메뉴 건너뛰기




Volumn 142, Issue 6, 2018, Pages 1932-1946

Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4–insufficient subjects

(81)  Schwab, Charlotte a   Gabrysch, Annemarie a   Olbrich, Peter b   Patiño, Virginia c   Warnatz, Klaus a   Wolff, Daniel d   Hoshino, Akihiro e   Kobayashi, Masao f   Imai, Kohsuke e   Takagi, Masatoshi e   Dybedal, Ingunn g   Haddock, Jamanda A h   Sansom, David M i   Lucena, Jose M b   Seidl, Maximilian a   Schmitt Graeff, Annette a   Reiser, Veronika a,j   Emmerich, Florian a   Frede, Natalie a   Bulashevska, Alla a   more..


Author keywords

abatacept; autoimmunity; common variable immunodeficiency; Cytotoxic T lymphocyte antigen 4; hematopoietic stem cell transplantation; hypogammaglobulinemia; immune dysregulation; primary immunodeficiency; sirolimus

Indexed keywords

ABATACEPT; BELATACEPT; CYTOTOXIC T LYMPHOCYTE ANTIGEN 4; IMMUNOGLOBULIN A; IMMUNOGLOBULIN G; IMMUNOGLOBULIN M; INTERLEUKIN 2 RECEPTOR; METHYLPREDNISOLONE; PREDNISOLONE; RAPAMYCIN; RITUXIMAB; TRANSCRIPTION FACTOR FOXP3; CTLA4 PROTEIN, HUMAN;

EID: 85048319931     PISSN: 00916749     EISSN: 10976825     Source Type: Journal    
DOI: 10.1016/j.jaci.2018.02.055     Document Type: Article
Times cited : (343)

References (42)
  • 1
    • 84907909000 scopus 로고    scopus 로고
    • Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4
    • Kuehn, H.S., Ouyang, W., Lo, B., Deenick, E.K., Niemela, J.E., Avery, D.T., et al. Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4. Science 345 (2014), 1623–1627.
    • (2014) Science , vol.345 , pp. 1623-1627
    • Kuehn, H.S.1    Ouyang, W.2    Lo, B.3    Deenick, E.K.4    Niemela, J.E.5    Avery, D.T.6
  • 2
    • 84938070889 scopus 로고    scopus 로고
    • Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations
    • Schubert, D., Bode, C., Kenefeck, R., Hou, T.Z., Wing, J.B., Kennedy, A., et al. Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations. Nat Med 20 (2014), 1410–1416.
    • (2014) Nat Med , vol.20 , pp. 1410-1416
    • Schubert, D.1    Bode, C.2    Kenefeck, R.3    Hou, T.Z.4    Wing, J.B.5    Kennedy, A.6
  • 3
    • 84953427271 scopus 로고    scopus 로고
    • Early-onset Crohn's disease and autoimmunity associated with a variant in CTLA-4
    • Zeissig, S., Petersen, B.S., Tomczak, M., Melum, E., Huc-Claustre, E., Dougan, S.K., et al. Early-onset Crohn's disease and autoimmunity associated with a variant in CTLA-4. Gut 64 (2015), 1889–1897.
    • (2015) Gut , vol.64 , pp. 1889-1897
    • Zeissig, S.1    Petersen, B.S.2    Tomczak, M.3    Melum, E.4    Huc-Claustre, E.5    Dougan, S.K.6
  • 4
    • 0034679560 scopus 로고    scopus 로고
    • Immunologic self-tolerance maintained by CD25(+)CD4(+) regulatory T cells constitutively expressing cytotoxic T lymphocyte-associated antigen 4
    • Takahashi, T., Tagami, T., Yamazaki, S., Uede, T., Shimizu, J., Sakaguchi, N., et al. Immunologic self-tolerance maintained by CD25(+)CD4(+) regulatory T cells constitutively expressing cytotoxic T lymphocyte-associated antigen 4. J Exp Med 192 (2000), 303–310.
    • (2000) J Exp Med , vol.192 , pp. 303-310
    • Takahashi, T.1    Tagami, T.2    Yamazaki, S.3    Uede, T.4    Shimizu, J.5    Sakaguchi, N.6
  • 5
    • 0034679567 scopus 로고    scopus 로고
    • Cytotoxic T lymphocyte-associated antigen 4 plays an essential role in the function of CD25(+)CD4(+) regulatory cells that control intestinal inflammation
    • Read, S., Malmstrom, V., Powrie, F., Cytotoxic T lymphocyte-associated antigen 4 plays an essential role in the function of CD25(+)CD4(+) regulatory cells that control intestinal inflammation. J Exp Med 192 (2000), 295–302.
    • (2000) J Exp Med , vol.192 , pp. 295-302
    • Read, S.1    Malmstrom, V.2    Powrie, F.3
  • 6
    • 0347785480 scopus 로고    scopus 로고
    • Control of regulatory T cell development by the transcription factor Foxp3
    • Hori, S., Nomura, T., Sakaguchi, S., Control of regulatory T cell development by the transcription factor Foxp3. Science 299 (2003), 1057–1061.
    • (2003) Science , vol.299 , pp. 1057-1061
    • Hori, S.1    Nomura, T.2    Sakaguchi, S.3
  • 7
    • 63049090504 scopus 로고    scopus 로고
    • CD4+ regulatory T cells require CTLA-4 for the maintenance of systemic tolerance
    • Friedline, R.H., Brown, D.S., Nguyen, H., Kornfeld, H., Lee, J., Zhang, Y., et al. CD4+ regulatory T cells require CTLA-4 for the maintenance of systemic tolerance. J Exp Med 206 (2009), 421–434.
    • (2009) J Exp Med , vol.206 , pp. 421-434
    • Friedline, R.H.1    Brown, D.S.2    Nguyen, H.3    Kornfeld, H.4    Lee, J.5    Zhang, Y.6
  • 9
    • 84884287627 scopus 로고    scopus 로고
    • Treg and CTLA-4: two intertwining pathways to immune tolerance
    • Walker, L.S., Treg and CTLA-4: two intertwining pathways to immune tolerance. J Autoimmun 45 (2013), 49–57.
    • (2013) J Autoimmun , vol.45 , pp. 49-57
    • Walker, L.S.1
  • 11
    • 65349151316 scopus 로고    scopus 로고
    • Regulating the regulators: costimulatory signals control the homeostasis and function of regulatory T cells
    • Bour-Jordan, H., Bluestone, J.A., Regulating the regulators: costimulatory signals control the homeostasis and function of regulatory T cells. Immunol Rev 229 (2009), 41–66.
    • (2009) Immunol Rev , vol.229 , pp. 41-66
    • Bour-Jordan, H.1    Bluestone, J.A.2
  • 12
    • 82255192901 scopus 로고    scopus 로고
    • The emerging role of CTLA4 as a cell-extrinsic regulator of T cell responses
    • Walker, L.S., Sansom, D.M., The emerging role of CTLA4 as a cell-extrinsic regulator of T cell responses. Nat Rev Immunol 11 (2011), 852–863.
    • (2011) Nat Rev Immunol , vol.11 , pp. 852-863
    • Walker, L.S.1    Sansom, D.M.2
  • 13
    • 79955529454 scopus 로고    scopus 로고
    • Trans-endocytosis of CD80 and CD86: a molecular basis for the cell-extrinsic function of CTLA-4
    • Qureshi, O.S., Zheng, Y., Nakamura, K., Attridge, K., Manzotti, C., Schmidt, E.M., et al. Trans-endocytosis of CD80 and CD86: a molecular basis for the cell-extrinsic function of CTLA-4. Science 332 (2011), 600–603.
    • (2011) Science , vol.332 , pp. 600-603
    • Qureshi, O.S.1    Zheng, Y.2    Nakamura, K.3    Attridge, K.4    Manzotti, C.5    Schmidt, E.M.6
  • 14
    • 0035967157 scopus 로고    scopus 로고
    • Structural basis for co-stimulation by the human CTLA-4/B7-2 complex
    • Schwartz, J.C., Zhang, X., Fedorov, A.A., Nathenson, S.G., Almo, S.C., Structural basis for co-stimulation by the human CTLA-4/B7-2 complex. Nature 410 (2001), 604–608.
    • (2001) Nature , vol.410 , pp. 604-608
    • Schwartz, J.C.1    Zhang, X.2    Fedorov, A.A.3    Nathenson, S.G.4    Almo, S.C.5
  • 16
    • 84958170094 scopus 로고    scopus 로고
    • A patient with CTLA-4 haploinsufficiency presenting gastric cancer
    • Hayakawa, S., Okada, S., Tsumura, M., Sakata, S., Ueno, Y., Imai, K., et al. A patient with CTLA-4 haploinsufficiency presenting gastric cancer. J Clin Immunol 36 (2016), 28–32.
    • (2016) J Clin Immunol , vol.36 , pp. 28-32
    • Hayakawa, S.1    Okada, S.2    Tsumura, M.3    Sakata, S.4    Ueno, Y.5    Imai, K.6
  • 17
    • 85040119484 scopus 로고    scopus 로고
    • Study of an extended family with CTLA-4 deficiency suggests a CD28/CTLA-4 independent mechanism responsible for differences in disease manifestations and severity
    • Hou, T.Z., Olbrich, P., Soto, J.M.L., Sanchez, B., Moreno, P.S., Borte, S., et al. Study of an extended family with CTLA-4 deficiency suggests a CD28/CTLA-4 independent mechanism responsible for differences in disease manifestations and severity. Clin Immunol 188 (2018), 94–102.
    • (2018) Clin Immunol , vol.188 , pp. 94-102
    • Hou, T.Z.1    Olbrich, P.2    Soto, J.M.L.3    Sanchez, B.4    Moreno, P.S.5    Borte, S.6
  • 19
    • 85007367729 scopus 로고    scopus 로고
    • Vedolizumab as a successful treatment of CTLA-4-associated autoimmune enterocolitis
    • Navarini, A.A., Hruz, P., Berger, C.T., Hou, T.Z., Schwab, C., Gabrysch, A., et al. Vedolizumab as a successful treatment of CTLA-4-associated autoimmune enterocolitis. J Allergy Clin Immunol 139 (2017), 1043–1046.e5.
    • (2017) J Allergy Clin Immunol , vol.139 , pp. 1043-1046.e5
    • Navarini, A.A.1    Hruz, P.2    Berger, C.T.3    Hou, T.Z.4    Schwab, C.5    Gabrysch, A.6
  • 20
    • 85057085745 scopus 로고    scopus 로고
    • European Society for Immunodeficiencies. New clinical diagnosis criteria for the ESID Registry. Available at: Accessed May 16.
    • European Society for Immunodeficiencies. New clinical diagnosis criteria for the ESID Registry. Available at: https://esid.org/Working-Parties/Registry/Diagnosis-criteria. Accessed May 16, 2018.
    • (2018)
  • 21
    • 84948581722 scopus 로고    scopus 로고
    • Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015
    • Picard, C., Al-Herz, W., Bousfiha, A., Casanova, J.L., Chatila, T., Conley, M.E., et al. Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015. J Clin Immunol 35 (2015), 696–726.
    • (2015) J Clin Immunol , vol.35 , pp. 696-726
    • Picard, C.1    Al-Herz, W.2    Bousfiha, A.3    Casanova, J.L.4    Chatila, T.5    Conley, M.E.6
  • 22
    • 85015847706 scopus 로고    scopus 로고
    • Identifying functional defects in patients with immune dysregulation due to LRBA and CTLA-4 mutations
    • Hou, T.Z., Verma, N., Wanders, J., Kennedy, A., Soskic, B., Janman, D., et al. Identifying functional defects in patients with immune dysregulation due to LRBA and CTLA-4 mutations. Blood 129 (2017), 1458–1468.
    • (2017) Blood , vol.129 , pp. 1458-1468
    • Hou, T.Z.1    Verma, N.2    Wanders, J.3    Kennedy, A.4    Soskic, B.5    Janman, D.6
  • 23
    • 84938099421 scopus 로고    scopus 로고
    • Autoimmune disease. Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy
    • Lo, B., Zhang, K., Lu, W., Zheng, L., Zhang, Q., Kanellopoulou, C., et al. Autoimmune disease. Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy. Science 349 (2015), 436–440.
    • (2015) Science , vol.349 , pp. 436-440
    • Lo, B.1    Zhang, K.2    Lu, W.3    Zheng, L.4    Zhang, Q.5    Kanellopoulou, C.6
  • 24
    • 77957746866 scopus 로고    scopus 로고
    • Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH International Workshop
    • Oliveira, J.B., Bleesing, J.J., Dianzani, U., Fleisher, T.A., Jaffe, E.S., Lenardo, M.J., et al. Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH International Workshop. Blood 116 (2010), e35–e40.
    • (2010) Blood , vol.116 , pp. e35-e40
    • Oliveira, J.B.1    Bleesing, J.J.2    Dianzani, U.3    Fleisher, T.A.4    Jaffe, E.S.5    Lenardo, M.J.6
  • 25
    • 84867742980 scopus 로고    scopus 로고
    • Immune dysregulation, polyendocrinopathy, enteropathy, x-linked syndrome: a paradigm of immunodeficiency with autoimmunity
    • Barzaghi, F., Passerini, L., Bacchetta, R., Immune dysregulation, polyendocrinopathy, enteropathy, x-linked syndrome: a paradigm of immunodeficiency with autoimmunity. Front Immunol, 3, 2012, 211.
    • (2012) Front Immunol , vol.3 , pp. 211
    • Barzaghi, F.1    Passerini, L.2    Bacchetta, R.3
  • 26
    • 84920449880 scopus 로고    scopus 로고
    • Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like disorder caused by loss-of-function mutations in LRBA
    • Charbonnier, L.M., Janssen, E., Chou, J., Ohsumi, T.K., Keles, S., Hsu, J.T., et al. 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 (2015), 217–227.
    • (2015) J Allergy Clin Immunol , vol.135 , pp. 217-227
    • Charbonnier, L.M.1    Janssen, E.2    Chou, J.3    Ohsumi, T.K.4    Keles, S.5    Hsu, J.T.6
  • 27
  • 28
    • 0037385330 scopus 로고    scopus 로고
    • Foxp3 programs the development and function of CD4+CD25+ regulatory T cells
    • Fontenot, J.D., Gavin, M.A., Rudensky, A.Y., Foxp3 programs the development and function of CD4+CD25+ regulatory T cells. Nat Immunol 4 (2003), 330–336.
    • (2003) Nat Immunol , vol.4 , pp. 330-336
    • Fontenot, J.D.1    Gavin, M.A.2    Rudensky, A.Y.3
  • 31
    • 84921525891 scopus 로고    scopus 로고
    • Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations
    • Milner, J.D., Vogel, T.P., Forbes, L., Ma, C.A., Stray-Pedersen, A., Niemela, J.E., et al. Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations. Blood 125 (2015), 591–599.
    • (2015) Blood , vol.125 , pp. 591-599
    • Milner, J.D.1    Vogel, T.P.2    Forbes, L.3    Ma, C.A.4    Stray-Pedersen, A.5    Niemela, J.E.6
  • 32
    • 35348876040 scopus 로고    scopus 로고
    • IPEX, FOXP3 and regulatory T-cells: a model for autoimmunity
    • Ochs, H.D., Gambineri, E., Torgerson, T.R., IPEX, FOXP3 and regulatory T-cells: a model for autoimmunity. Immunol Res 38 (2007), 112–121.
    • (2007) Immunol Res , vol.38 , pp. 112-121
    • Ochs, H.D.1    Gambineri, E.2    Torgerson, T.R.3
  • 34
    • 84943819670 scopus 로고    scopus 로고
    • Long-term remission after allogeneic hematopoietic stem cell transplantation in LPS-responsive beige-like anchor (LRBA) deficiency
    • e1-8
    • Seidel, M.G., Hirschmugl, T., Gamez-Diaz, L., Schwinger, W., Serwas, N., Deutschmann, A., et al. Long-term remission after allogeneic hematopoietic stem cell transplantation in LPS-responsive beige-like anchor (LRBA) deficiency. J Allergy Clin Immunol 135 (2015), 1384–1390 e1-8.
    • (2015) J Allergy Clin Immunol , vol.135 , pp. 1384-1390
    • Seidel, M.G.1    Hirschmugl, T.2    Gamez-Diaz, L.3    Schwinger, W.4    Serwas, N.5    Deutschmann, A.6
  • 36
    • 84960903848 scopus 로고    scopus 로고
    • Infancy-onset T1DM, short stature, and severe immunodysregulation in two siblings with a homozygous LRBA mutation
    • Schreiner, F., Plamper, M., Dueker, G., Schoenberger, S., Gamez-Diaz, L., Grimbacher, B., et al. Infancy-onset T1DM, short stature, and severe immunodysregulation in two siblings with a homozygous LRBA mutation. J Clin Endocrinol Metab 101 (2016), 898–904.
    • (2016) J Clin Endocrinol Metab , vol.101 , pp. 898-904
    • Schreiner, F.1    Plamper, M.2    Dueker, G.3    Schoenberger, S.4    Gamez-Diaz, L.5    Grimbacher, B.6
  • 37
    • 84864461405 scopus 로고    scopus 로고
    • LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency
    • Alangari, A., Alsultan, A., Adly, N., Massaad, M.J., Kiani, I.S., Aljebreen, A., et al. LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency. J Allergy Clin Immunol 130 (2012), 481–488.e2.
    • (2012) J Allergy Clin Immunol , vol.130 , pp. 481-488.e2
    • Alangari, A.1    Alsultan, A.2    Adly, N.3    Massaad, M.J.4    Kiani, I.S.5    Aljebreen, A.6
  • 39
    • 84870296631 scopus 로고    scopus 로고
    • LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia
    • Burns, S.O., Zenner, H.L., Plagnol, V., Curtis, J., Mok, K., Eisenhut, M., et al. LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia. J Allergy Clin Immunol 130 (2012), 1428–1432.
    • (2012) J Allergy Clin Immunol , vol.130 , pp. 1428-1432
    • Burns, S.O.1    Zenner, H.L.2    Plagnol, V.3    Curtis, J.4    Mok, K.5    Eisenhut, M.6
  • 40
    • 84963983929 scopus 로고    scopus 로고
    • LRBA deficiency with autoimmunity and early onset chronic erosive polyarthritis
    • Levy, E., Stolzenberg, M.C., Bruneau, J., Breton, S., Neven, B., Sauvion, S., et al. LRBA deficiency with autoimmunity and early onset chronic erosive polyarthritis. Clin Immunol 168 (2016), 88–93.
    • (2016) Clin Immunol , vol.168 , pp. 88-93
    • Levy, E.1    Stolzenberg, M.C.2    Bruneau, J.3    Breton, S.4    Neven, B.5    Sauvion, S.6
  • 41
    • 84958173927 scopus 로고    scopus 로고
    • A successful HSCT in a girl with novel LRBA mutation with refractory celiac disease
    • Sari, S., Dogu, F., Hwa, V., Haskologlu, S., Dauber, A., Rosenfeld, R., et al. A successful HSCT in a girl with novel LRBA mutation with refractory celiac disease. J Clin Immunol 36 (2016), 8–11.
    • (2016) J Clin Immunol , vol.36 , pp. 8-11
    • Sari, S.1    Dogu, F.2    Hwa, V.3    Haskologlu, S.4    Dauber, A.5    Rosenfeld, R.6
  • 42
    • 84965058557 scopus 로고    scopus 로고
    • Successful hematopoietic stem cell transplantation in a patient with LPS-responsive beige-like anchor (LRBA) gene mutation
    • Tesi, B., Priftakis, P., Lindgren, F., Chiang, S.C., Kartalis, N., Lofstedt, A., et al. Successful hematopoietic stem cell transplantation in a patient with LPS-responsive beige-like anchor (LRBA) gene mutation. J Clin Immunol 36 (2016), 480–489.
    • (2016) J Clin Immunol , vol.36 , pp. 480-489
    • Tesi, B.1    Priftakis, P.2    Lindgren, F.3    Chiang, S.C.4    Kartalis, N.5    Lofstedt, A.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.