메뉴 건너뛰기




Volumn 37, Issue 7, 2017, Pages 707-714

Detection of Sp110 by Flow Cytometry and Application to Screening Patients for Veno-occlusive Disease with Immunodeficiency

(25)  Marquardsen, Florian A a   Baldin, Fabian a   Wunderer, Florian b   Al Herz, Waleed c   Mikhael, Raymond d   Lefranc, Gérard e   Baz, Zeina f   Rezaee, Fariba g   Hanna, Rabi g   Kfir Erenfeld, Shlomit h   Stepensky, Polina h   Meyer, Benedikt a   Jauch, Annaise a   Bigler, Marc B l   Burgener, Anne Valérie a   Higgins, Rebecca i   Navarini, Alexander A i   Church, Joeseph A j   Chou, Janet k   Geha, Raif k   more..


Author keywords

Combined immunodeficiency; Flow cytometry; Newborn screening; Pneumocystis; Primary immunodeficiency; Sp110; Veno occlusive disease with immunodeficiency; VODI

Indexed keywords

COTRIMOXAZOLE; HEAT SHOCK PROTEIN 110; HEPARIN; IMMUNOGLOBULIN; MINOR HISTOCOMPATIBILITY ANTIGEN; NUCLEAR PROTEIN; SP110 PROTEIN, HUMAN;

EID: 85027835715     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-017-0431-5     Document Type: Article
Times cited : (6)

References (14)
  • 1
    • 0017232852 scopus 로고
    • Familial hepatic venoocclusive disease with probable immune deficiency
    • COI: 1:STN:280:DyaE287it1Wnuw%3D%3D, PID: 1249685
    • Mellis C, Bale PM. Familial hepatic venoocclusive disease with probable immune deficiency. J Pediatr. 1976;88:236–42.
    • (1976) J Pediatr , vol.88 , pp. 236-242
    • Mellis, C.1    Bale, P.M.2
  • 2
    • 33745258176 scopus 로고    scopus 로고
    • Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease
    • COI: 1:CAS:528:DC%2BD28XltVOhtbw%3D, PID: 16648851
    • Roscioli T, et al. Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease. Nat Genet. 2006;38:620–2.
    • (2006) Nat Genet , vol.38 , pp. 620-622
    • Roscioli, T.1
  • 4
    • 84865684727 scopus 로고    scopus 로고
    • Clinical, molecular, and cellular immunologic findings in patients with SP110-associated veno-occlusive disease with immunodeficiency syndrome
    • COI: 1:CAS:528:DC%2BC38XntlyktLc%3D, PID: 22621957
    • Cliffe ST, et al. Clinical, molecular, and cellular immunologic findings in patients with SP110-associated veno-occlusive disease with immunodeficiency syndrome. J Allergy Clin Immunol. 2012;130:735–742.e6.
    • (2012) J Allergy Clin Immunol , vol.130 , pp. 735-742.e6
    • Cliffe, S.T.1
  • 5
    • 84876448639 scopus 로고    scopus 로고
    • The role of hematopoietic stem cell transplantation in SP110 associated veno-occlusive disease with immunodeficiency syndrome
    • PID: 23448538
    • Ganaiem H, et al. The role of hematopoietic stem cell transplantation in SP110 associated veno-occlusive disease with immunodeficiency syndrome. Pediatr Allergy Immunol. 2013;24:250–6.
    • (2013) Pediatr Allergy Immunol , vol.24 , pp. 250-256
    • Ganaiem, H.1
  • 6
    • 84866010021 scopus 로고    scopus 로고
    • Hepatic veno-occlusive disease with immunodeficiency (VODI): first reported case in the U.S. and identification of a unique mutation in Sp110
    • COI: 1:CAS:528:DC%2BC38XhsFKnsLrL, PID: 22982295
    • Wang T, Ong P, Roscioli T, Cliffe ST, Church JA. Hepatic veno-occlusive disease with immunodeficiency (VODI): first reported case in the U.S. and identification of a unique mutation in Sp110. Clin Immunol. 2012;145:102–7.
    • (2012) Clin Immunol , vol.145 , pp. 102-107
    • Wang, T.1    Ong, P.2    Roscioli, T.3    Cliffe, S.T.4    Church, J.A.5
  • 7
    • 84865393696 scopus 로고    scopus 로고
    • SP110 gene polymorphisms and tuberculosis susceptibility: a systematic review and meta-analysis based on 10 624 subjects
    • COI: 1:CAS:528:DC%2BC38Xht1KktLbM, PID: 22691368
    • Lei X, Zhu H, Zha L, Wang Y. SP110 gene polymorphisms and tuberculosis susceptibility: a systematic review and meta-analysis based on 10 624 subjects. Infect Genet Evol. 2012;12:1473–80.
    • (2012) Infect Genet Evol , vol.12 , pp. 1473-1480
    • Lei, X.1    Zhu, H.2    Zha, L.3    Wang, Y.4
  • 8
    • 84973096924 scopus 로고    scopus 로고
    • Variants within the SP110 nuclear body protein modify risk of canine degenerative myelopathy
    • COI: 1:CAS:528:DC%2BC28XnvFeisbg%3D, PID: 27185954
    • Ivansson EL, et al. Variants within the SP110 nuclear body protein modify risk of canine degenerative myelopathy. Proc Natl Acad Sci U S A. 2016;113:E3091–100.
    • (2016) Proc Natl Acad Sci U S A , vol.113 , pp. E3091-E3100
    • Ivansson, E.L.1
  • 9
    • 0032973688 scopus 로고    scopus 로고
    • Structural and functional heterogeneity of nuclear bodies
    • COI: 1:CAS:528:DyaK1MXjt1yis78%3D, PID: 10330182
    • Bloch DB, et al. Structural and functional heterogeneity of nuclear bodies. Mol Cell Biol. 1999;19:4423–30.
    • (1999) Mol Cell Biol , vol.19 , pp. 4423-4430
    • Bloch, D.B.1
  • 10
    • 0036839055 scopus 로고    scopus 로고
    • Implication of the lymphocyte-specific nuclear body protein Sp140 in an innate response to human immunodeficiency virus type 1
    • COI: 1:CAS:528:DC%2BD38XnvFKjtr4%3D, PID: 12368356
    • Madani N, et al. Implication of the lymphocyte-specific nuclear body protein Sp140 in an innate response to human immunodeficiency virus type 1. J Virol. 2002;76:11133–8.
    • (2002) J Virol , vol.76 , pp. 11133-11138
    • Madani, N.1
  • 11
    • 84977529301 scopus 로고    scopus 로고
    • Insert, remove or replace: a highly advanced genome editing system using CRISPR/Cas9
    • COI: 1:CAS:528:DC%2BC28XhtVKnsb3K, PID: 27350235
    • Ceasar SA, Rajan V, Prykhozhij SV, Berman JN, Ignacimuthu S. Insert, remove or replace: a highly advanced genome editing system using CRISPR/Cas9. Biochim Biophys Acta. 2016;1863:2333–44.
    • (2016) Biochim Biophys Acta , vol.1863 , pp. 2333-2344
    • Ceasar, S.A.1    Rajan, V.2    Prykhozhij, S.V.3    Berman, J.N.4    Ignacimuthu, S.5
  • 12
    • 47949089923 scopus 로고    scopus 로고
    • Association of a gene expression profile from whole blood with disease activity in systemic lupus erythaematosus
    • COI: 1:CAS:528:DC%2BD1cXhtVSktbrF, PID: 18063674
    • Nikpour M, Dempsey AA, Urowitz MB, Gladman DD, Barnes DA. Association of a gene expression profile from whole blood with disease activity in systemic lupus erythaematosus. Ann Rheum Dis. 2008;67:1069–75.
    • (2008) Ann Rheum Dis , vol.67 , pp. 1069-1075
    • Nikpour, M.1    Dempsey, A.A.2    Urowitz, M.B.3    Gladman, D.D.4    Barnes, D.A.5
  • 13
    • 0034598746 scopus 로고    scopus 로고
    • Distinct types of diffuse large B-cell lymphoma identified by gene expression profiling
    • COI: 1:CAS:528:DC%2BD3cXht1Shtrg%3D, PID: 10676951
    • Alizadeh AA, et al. Distinct types of diffuse large B-cell lymphoma identified by gene expression profiling. Nature. 2000;403:503–11.
    • (2000) Nature , vol.403 , pp. 503-511
    • Alizadeh, A.A.1
  • 14
    • 0037142053 scopus 로고    scopus 로고
    • The use of molecular profiling to predict survival after chemotherapy for diffuse large-B-cell lymphoma
    • PID: 12075054
    • Rosenwald A, et al. The use of molecular profiling to predict survival after chemotherapy for diffuse large-B-cell lymphoma. N Engl J Med. 2002;346:1937–47.
    • (2002) N Engl J Med , vol.346 , pp. 1937-1947
    • Rosenwald, A.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.