메뉴 건너뛰기




Volumn 372, Issue 25, 2015, Pages 2409-2422

Inherited DOCK2 deficiency in patients with early-onset invasive infections

(49)  Dobbs, Kerry a   Conde, Cecilia Domínguez f   Zhang, Shen Ying i,k,l   Parolini, Silvia d,o   Audry, Magali i   Chou, Janet a   Haapaniemi, Emma g,q   Keles, Sevgi a,x   Bilic, Ivan f   Okada, Satoshi i   Massaad, Michel J a   Rounioja, Samuli l,v,w   Alwahadneh, Adel M m,z   Serwas, Nina K f   Capuder, Kelly a   Çiftçi, Ergin y   Felgentreff, Kerstin a   Ohsumi, Toshiro K c   Pedergnana, Vincent k   Boisson, Bertrand i   more..


Author keywords

[No Author keywords available]

Indexed keywords

ALEMTUZUMAB; ALPHA INTERFERON; ALPHA2B INTERFERON; AMYLASE; BCG VACCINE; BUSULFAN; CHEMOKINE; CHICKENPOX VACCINE; COTRIMOXAZOLE; DEDICATOR OF CYTOKINESIS 2 PROTEIN; FLUDARABINE; GAMMA INTERFERON; IMMUNOGLOBULIN; IMMUNOGLOBULIN G; IMMUNOGLOBULIN M; PHYTOHEMAGGLUTININ; RAC1 PROTEIN; RECOMBINANT ALPHA2B INTERFERON; TREOSULFAN; UNCLASSIFIED DRUG; DOCK2 PROTEIN, HUMAN; GUANINE NUCLEOTIDE EXCHANGE FACTOR; RAC1 PROTEIN, HUMAN;

EID: 84931403287     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMoa1413462     Document Type: Article
Times cited : (164)

References (42)
  • 1
    • 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 JL, et al. Primary immunodeficiency diseases: an update on the classification from the International Union of Immunological Societies expert committee for primary immunodeficiency. Front Immunol 2014; 5:162.
    • (2014) Front Immunol , vol.5 , pp. 162
    • Al-Herz, W.1    Bousfiha, A.2    Casanova, J.L.3
  • 2
    • 84875501643 scopus 로고    scopus 로고
    • Functional T cell immunodeficiencies (with T cells present)
    • Notarangelo LD. Functional T cell immunodeficiencies (with T cells present). Annu Rev Immunol 2013;31:195-225.
    • (2013) Annu Rev Immunol , vol.31 , pp. 195-225
    • Notarangelo, L.D.1
  • 4
    • 84901496122 scopus 로고    scopus 로고
    • Discovery of single-gene inborn errors of immunity by next generation sequencing
    • Conley ME, Casanova JL. Discovery of single-gene inborn errors of immunity by next generation sequencing. Curr Opin Immunol 2014;30:17-23.
    • (2014) Curr Opin Immunol , vol.30 , pp. 17-23
    • Conley, M.E.1    Casanova, J.L.2
  • 5
    • 73349110071 scopus 로고    scopus 로고
    • Exome sequencing identifies the cause of a mendelian disorder
    • Ng SB, Buckingham KJ, Lee C, et al. Exome sequencing identifies the cause of a mendelian disorder. Nat Genet 2010;42:30-5.
    • (2010) Nat Genet , vol.42 , pp. 30-35
    • Ng, S.B.1    Buckingham, K.J.2    Lee, C.3
  • 6
    • 84885785987 scopus 로고    scopus 로고
    • Clinical whole-exome sequencing for the diagnosis of mendelian disorders
    • Yang Y, Muzny DM, Reid JG, et al. Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med 2013;369:1502-11.
    • (2013) N Engl J Med , vol.369 , pp. 1502-1511
    • Yang, Y.1    Muzny, D.M.2    Reid, J.G.3
  • 7
    • 84908247576 scopus 로고    scopus 로고
    • Guidelines for genetic studies in single patients: Lessons from primary immunodeficiencies
    • Casanova JL, Conley ME, Seligman SJ, Abel L, Notarangelo LD. Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies. J Exp Med 2014;211:2137-49.
    • (2014) J Exp Med , vol.211 , pp. 2137-2149
    • Casanova, J.L.1    Conley, M.E.2    Seligman, S.J.3    Abel, L.4    Notarangelo, L.D.5
  • 8
    • 0141923861 scopus 로고    scopus 로고
    • DOCK2 regulates Rac activation and cytoskeletal reorganization through interaction with ELMO1
    • Sanui T, Inayoshi A, Noda M, et al. DOCK2 regulates Rac activation and cytoskeletal reorganization through interaction with ELMO1. Blood 2003;102:2948-50.
    • (2003) Blood , vol.102 , pp. 2948-2950
    • Sanui, T.1    Inayoshi, A.2    Noda, M.3
  • 9
    • 17944375813 scopus 로고    scopus 로고
    • Haematopoietic cell-specific CDM family protein DOCK2 is essential for lymphocyte migration
    • Fukui Y, Hashimoto O, Sanui T, et al. Haematopoietic cell-specific CDM family protein DOCK2 is essential for lymphocyte migration. Nature 2001;412:826-31.
    • (2001) Nature , vol.412 , pp. 826-831
    • Fukui, Y.1    Hashimoto, O.2    Sanui, T.3
  • 10
    • 4444335344 scopus 로고    scopus 로고
    • Differential requirements for DOCK2 and phosphoinositide-3-kinase gamma during T and B lymphocyte homing
    • Nombela-Arrieta C, Lacalle RA, Montoya MC, et al. Differential requirements for DOCK2 and phosphoinositide-3-kinase gamma during T and B lymphocyte homing. Immunity 2004;21:429-41.
    • (2004) Immunity , vol.21 , pp. 429-441
    • Nombela-Arrieta, C.1    Lacalle, R.A.2    Montoya, M.C.3
  • 11
    • 61849086864 scopus 로고    scopus 로고
    • Human natural killer receptors, co-receptors, and their ligands
    • Chapter 14: Unit 14.10
    • Biassoni R. Human natural killer receptors, co-receptors, and their ligands. Curr Protoc Immunol 2009;Chapter 14: Unit 14.10.
    • (2009) Curr Protoc Immunol
    • Biassoni, R.1
  • 12
    • 84881029114 scopus 로고    scopus 로고
    • Human NK cell receptors/markers: A tool to analyze NK cell development, subsets and function
    • Montaldo E, Del Zotto G, Della Chiesa M, et al. Human NK cell receptors/markers: a tool to analyze NK cell development, subsets and function. Cytometry A 2013;83:702-13.
    • (2013) Cytometry A , vol.83 , pp. 702-713
    • Montaldo, E.1    Del Zotto, G.2    Della Chiesa, M.3
  • 13
    • 33750743068 scopus 로고    scopus 로고
    • Dissecting natural killer cell activation pathways through analysis of genetic mutations in human and mouse
    • Tassi I, Klesney-Tait J, Colonna M. Dissecting natural killer cell activation pathways through analysis of genetic mutations in human and mouse. Immunol Rev 2006;214:92-105.
    • (2006) Immunol Rev , vol.214 , pp. 92-105
    • Tassi, I.1    Klesney-Tait, J.2    Colonna, M.3
  • 14
    • 84886663499 scopus 로고    scopus 로고
    • Signaling by Fyn-ADAP via the Carma1-Bcl-10-MAP3K7 signalosome exclusively regulates inflammatory cytokine production in NK cells
    • Rajasekaran K, Kumar P, Schuldt KM, et al. Signaling by Fyn-ADAP via the Carma1-Bcl-10-MAP3K7 signalosome exclusively regulates inflammatory cytokine production in NK cells. Nat Immunol 2013;14:1127-36.
    • (2013) Nat Immunol , vol.14 , pp. 1127-1136
    • Rajasekaran, K.1    Kumar, P.2    Schuldt, K.M.3
  • 15
    • 42449096400 scopus 로고    scopus 로고
    • Differential requirement for DOCK2 in migration of plasmacytoid dendritic cells versus myeloid dendritic cells
    • Gotoh K, Tanaka Y, Nishikimi A, et al. Differential requirement for DOCK2 in migration of plasmacytoid dendritic cells versus myeloid dendritic cells. Blood 2008;111:2973-6.
    • (2008) Blood , vol.111 , pp. 2973-2976
    • Gotoh, K.1    Tanaka, Y.2    Nishikimi, A.3
  • 17
    • 84884635259 scopus 로고    scopus 로고
    • The Rac activator DOCK2 regulates natural killer cell-mediated cytotoxicity in mice through the lytic synapse formation
    • Sakai Y, Tanaka Y, Yanagihara T, et al. The Rac activator DOCK2 regulates natural killer cell-mediated cytotoxicity in mice through the lytic synapse formation. Blood 2013;122:386-93.
    • (2013) Blood , vol.122 , pp. 386-393
    • Sakai, Y.1    Tanaka, Y.2    Yanagihara, T.3
  • 18
    • 33645753732 scopus 로고    scopus 로고
    • DOCK2 is required in T cell precursors for development of Valpha14 NK T cells
    • Kunisaki Y, Tanaka Y, Sanui T, et al. DOCK2 is required in T cell precursors for development of Valpha14 NK T cells. J Immunol 2006;176:4640-5.
    • (2006) J Immunol , vol.176 , pp. 4640-4645
    • Kunisaki, Y.1    Tanaka, Y.2    Sanui, T.3
  • 19
    • 55149102403 scopus 로고    scopus 로고
    • Inborn errors of interferon (IFN)-mediated immunity in humans: Insights into the respective roles of IFN-alpha/beta, IFN-gamma, and IFN-lambda in host defense
    • Zhang SY, Boisson-Dupuis S, Chapgier A, et al. Inborn errors of interferon (IFN)-mediated immunity in humans: insights into the respective roles of IFN-alpha/beta, IFN-gamma, and IFN-lambda in host defense. Immunol Rev 2008;226:29-40.
    • (2008) Immunol Rev , vol.226 , pp. 29-40
    • Zhang, S.Y.1    Boisson-Dupuis, S.2    Chapgier, A.3
  • 20
    • 77349088003 scopus 로고    scopus 로고
    • Unraveling the functions of plasmacytoid dendritic cells during viral infections, autoimmunity, and tolerance
    • Swiecki M, Colonna M. Unraveling the functions of plasmacytoid dendritic cells during viral infections, autoimmunity, and tolerance. Immunol Rev 2010;234:142-62.
    • (2010) Immunol Rev , vol.234 , pp. 142-162
    • Swiecki, M.1    Colonna, M.2
  • 21
    • 77951055351 scopus 로고    scopus 로고
    • Selective control of type I IFN induction by the Rac activator DOCK2 during TLR-mediated plasmacytoid dendritic cell activation
    • Gotoh K, Tanaka Y, Nishikimi A, et al. Selective control of type I IFN induction by the Rac activator DOCK2 during TLR-mediated plasmacytoid dendritic cell activation. J Exp Med 2010;207:721-30.
    • (2010) J Exp Med , vol.207 , pp. 721-730
    • Gotoh, K.1    Tanaka, Y.2    Nishikimi, A.3
  • 22
    • 0032747430 scopus 로고    scopus 로고
    • Non-adherent cell-specific expression of DOCK2, a member of the human CDM-family proteins
    • Nishihara H, Kobayashi S, Hashimoto Y, et al. Non-adherent cell-specific expression of DOCK2, a member of the human CDM-family proteins. Biochim Biophys Acta 1999;1452:179-87.
    • (1999) Biochim Biophys Acta , vol.1452 , pp. 179-187
    • Nishihara, H.1    Kobayashi, S.2    Hashimoto, Y.3
  • 24
    • 0038445857 scopus 로고    scopus 로고
    • DOCK2 is essential for antigen-induced translocation of TCR and lipid rafts, but not PKC-theta and LFA-1, in T cells
    • Sanui T, Inayoshi A, Noda M, et al. DOCK2 is essential for antigen-induced translocation of TCR and lipid rafts, but not PKC-theta and LFA-1, in T cells. Immunity 2003;19:119-29.
    • (2003) Immunity , vol.19 , pp. 119-129
    • Sanui, T.1    Inayoshi, A.2    Noda, M.3
  • 25
    • 77649153819 scopus 로고    scopus 로고
    • WASP: A key immunological multitasker
    • Thrasher AJ, Burns SO. WASP: a key immunological multitasker. Nat Rev Immunol 2010;10:182-92.
    • (2010) Nat Rev Immunol , vol.10 , pp. 182-192
    • Thrasher, A.J.1    Burns, S.O.2
  • 26
    • 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, et al. A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP. J Exp Med 2012;209:29-34.
    • (2012) J Exp Med , vol.209 , pp. 29-34
    • Lanzi, G.1    Moratto, D.2    Vairo, D.3
  • 27
    • 78650662845 scopus 로고    scopus 로고
    • DOCK8 immune deficiency as a model for primary cytoskeletal dysfunction
    • McGhee SA, Chatila TA. DOCK8 immune deficiency as a model for primary cytoskeletal dysfunction. Dis Markers 2010;29:151-6.
    • (2010) Dis Markers , vol.29 , pp. 151-156
    • McGhee, S.A.1    Chatila, T.A.2
  • 28
    • 84865426636 scopus 로고    scopus 로고
    • Human RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections
    • Crequer A, Troeger A, Patin E, et al. Human RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections. J Clin Invest 2012;122:3239-47.
    • (2012) J Clin Invest , vol.122 , pp. 3239-3247
    • Crequer, A.1    Troeger, A.2    Patin, E.3
  • 29
    • 84859837132 scopus 로고    scopus 로고
    • The phenotype of human STK4 deficiency
    • Abdollahpour H, Appaswamy G, Kotlarz D, et al. The phenotype of human STK4 deficiency. Blood 2012;119:3450-7.
    • (2012) Blood , vol.119 , pp. 3450-3457
    • Abdollahpour, H.1    Appaswamy, G.2    Kotlarz, D.3
  • 30
    • 84859875061 scopus 로고    scopus 로고
    • MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival
    • Nehme NT, Pachlopnik Schmid J, Debeurme F, et al. MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival. Blood 2012;119:3458-68.
    • (2012) Blood , vol.119 , pp. 3458-3468
    • Nehme, N.T.1    Pachlopnik Schmid, J.2    Debeurme, F.3
  • 31
    • 37149022518 scopus 로고    scopus 로고
    • Human primary immunodeficiency diseases
    • Fischer A. Human primary immunodeficiency diseases. Immunity 2007;27:835-45.
    • (2007) Immunity , vol.27 , pp. 835-845
    • Fischer, A.1
  • 33
    • 15244349785 scopus 로고    scopus 로고
    • Plasmacytoid dendritic cells in immunity
    • Colonna M, Trinchieri G, Liu YJ. Plasmacytoid dendritic cells in immunity. Nat Immunol 2004;5:1219-26.
    • (2004) Nat Immunol , vol.5 , pp. 1219-1226
    • Colonna, M.1    Trinchieri, G.2    Liu, Y.J.3
  • 34
    • 65249117435 scopus 로고    scopus 로고
    • Sequential regulation of DOCK2 dynamics by two phospholipids during neutrophil chemotaxis
    • Nishikimi A, Fukuhara H, Su W, et al. Sequential regulation of DOCK2 dynamics by two phospholipids during neutrophil chemotaxis. Science 2009;324:384-7.
    • (2009) Science , vol.324 , pp. 384-387
    • Nishikimi, A.1    Fukuhara, H.2    Su, W.3
  • 35
    • 71149115670 scopus 로고    scopus 로고
    • Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome
    • Engelhardt KR, McGhee S, Winkler S, et al. Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome. J Allergy Clin Immunol 2009;124(6):1289.e4-1302.e4.
    • (2009) J Allergy Clin Immunol , vol.124 , Issue.6 , pp. 1289e4-1302e4
    • Engelhardt, K.R.1    McGhee, S.2    Winkler, S.3
  • 36
    • 70949098060 scopus 로고    scopus 로고
    • Combined immunodeficiency associated with DOCK8 mutations
    • Zhang Q, Davis JC, Lamborn IT, et al. Combined immunodeficiency associated with DOCK8 mutations. N Engl J Med 2009;361:2046-55.
    • (2009) N Engl J Med , vol.361 , pp. 2046-2055
    • Zhang, Q.1    Davis, J.C.2    Lamborn, I.T.3
  • 37
    • 84875226021 scopus 로고    scopus 로고
    • Defective actin accumulation impairs human natural killer cell function in patients with dedicator of cytokinesis 8 deficiency
    • Mizesko MC, Banerjee PP, Monaco-Shawver L, et al. Defective actin accumulation impairs human natural killer cell function in patients with dedicator of cytokinesis 8 deficiency. J Allergy Clin Immunol 2013;131:840-8.
    • (2013) J Allergy Clin Immunol , vol.131 , pp. 840-848
    • Mizesko, M.C.1    Banerjee, P.P.2    Monaco-Shawver, L.3
  • 38
    • 84887595223 scopus 로고    scopus 로고
    • DOCK8 is critical for the survival and function of NKT cells
    • Crawford G, Enders A, Gileadi U, et al. DOCK8 is critical for the survival and function of NKT cells. Blood 2013;122:2052-61.
    • (2013) Blood , vol.122 , pp. 2052-2061
    • Crawford, G.1    Enders, A.2    Gileadi, U.3
  • 39
    • 84861236002 scopus 로고    scopus 로고
    • DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation
    • Jabara HH, McDonald DR, Janssen E, et al. DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation. Nat Immunol 2012;13:612-20.
    • (2012) Nat Immunol , vol.13 , pp. 612-620
    • Jabara, H.H.1    McDonald, D.R.2    Janssen, E.3
  • 40
    • 84892474895 scopus 로고    scopus 로고
    • Flow cytometry biomarkers distinguish DOCK8 deficiency from severe atopic dermatitis
    • Janssen E, Tsitsikov E, Al-Herz W, et al. Flow cytometry biomarkers distinguish DOCK8 deficiency from severe atopic dermatitis. Clin Immunol 2014;150:220-4.
    • (2014) Clin Immunol , vol.150 , pp. 220-224
    • Janssen, E.1    Tsitsikov, E.2    Al-Herz, W.3
  • 41
    • 84908440532 scopus 로고    scopus 로고
    • Dedicator of cytokinesis 8-deficient patients have a breakdown in peripheral B-cell tolerance and defective regulatory T cells
    • Janssen E, Morbach H, Ullas S, et al. Dedicator of cytokinesis 8-deficient patients have a breakdown in peripheral B-cell tolerance and defective regulatory T cells. J Allergy Clin Immunol 2014;134:1365-74.
    • (2014) J Allergy Clin Immunol , vol.134 , pp. 1365-1374
    • Janssen, E.1    Morbach, H.2    Ullas, S.3
  • 42
    • 84860110971 scopus 로고    scopus 로고
    • Blockade of inflammatory responses by a small-molecule inhibitor of the Rac activator DOCK2
    • Nishikimi A, Uruno T, Duan X, et al. Blockade of inflammatory responses by a small-molecule inhibitor of the Rac activator DOCK2. Chem Biol 2012;19:488-97.
    • (2012) Chem Biol , vol.19 , pp. 488-497
    • Nishikimi, A.1    Uruno, T.2    Duan, X.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.