메뉴 건너뛰기




Volumn 140, Issue 1, 2017, Pages 273-277.e10

Combined immunodeficiency with severe inflammation and allergy caused by ARPC1B deficiency

Author keywords

[No Author keywords available]

Indexed keywords

IMMUNOGLOBULIN A; IMMUNOGLOBULIN E; ACTIN RELATED PROTEIN 2-3 COMPLEX; ARPC1B PROTEIN, HUMAN; BIOLOGICAL MARKER;

EID: 85009766696     PISSN: 00916749     EISSN: 10976825     Source Type: Journal    
DOI: 10.1016/j.jaci.2016.09.061     Document Type: Article
Times cited : (109)

References (24)
  • 1
    • 77949834455 scopus 로고    scopus 로고
    • A nucleator arms race: cellular control of actin assembly
    • Campellone, K.G., Welch, M.D., A nucleator arms race: cellular control of actin assembly. Nat Rev Mol Cell Biol 11 (2010), 237–251.
    • (2010) Nat Rev Mol Cell Biol , vol.11 , pp. 237-251
    • Campellone, K.G.1    Welch, M.D.2
  • 2
    • 33746947884 scopus 로고    scopus 로고
    • Sleeping beauty transposon-based phenotypic analysis of mice: lack of Arpc3 results in defective trophoblast outgrowth
    • Yae, K., Keng, V.W., Koike, M., Yusa, K., Kouno, M., Uno, Y., et al. Sleeping beauty transposon-based phenotypic analysis of mice: lack of Arpc3 results in defective trophoblast outgrowth. Mol Cell Biol 26 (2006), 6185–6196.
    • (2006) Mol Cell Biol , vol.26 , pp. 6185-6196
    • Yae, K.1    Keng, V.W.2    Koike, M.3    Yusa, K.4    Kouno, M.5    Uno, Y.6
  • 3
    • 84900846113 scopus 로고    scopus 로고
    • Primary immunodeficiency diseases: an update on the classification from the International Union of Immunological Societies expert committee for primary immunodeficiency
    • Al-Herz, W., Bousfiha, A., Casanova, J.L., Chatila, T., Conley, M.E., Cunningham-Rundles, C., et al. Primary immunodeficiency diseases: an update on the classification from the International Union of Immunological Societies expert committee for primary immunodeficiency. Front Immunol, 5, 2014, 162.
    • (2014) Front Immunol , vol.5 , pp. 162
    • Al-Herz, W.1    Bousfiha, A.2    Casanova, J.L.3    Chatila, T.4    Conley, M.E.5    Cunningham-Rundles, C.6
  • 4
    • 33845729059 scopus 로고    scopus 로고
    • The WASP-WAVE protein network: connecting the membrane to the cytoskeleton
    • Takenawa, T., Suetsugu, S., The WASP-WAVE protein network: connecting the membrane to the cytoskeleton. Nat Rev Mol Cell Biol 8 (2007), 37–48.
    • (2007) Nat Rev Mol Cell Biol , vol.8 , pp. 37-48
    • Takenawa, T.1    Suetsugu, S.2
  • 5
    • 77649153819 scopus 로고    scopus 로고
    • WASP: a key immunological multitasker
    • Thrasher, A.J., Burns, S.O., WASP: a key immunological multitasker. Nat Rev Immunol 10 (2010), 182–192.
    • (2010) Nat Rev Immunol , vol.10 , pp. 182-192
    • Thrasher, A.J.1    Burns, S.O.2
  • 9
    • 84942345939 scopus 로고    scopus 로고
    • Error prone repair of DNA double-strand breaks
    • Rodgers, K., McVey, M., Error prone repair of DNA double-strand breaks. J Cell Physiol 231 (2016), 15–24.
    • (2016) J Cell Physiol , vol.231 , pp. 15-24
    • Rodgers, K.1    McVey, M.2
  • 10
    • 84856946231 scopus 로고    scopus 로고
    • A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP
    • Lanzi, G., Moratto, D., Vairo, D., Masneri, S., Delmonte, O., Paganini, T., et al. A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP. J Exp Med 209 (2012), 29–34.
    • (2012) J Exp Med , vol.209 , pp. 29-34
    • Lanzi, G.1    Moratto, D.2    Vairo, D.3    Masneri, S.4    Delmonte, O.5    Paganini, T.6
  • 11
    • 0038383286 scopus 로고    scopus 로고
    • Apoptotic neutrophils in the circulation of patients with glycogen storage disease type 1b (GSD1b)
    • Kuijpers, T.W., Maianski, N.A., Tool, A.T., Smit, G.P., Rake, J.P., Roos, D., et al. Apoptotic neutrophils in the circulation of patients with glycogen storage disease type 1b (GSD1b). Blood 101 (2003), 5021–5024.
    • (2003) Blood , vol.101 , pp. 5021-5024
    • Kuijpers, T.W.1    Maianski, N.A.2    Tool, A.T.3    Smit, G.P.4    Rake, J.P.5    Roos, D.6
  • 12
    • 2342480420 scopus 로고    scopus 로고
    • Neutrophils in Barth syndrome (BTHS) avidly bind annexin-V in the absence of apoptosis
    • Kuijpers, T.W., Maianski, N.A., Tool, A.T., Becker, K., Plecko, B., Valianpour, F., et al. Neutrophils in Barth syndrome (BTHS) avidly bind annexin-V in the absence of apoptosis. Blood 103 (2004), 3915–3923.
    • (2004) Blood , vol.103 , pp. 3915-3923
    • Kuijpers, T.W.1    Maianski, N.A.2    Tool, A.T.3    Becker, K.4    Plecko, B.5    Valianpour, F.6
  • 13
    • 22044432003 scopus 로고    scopus 로고
    • Hematologic abnormalities in Shwachman Diamond syndrome: lack of genotype-phenotype relationship
    • Kuijpers, T.W., Alders, M., Tool, A.T., Mellink, C., Roos, D., Hennekam, R.C., Hematologic abnormalities in Shwachman Diamond syndrome: lack of genotype-phenotype relationship. Blood 106 (2005), 356–361.
    • (2005) Blood , vol.106 , pp. 356-361
    • Kuijpers, T.W.1    Alders, M.2    Tool, A.T.3    Mellink, C.4    Roos, D.5    Hennekam, R.C.6
  • 14
    • 74949085764 scopus 로고    scopus 로고
    • CD20 deficiency in humans results in impaired T cell-independent antibody responses
    • Kuijpers, T.W., Bende, R.J., Baars, P.A., Grummels, A., Derks, I.A., Dolman, K.M., et al. CD20 deficiency in humans results in impaired T cell-independent antibody responses. J Clin Invest 120 (2010), 214–222.
    • (2010) J Clin Invest , vol.120 , pp. 214-222
    • Kuijpers, T.W.1    Bende, R.J.2    Baars, P.A.3    Grummels, A.4    Derks, I.A.5    Dolman, K.M.6
  • 15
    • 82555191055 scopus 로고    scopus 로고
    • A novel mutation in CD132 causes X-CID with defective T-cell activation and impaired humoral reactivity
    • Kuijpers, T.W., Baars, P.A., Aan de Kerk, D.J., Jansen, M.H., Derks, I.A., Bredius, R.G., et al. A novel mutation in CD132 causes X-CID with defective T-cell activation and impaired humoral reactivity. J Allergy Clin Immunol 128 (2011), 1360–1363.e4.
    • (2011) J Allergy Clin Immunol , vol.128 , pp. 1360-1363.e4
    • Kuijpers, T.W.1    Baars, P.A.2    Aan de Kerk, D.J.3    Jansen, M.H.4    Derks, I.A.5    Bredius, R.G.6
  • 18
    • 84855857711 scopus 로고    scopus 로고
    • Defects in Glanzmann thrombasthenia and LAD-III (LAD-1/v) syndrome: the role of integrin β1 and β3 in platelet adhesion to collagen
    • van de Vijver, E., De Cuyper, I.M., Gerrits, A.J., Verhoeven, A.J., Seeger, K., Gutiérrez, L., et al. Defects in Glanzmann thrombasthenia and LAD-III (LAD-1/v) syndrome: the role of integrin β1 and β3 in platelet adhesion to collagen. Blood 119 (2012), 583–586.
    • (2012) Blood , vol.119 , pp. 583-586
    • van de Vijver, E.1    De Cuyper, I.M.2    Gerrits, A.J.3    Verhoeven, A.J.4    Seeger, K.5    Gutiérrez, L.6
  • 19
    • 0037317228 scopus 로고    scopus 로고
    • Stop and go extraction tips for matrix-assisted laser desorption/ionization, nanoelectrospray, and LC/MS sample pretreatment in proteomics
    • Rappsilber, J., Ishihama, Y., Mann, M., Stop and go extraction tips for matrix-assisted laser desorption/ionization, nanoelectrospray, and LC/MS sample pretreatment in proteomics. Anal Chem 75 (2003), 663–670.
    • (2003) Anal Chem , vol.75 , pp. 663-670
    • Rappsilber, J.1    Ishihama, Y.2    Mann, M.3
  • 20
    • 84964766156 scopus 로고    scopus 로고
    • Impaired killing of Candida albicans by granulocytes mobilized for transfusion purposes: a role for granule components
    • Gazendam, R.P., van de Geer, A., van Hamme, J.L., Tool, A.T., van Rees, D.J., Aarts, C.E., et al. Impaired killing of Candida albicans by granulocytes mobilized for transfusion purposes: a role for granule components. Haematologica 101 (2016), 587–596.
    • (2016) Haematologica , vol.101 , pp. 587-596
    • Gazendam, R.P.1    van de Geer, A.2    van Hamme, J.L.3    Tool, A.T.4    van Rees, D.J.5    Aarts, C.E.6
  • 21
    • 75849153303 scopus 로고    scopus 로고
    • The Universal Protein Resource (UniProt) in 2010
    • UniProt Consortium. The Universal Protein Resource (UniProt) in 2010. Nucleic Acids Res 38 (2010), D142–D148.
    • (2010) Nucleic Acids Res , vol.38 , pp. D142-D148
  • 22
    • 57449099865 scopus 로고    scopus 로고
    • MaxQuant enables high peptide identification rates, individualized p.p.b.-range mass accuracies and proteome-wide protein quantification
    • Cox, J., Mann, M., MaxQuant enables high peptide identification rates, individualized p.p.b.-range mass accuracies and proteome-wide protein quantification. Nat Biotechnol 26 (2008), 1367–1372.
    • (2008) Nat Biotechnol , vol.26 , pp. 1367-1372
    • Cox, J.1    Mann, M.2
  • 23
    • 79959210305 scopus 로고    scopus 로고
    • A conditional knockout resource for the genome-wide study of mouse gene function
    • Skarnes, W.C., Rosen, B., West, A.P., Koutsourakis, M., Bushell, W., Iyer, V., et al. A conditional knockout resource for the genome-wide study of mouse gene function. Nature 474 (2011), 337–342.
    • (2011) Nature , vol.474 , pp. 337-342
    • Skarnes, W.C.1    Rosen, B.2    West, A.P.3    Koutsourakis, M.4    Bushell, W.5    Iyer, V.6
  • 24
    • 84880562927 scopus 로고    scopus 로고
    • Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes
    • White, J.K., Gerdin, A.K., Karp, N.A., Ryder, E., Buljan, M., Bussell, J.N., et al. Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes. Cell 154 (2013), 452–464.
    • (2013) Cell , vol.154 , pp. 452-464
    • White, J.K.1    Gerdin, A.K.2    Karp, N.A.3    Ryder, E.4    Buljan, M.5    Bussell, J.N.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.