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Volumn 141, Issue 2, 2018, Pages 704-717.e5

Hematopoietic stem cell transplantation in patients with gain-of-function signal transducer and activator of transcription 1 mutations

(35)  Leiding, Jennifer W a   Okada, Satoshi b   Hagin, David c   Abinun, Mario d,e   Shcherbina, Anna f   Balashov, Dmitry N f   Kim, Vy H D g   Ovadia, Adi g   Guthery, Stephen L h   Pulsipher, Michael i   Lilic, Desa e   Devlin, Lisa A j   Christie, Sharon j   Depner, Mark k   Fuchs, Sebastian k   van Royen Kerkhof, Annet l   Lindemans, Caroline l   Petrovic, Aleksandra c,m   Sullivan, Kathleen E n   Bunin, Nancy n   more..


Author keywords

chronic mucocutaneous candidiasis; gain of function; graft rejection; graft versus host disease; Hematopoietic stem cell transplantation; hemophagocytic lymphohistiocytosis; Janus kinase; signal transducer and activator of transcription

Indexed keywords

ALEMTUZUMAB; BUSULFAN; CYCLOPHOSPHAMIDE; ETOPOSIDE; FLUDARABINE; MELPHALAN; RITUXIMAB; RUXOLITINIB; STAT1 PROTEIN; THYMOCYTE ANTIBODY; TREOSULFAN; STAT1 PROTEIN, HUMAN;

EID: 85025832226     PISSN: 00916749     EISSN: 10976825     Source Type: Journal    
DOI: 10.1016/j.jaci.2017.03.049     Document Type: Article
Times cited : (130)

References (34)
  • 1
    • 84865308028 scopus 로고    scopus 로고
    • Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes
    • Boisson-Dupuis, S., Kong, X.F., Okada, S., Cypowyj, S., Puel, A., Abel, L., et al. Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes. Curr Opin Immunol 24 (2012), 364–378.
    • (2012) Curr Opin Immunol , vol.24 , pp. 364-378
    • Boisson-Dupuis, S.1    Kong, X.F.2    Okada, S.3    Cypowyj, S.4    Puel, A.5    Abel, L.6
  • 2
    • 84958172992 scopus 로고    scopus 로고
    • The extended clinical phenotype of 26 patients with chronic mucocutaneous candidiasis due to gain-of-function mutations in STAT1
    • Depner, M., Fuchs, S., Raabe, J., Frede, N., Glocker, C., Doffinger, R., et al. The extended clinical phenotype of 26 patients with chronic mucocutaneous candidiasis due to gain-of-function mutations in STAT1. J Clin Immunol 36 (2016), 73–84.
    • (2016) J Clin Immunol , vol.36 , pp. 73-84
    • Depner, M.1    Fuchs, S.2    Raabe, J.3    Frede, N.4    Glocker, C.5    Doffinger, R.6
  • 3
    • 79961154447 scopus 로고    scopus 로고
    • Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis
    • Liu, L., Okada, S., Kong, X.F., Kreins, A.Y., Cypowyj, S., Abhyankar, A., et al. Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. J Exp Med 208 (2011), 1635–1648.
    • (2011) J Exp Med , vol.208 , pp. 1635-1648
    • Liu, L.1    Okada, S.2    Kong, X.F.3    Kreins, A.Y.4    Cypowyj, S.5    Abhyankar, A.6
  • 4
    • 84899791876 scopus 로고    scopus 로고
    • Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis
    • Mizoguchi, Y., Tsumura, M., Okada, S., Hirata, O., Minegishi, S., Imai, K., et al. Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis. J Leukoc Biol 95 (2014), 667–676.
    • (2014) J Leukoc Biol , vol.95 , pp. 667-676
    • Mizoguchi, Y.1    Tsumura, M.2    Okada, S.3    Hirata, O.4    Minegishi, S.5    Imai, K.6
  • 5
    • 84878592257 scopus 로고    scopus 로고
    • Gain-of-function STAT1 mutations are associated with PD-L1 overexpression and a defect in B-cell survival
    • Romberg, N., Morbach, H., Lawrence, M.G., Kim, S., Kang, I., Holland, S.M., et al. Gain-of-function STAT1 mutations are associated with PD-L1 overexpression and a defect in B-cell survival. J Allergy Clin Immunol 131 (2013), 1691–1693.
    • (2013) J Allergy Clin Immunol , vol.131 , pp. 1691-1693
    • Romberg, N.1    Morbach, H.2    Lawrence, M.G.3    Kim, S.4    Kang, I.5    Holland, S.M.6
  • 6
    • 84878568160 scopus 로고    scopus 로고
    • Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis
    • Sampaio, E.P., Hsu, A.P., Pechacek, J., Bax, H.I., Dias, D.L., Paulson, M.L., et al. Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis. J Allergy Clin Immunol 131 (2013), 1624–1634.
    • (2013) J Allergy Clin Immunol , vol.131 , pp. 1624-1634
    • Sampaio, E.P.1    Hsu, A.P.2    Pechacek, J.3    Bax, H.I.4    Dias, D.L.5    Paulson, M.L.6
  • 7
    • 84883157575 scopus 로고    scopus 로고
    • New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe
    • Soltesz, B., Toth, B., Shabashova, N., Bondarenko, A., Okada, S., Cypowyj, S., et al. New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe. J Med Genet 50 (2013), 567–578.
    • (2013) J Med Genet , vol.50 , pp. 567-578
    • Soltesz, B.1    Toth, B.2    Shabashova, N.3    Bondarenko, A.4    Okada, S.5    Cypowyj, S.6
  • 8
    • 84977482520 scopus 로고    scopus 로고
    • Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype
    • Toubiana, J., Okada, S., Hiller, J., Oleastro, M., Lagos Gomez, M., Aldave Becerra, J.C., et al. Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype. Blood 127 (2016), 3154–3164.
    • (2016) Blood , vol.127 , pp. 3154-3164
    • Toubiana, J.1    Okada, S.2    Hiller, J.3    Oleastro, M.4    Lagos Gomez, M.5    Aldave Becerra, J.C.6
  • 10
    • 84878556463 scopus 로고    scopus 로고
    • Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome
    • Uzel, G., Sampaio, E.P., Lawrence, M.G., Hsu, A.P., Hackett, M., Dorsey, M.J., et al. Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome. J Allergy Clin Immunol 131 (2013), 1611–1623.
    • (2013) J Allergy Clin Immunol , vol.131 , pp. 1611-1623
    • Uzel, G.1    Sampaio, E.P.2    Lawrence, M.G.3    Hsu, A.P.4    Hackett, M.5    Dorsey, M.J.6
  • 11
    • 84896729331 scopus 로고    scopus 로고
    • Fatal combined immunodeficiency associated with heterozygous mutation in STAT1
    • Sharfe, N., Nahum, A., Newell, A., Dadi, H., Ngan, B., Pereira, S.L., et al. Fatal combined immunodeficiency associated with heterozygous mutation in STAT1. J Allergy Clin Immunol 133 (2014), 807–817.
    • (2014) J Allergy Clin Immunol , vol.133 , pp. 807-817
    • Sharfe, N.1    Nahum, A.2    Newell, A.3    Dadi, H.4    Ngan, B.5    Pereira, S.L.6
  • 12
    • 84922388196 scopus 로고    scopus 로고
    • Use of ruxolitinib to successfully treat chronic mucocutaneous candidiasis caused by gain-of-function signal transducer and activator of transcription 1 (STAT1) mutation
    • Higgins, E., Al Shehri, T., McAleer, M.A., Conlon, N., Feighery, C., Lilic, D., et al. Use of ruxolitinib to successfully treat chronic mucocutaneous candidiasis caused by gain-of-function signal transducer and activator of transcription 1 (STAT1) mutation. J Allergy Clin Immunol 135 (2015), 551–553.
    • (2015) J Allergy Clin Immunol , vol.135 , pp. 551-553
    • Higgins, E.1    Al Shehri, T.2    McAleer, M.A.3    Conlon, N.4    Feighery, C.5    Lilic, D.6
  • 13
    • 85010905670 scopus 로고    scopus 로고
    • Ruxolitinib reverses dysregulated T helper cell responses and controls autoimmunity caused by a novel signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation
    • Weinacht, K.G., Charbonnier, L.M., Alroqi, F., Plant, A., Qiao, Q., Wu, H., et al. Ruxolitinib reverses dysregulated T helper cell responses and controls autoimmunity caused by a novel signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation. J Allergy Clin Immunol 139 (2017), 1629–1640.e2.
    • (2017) J Allergy Clin Immunol , vol.139 , pp. 1629-1640.e2
    • Weinacht, K.G.1    Charbonnier, L.M.2    Alroqi, F.3    Plant, A.4    Qiao, Q.5    Wu, H.6
  • 14
    • 84977138681 scopus 로고    scopus 로고
    • Severe early-onset combined immunodeficiency due to heterozygous gain-of-function mutations in STAT1
    • Baris, S., Alroqi, F., Kiykim, A., Karakoc-Aydiner, E., Ogulur, I., Ozen, A., et al. Severe early-onset combined immunodeficiency due to heterozygous gain-of-function mutations in STAT1. J Clin Immunol 36 (2016), 641–648.
    • (2016) J Clin Immunol , vol.36 , pp. 641-648
    • Baris, S.1    Alroqi, F.2    Kiykim, A.3    Karakoc-Aydiner, E.4    Ogulur, I.5    Ozen, A.6
  • 15
    • 84963938592 scopus 로고    scopus 로고
    • Ruxolitinib induces interleukin 17 and ameliorates chronic mucocutaneous candidiasis caused by STAT1 gain-of-function mutation
    • Mossner, R., Diering, N., Bader, O., Forkel, S., Overbeck, T., Gross, U., et al. Ruxolitinib induces interleukin 17 and ameliorates chronic mucocutaneous candidiasis caused by STAT1 gain-of-function mutation. Clin Infect Dis 62 (2016), 951–953.
    • (2016) Clin Infect Dis , vol.62 , pp. 951-953
    • Mossner, R.1    Diering, N.2    Bader, O.3    Forkel, S.4    Overbeck, T.5    Gross, U.6
  • 16
    • 84883238238 scopus 로고    scopus 로고
    • Continuous G-CSF therapy for isolated chronic mucocutaneous candidiasis: complete clinical remission with restoration of IL-17 secretion
    • Wildbaum, G., Shahar, E., Katz, R., Karin, N., Etzioni, A., Pollack, S., Continuous G-CSF therapy for isolated chronic mucocutaneous candidiasis: complete clinical remission with restoration of IL-17 secretion. J Allergy Clin Immunol 132 (2013), 761–764.
    • (2013) J Allergy Clin Immunol , vol.132 , pp. 761-764
    • Wildbaum, G.1    Shahar, E.2    Katz, R.3    Karin, N.4    Etzioni, A.5    Pollack, S.6
  • 17
    • 84962439610 scopus 로고    scopus 로고
    • Bone marrow transplantation for monoallelic signal transducer and activator of transcription 1 deficiency
    • Grunebaum, E., Kim, V.H., Somers, G.R., Shammas, A., Roifman, C.M., Bone marrow transplantation for monoallelic signal transducer and activator of transcription 1 deficiency. J Allergy Clin Immunol 138 (2016), 612–615.e1.
    • (2016) J Allergy Clin Immunol , vol.138 , pp. 612-615.e1
    • Grunebaum, E.1    Kim, V.H.2    Somers, G.R.3    Shammas, A.4    Roifman, C.M.5
  • 18
    • 0022508294 scopus 로고
    • Severe aplastic anemia associated with chronic mucocutaneous candidiasis. Immunologic and hematologic reconstitution after allogeneic bone marrow transplantation
    • Deeg, H.J., Lum, L.G., Sanders, J., Levy, G.J., Sullivan, K.M., Beatty, P., et al. Severe aplastic anemia associated with chronic mucocutaneous candidiasis. Immunologic and hematologic reconstitution after allogeneic bone marrow transplantation. Transplantation 41 (1986), 583–586.
    • (1986) Transplantation , vol.41 , pp. 583-586
    • Deeg, H.J.1    Lum, L.G.2    Sanders, J.3    Levy, G.J.4    Sullivan, K.M.5    Beatty, P.6
  • 19
    • 0029828826 scopus 로고    scopus 로고
    • Successful allogeneic bone marrow transplantation in severe chronic mucocutaneous candidiasis syndrome
    • Hoh, M.C., Lin, H.P., Chan, L.L., Lam, S.K., Successful allogeneic bone marrow transplantation in severe chronic mucocutaneous candidiasis syndrome. Bone Marrow Transplant 18 (1996), 797–800.
    • (1996) Bone Marrow Transplant , vol.18 , pp. 797-800
    • Hoh, M.C.1    Lin, H.P.2    Chan, L.L.3    Lam, S.K.4
  • 20
    • 84889053021 scopus 로고    scopus 로고
    • A 1-year-old girl with a gain-of-function STAT1 mutation treated with hematopoietic stem cell transplantation
    • Aldave, J.C., Cachay, E., Nunez, L., Chunga, A., Murillo, S., Cypowyj, S., et al. A 1-year-old girl with a gain-of-function STAT1 mutation treated with hematopoietic stem cell transplantation. J Clin Immunol 33 (2013), 1273–1275.
    • (2013) J Clin Immunol , vol.33 , pp. 1273-1275
    • Aldave, J.C.1    Cachay, E.2    Nunez, L.3    Chunga, A.4    Murillo, S.5    Cypowyj, S.6
  • 21
    • 85056365616 scopus 로고    scopus 로고
    • A mutation in the STAT1 DNA-binding domain associated with hemophagocytic lymphohistiocytosis
    • Faitelson, Y.B.A., Shroff, M., Grunebaum, E., Roifman, C.R., Naqvi, A., A mutation in the STAT1 DNA-binding domain associated with hemophagocytic lymphohistiocytosis. Lymphosign J 1 (2014), 1–9.
    • (2014) Lymphosign J , vol.1 , pp. 1-9
    • Faitelson, Y.B.A.1    Shroff, M.2    Grunebaum, E.3    Roifman, C.R.4    Naqvi, A.5
  • 22
    • 84943588600 scopus 로고    scopus 로고
    • Orf infection in a patient with Stat1 gain-of-function
    • Kilic, S.S., Puel, A., Casanova, J.L., Orf infection in a patient with Stat1 gain-of-function. J Clin Immunol 35 (2015), 80–83.
    • (2015) J Clin Immunol , vol.35 , pp. 80-83
    • Kilic, S.S.1    Puel, A.2    Casanova, J.L.3
  • 23
    • 84904025285 scopus 로고    scopus 로고
    • A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data
    • Hu, H., Roach, J.C., Coon, H., Guthery, S.L., Voelkerding, K.V., Margraf, R.L., et al. A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data. Nat Biotechnol 32 (2014), 663–669.
    • (2014) Nat Biotechnol , vol.32 , pp. 663-669
    • Hu, H.1    Roach, J.C.2    Coon, H.3    Guthery, S.L.4    Voelkerding, K.V.5    Margraf, R.L.6
  • 24
    • 78650633201 scopus 로고    scopus 로고
    • A novel form of human STAT1 deficiency impairing early but not late responses to interferons
    • Kong, X.F., Ciancanelli, M., Al-Hajjar, S., Alsina, L., Zumwalt, T., Bustamante, J., et al. A novel form of human STAT1 deficiency impairing early but not late responses to interferons. Blood 116 (2010), 5895–5906.
    • (2010) Blood , vol.116 , pp. 5895-5906
    • Kong, X.F.1    Ciancanelli, M.2    Al-Hajjar, S.3    Alsina, L.4    Zumwalt, T.5    Bustamante, J.6
  • 25
    • 80051699717 scopus 로고    scopus 로고
    • OASIS: online application for the survival analysis of lifespan assays performed in aging research
    • Yang, J.S., Nam, H.J., Seo, M., Han, S.K., Choi, Y., Nam, H.G., et al. OASIS: online application for the survival analysis of lifespan assays performed in aging research. PLoS One, 6, 2011, e23525.
    • (2011) PLoS One , vol.6 , pp. e23525
    • Yang, J.S.1    Nam, H.J.2    Seo, M.3    Han, S.K.4    Choi, Y.5    Nam, H.G.6
  • 26
    • 33845983223 scopus 로고    scopus 로고
    • Successful bone marrow transplantation for IPEX syndrome after reduced-intensity conditioning
    • Rao, A., Kamani, N., Filipovich, A., Lee, S.M., Davies, S.M., Dalal, J., et al. Successful bone marrow transplantation for IPEX syndrome after reduced-intensity conditioning. Blood 109 (2007), 383–385.
    • (2007) Blood , vol.109 , pp. 383-385
    • Rao, A.1    Kamani, N.2    Filipovich, A.3    Lee, S.M.4    Davies, S.M.5    Dalal, J.6
  • 27
    • 84957976371 scopus 로고    scopus 로고
    • Extrapulmonary tuberculosis mimicking Mendelian susceptibility to mycobacterial disease in a patient with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation
    • Kataoka, S., Muramatsu, H., Okuno, Y., Hayashi, Y., Mizoguchi, Y., Tsumura, M., et al. Extrapulmonary tuberculosis mimicking Mendelian susceptibility to mycobacterial disease in a patient with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation. J Allergy Clin Immunol 137 (2016), 619–622.e1.
    • (2016) J Allergy Clin Immunol , vol.137 , pp. 619-622.e1
    • Kataoka, S.1    Muramatsu, H.2    Okuno, Y.3    Hayashi, Y.4    Mizoguchi, Y.5    Tsumura, M.6
  • 28
    • 51249099119 scopus 로고    scopus 로고
    • Early diagnostic and prognostic significance of a specific Th1/Th2 cytokine pattern in children with haemophagocytic syndrome
    • Tang, Y., Xu, X., Song, H., Yang, S., Shi, S., Wei, J., et al. Early diagnostic and prognostic significance of a specific Th1/Th2 cytokine pattern in children with haemophagocytic syndrome. Br J Haematol 143 (2008), 84–91.
    • (2008) Br J Haematol , vol.143 , pp. 84-91
    • Tang, Y.1    Xu, X.2    Song, H.3    Yang, S.4    Shi, S.5    Wei, J.6
  • 31
    • 33646346117 scopus 로고    scopus 로고
    • Hematopoietic stem cell transplantation in hemophagocytic lymphohistiocytosis: a single-center report of 48 patients
    • Ouachee-Chardin, M., Elie, C., de Saint Basile, G., Le Deist, F., Mahlaoui, N., Picard, C., et al. Hematopoietic stem cell transplantation in hemophagocytic lymphohistiocytosis: a single-center report of 48 patients. Pediatrics 117 (2006), e743–e750.
    • (2006) Pediatrics , vol.117 , pp. e743-e750
    • Ouachee-Chardin, M.1    Elie, C.2    de Saint Basile, G.3    Le Deist, F.4    Mahlaoui, N.5    Picard, C.6
  • 32
    • 9744229978 scopus 로고    scopus 로고
    • Hematopoietic stem cell transplantation for complete IFN-gamma receptor 1 deficiency: a multi-institutional survey
    • Roesler, J., Horwitz, M.E., Picard, C., Bordigoni, P., Davies, G., Koscielniak, E., et al. Hematopoietic stem cell transplantation for complete IFN-gamma receptor 1 deficiency: a multi-institutional survey. J Pediatr 145 (2004), 806–812.
    • (2004) J Pediatr , vol.145 , pp. 806-812
    • Roesler, J.1    Horwitz, M.E.2    Picard, C.3    Bordigoni, P.4    Davies, G.5    Koscielniak, E.6
  • 33
    • 85017075036 scopus 로고    scopus 로고
    • Janus kinase inhibition lessens inflammation and ameliorates disease in murine models of hemophagocytic lymphohistiocytosis
    • Das, R., Guan, P., Sprague, L., Verbist, K., Tedrick, P., An, Q.A., et al. Janus kinase inhibition lessens inflammation and ameliorates disease in murine models of hemophagocytic lymphohistiocytosis. Blood 127 (2016), 1666–1675.
    • (2016) Blood , vol.127 , pp. 1666-1675
    • Das, R.1    Guan, P.2    Sprague, L.3    Verbist, K.4    Tedrick, P.5    An, Q.A.6


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