SG, "Human inborn errors of immunity : 2022 update on the classification from the International Union of Immunological Societies Expert Committee" 1-35, 2022
29 Tangye SG, "Human inborn errors of immunity : 2019 update on the classification from the International Union of Immunological Societies Expert Committee" 40 : 24-64, 2020
30 Boushfiha A, "Human inborn errors of immunity : 2019 update of the IUIS phenotypical classification" 40 : 66-81, 2020
31 Rivers E, "How I manage patients with Wiskott Aldrich syndrome" 185 : 647-655, 2019
32 Castagnoli R, "Hematopoietic stem cell transplantation in primary immunodeficiency diseases : current status and future perspectives" 7 : 295-, 2019
33 Ono S, "Hematopoietic stem cell transplantation for XIAP deficiency in Japan" 37 : 85-91, 2017
34 Ferrua F, "Hematopoietic stem cell transplantation for CD40 ligand deficiency : results from an EBMT/ESID-IEWP-SCETIDE-PIDTC study" 143 : 2238-2253, 2019
35 Lankester AC, "Hematopoietic cell transplantation in severe combined immunodeficiency : the SCETIDE 2006–2014 European cohort" 149 : 1744-1754, 2022
36 Slatter MA, "Hematopoietic cell transplantation in primary immunodeficiency – conventional and emerging indications" 14 : 103-114, 2018
37 Chiesa R, "Hematopoietic cell transplantation in chronic granulomatous disease : a study of 712children and adults" 136 : 1201-1211, 2020
38 Neven B, "Haploidentical hematopoietic stem cell transplantation with post-transplant cyclophosphamide for primary immunodeficiencies and inherited disorders in children" 25 : 1363-1373, 2019
39 Quinn, J, "Growth in diagnosis and treatment of primary immunodeficiency within the global Jeffrey Modell Centers Network" 18 : 19-, 2022
40 Fischer A, "Gene therapy for severe combined immunodeficiencies and beyond" 217 : e20190607-, 2020
41 Braun CJ, "Gene therapy for Wiskott-Aldrich syndrome-long-term efficacy and genotoxicity" 6 : 227ra33-, 2014
42 Burroughs LM, "Excellent outcomes following hematopoietic cell transplantation for Wiskott-Aldrich syndrome : a PIDTC report" 135 : 2094-2105, 2020
43 Rao K, "Effect of stem cell source on long-term chimerism and event-free survival in children with primary immunodeficiency disorders after fludarabine and melphalan conditioning regimen" 138 : 1152-1160, 2016
44 Lankester AC, "EBMT/ESID inborn errors working party guidelines for hematopoietic stem cell transplantation for inborn errors of immunity" 56 : 2052-2062, 2021
45 Nishimura A, "Conditioning regimens for inborn errors of immunity : current perspectives and future strategies" 116 : 7-15, 2022
46 Marsh RA, "Comparison of hematopoietic cell transplant conditioning regimens for hemophagocytic lymphohistiocytosis disorders" 149 : 1097-1104, 2022
47 Touzot F, "CD45RA depletion in HLA-mismatched allogeneic hematopoietic stem cell transplantation for primary combined immunodeficiency : a preliminary study" 135 : 1303-1309, 2015
48 Fischer A, "Autoimmune and inflammatory manifestations occur frequently in patients with primary immunodeficiencies" 140 : 1388-1393, 2017
49 Bartelink IH, "Association of busulfan exposure with survival and toxicity after haemopoietic cell transplantation in children and young adults : a multicentre, retrospective cohort analysis" 3 : e526-e536, 2016
50 Marsh RA, "Allogeneic hematopoietic cell transplantation for XIAP deficiency : an international survey reveals poor outcomes" 121 : 877-883, 2013
51 Bruton OC, "Agammaglobulinemia" 9 : 722-728, 1952
52 Seligmann M, "A proposed classification of primary immunologic deficiencies" 45 : 817-825, 1968
53 Porteus MH, "A new class of medicines through DNA editing" 380 : 947-959, 2019