메뉴 건너뛰기




Volumn 141, Issue 6, 2018, Pages 2303-2306

Prevalence and clinical challenges among adults with primary immunodeficiency and recombination-activating gene deficiency

(45)  Lawless, Dylan a   Geier, Christoph B b   Farmer, Jocelyn R c   Lango Allen, Hana d,e   Thwaites, Daniel a   Atschekzei, Faranaz f   Brown, Matthew d,e   Buchbinder, David g   Burns, Siobhan O h,i   Butte, Manish J j   Csomos, Krisztian k   Deevi, Sri V V d,e   Egner, William l   Ehl, Stephan m,n   Eibl, Martha M b,o   Fadugba, Olajumoke p   Foldvari, Zsofia q   Green, Deanna M r   Henrickson, Sarah E s   Holland, Steven M t   more..


Author keywords

[No Author keywords available]

Indexed keywords

B LYMPHOCYTE RECEPTOR; IMMUNOGLOBULIN A; IMMUNOGLOBULIN G; IMMUNOGLOBULIN M; RAG1 PROTEIN; RAG2 PROTEIN; T LYMPHOCYTE RECEPTOR; DNA BINDING PROTEIN; HOMEODOMAIN PROTEIN; NUCLEAR PROTEIN; RAG-1 PROTEIN; RAG2 PROTEIN, HUMAN;

EID: 85044596801     PISSN: 00916749     EISSN: 10976825     Source Type: Journal    
DOI: 10.1016/j.jaci.2018.02.007     Document Type: Article
Times cited : (36)

References (10)
  • 1
    • 84992222154 scopus 로고    scopus 로고
    • Estimated disease incidence of RAG1/2 mutations: a case report and querying the Exome Aggregation Consortium
    • Kumanovics, A., Lee, Y.N., Close, D.W., Coonrod, E.M., Ujhazi, B., Chen, K., et al. Estimated disease incidence of RAG1/2 mutations: a case report and querying the Exome Aggregation Consortium. J Allergy Clin Immunol 139 (2017), 690–692.e3.
    • (2017) J Allergy Clin Immunol , vol.139 , pp. 690-692.e3
    • Kumanovics, A.1    Lee, Y.N.2    Close, D.W.3    Coonrod, E.M.4    Ujhazi, B.5    Chen, K.6
  • 2
    • 84906543118 scopus 로고    scopus 로고
    • Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States
    • Kwan, A., Abraham, R.S., Currier, R., Brower, A., Andruszewski, K., Abbott, J.K., et al. Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States. JAMA 312 (2014), 729–738.
    • (2014) JAMA , vol.312 , pp. 729-738
    • Kwan, A.1    Abraham, R.S.2    Currier, R.3    Brower, A.4    Andruszewski, K.5    Abbott, J.K.6
  • 4
    • 80053131341 scopus 로고    scopus 로고
    • Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency
    • Felgentreff, K., Perez-Becker, R., Speckmann, C., Schwarz, K., Kalwak, K., Markelj, G., et al. Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency. Clin Immunol 141 (2011), 73–82.
    • (2011) Clin Immunol , vol.141 , pp. 73-82
    • Felgentreff, K.1    Perez-Becker, R.2    Speckmann, C.3    Schwarz, K.4    Kalwak, K.5    Markelj, G.6
  • 5
    • 84946781804 scopus 로고    scopus 로고
    • Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency
    • Walter, J.E., Rosen, L.B., Csomos, K., Rosenberg, J.M., Mathew, D., Keszei, M., et al. Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency. J Clin Invest 125 (2015), 4135–4148.
    • (2015) J Clin Invest , vol.125 , pp. 4135-4148
    • Walter, J.E.1    Rosen, L.B.2    Csomos, K.3    Rosenberg, J.M.4    Mathew, D.5    Keszei, M.6
  • 6
    • 84924372393 scopus 로고    scopus 로고
    • Identification of patients with RAG mutations previously diagnosed with common variable immunodeficiency disorders
    • Buchbinder, D., Baker, R., Lee, Y.N., Ravell, J., Zhang, Y., McElwee, J., et al. Identification of patients with RAG mutations previously diagnosed with common variable immunodeficiency disorders. J Clin Immunol 35 (2015), 119–124.
    • (2015) J Clin Immunol , vol.35 , pp. 119-124
    • Buchbinder, D.1    Baker, R.2    Lee, Y.N.3    Ravell, J.4    Zhang, Y.5    McElwee, J.6
  • 7
    • 84941308408 scopus 로고    scopus 로고
    • Leaky RAG deficiency in adult patients with impaired antibody production against bacterial polysaccharide antigens
    • Geier, C.B., Piller, A., Linder, A., Sauerwein, K.M., Eibl, M.M., Wolf, H.M., Leaky RAG deficiency in adult patients with impaired antibody production against bacterial polysaccharide antigens. PLoS One, 10, 2015, e0133220.
    • (2015) PLoS One , vol.10 , pp. e0133220
    • Geier, C.B.1    Piller, A.2    Linder, A.3    Sauerwein, K.M.4    Eibl, M.M.5    Wolf, H.M.6
  • 8
    • 85044392527 scopus 로고    scopus 로고
    • Loss of function NFKB1 variants are the most common monogenic cause of CVID in Europeans
    • [Epub ahead of print]
    • Tuijnenburg, P., Lango Allen, H., Burns, S.O., Greene, D., Jansen, M.H., Staples, E., et al. Loss of function NFKB1 variants are the most common monogenic cause of CVID in Europeans. J Allergy Clin Immunol, 2018 Feb 22, 10.1016/j.jaci.2018.01.039 [Epub ahead of print].
    • (2018) J Allergy Clin Immunol
    • Tuijnenburg, P.1    Lango Allen, H.2    Burns, S.O.3    Greene, D.4    Jansen, M.H.5    Staples, E.6
  • 9
    • 84897389616 scopus 로고    scopus 로고
    • A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency
    • Lee, Y.N., Frugoni, F., Dobbs, K., Walter, J.E., Giliani, S., Gennery, A.R., et al. A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency. J Allergy Clin Immunol 133 (2014), 1099–1108.
    • (2014) J Allergy Clin Immunol , vol.133 , pp. 1099-1108
    • Lee, Y.N.1    Frugoni, F.2    Dobbs, K.3    Walter, J.E.4    Giliani, S.5    Gennery, A.R.6
  • 10
    • 85006132748 scopus 로고    scopus 로고
    • A prospective study on the natural history of patients with profound combined immunodeficiency: an interim analysis
    • Speckmann, C., Doerken, S., Aiuti, A., Albert, M.H., Al-Herz, W., Allende, L.M., et al. A prospective study on the natural history of patients with profound combined immunodeficiency: an interim analysis. J Allergy Clin Immunol 139 (2017), 1302–1310.e4.
    • (2017) J Allergy Clin Immunol , vol.139 , pp. 1302-1310.e4
    • Speckmann, C.1    Doerken, S.2    Aiuti, A.3    Albert, M.H.4    Al-Herz, W.5    Allende, L.M.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.