Expanding the spectrum of recombination-activating gene 1 deficiency: A family with early-onset autoimmunity

被引:52
作者
Henderson, Lauren A. [1 ]
Frugoni, Francesco [1 ]
Hopkins, Gregory [2 ]
de Boer, Helen [2 ]
Pai, Sung-Yun [2 ,4 ]
Lee, Yu Nee [1 ]
Walter, Jolan E. [1 ,5 ]
Hazen, Melissa M. [1 ]
Notarangelo, Luigi D. [1 ,3 ,6 ]
机构
[1] Boston Childrens Hosp, Div Immunol, Boston, MA USA
[2] Boston Childrens Hosp, Div Hematol & Oncol, Boston, MA USA
[3] Boston Childrens Hosp, Manton Ctr Orphan Dis Res, Boston, MA USA
[4] Dana Farber Canc Inst, Dept Pediat Oncol, Boston, MA 02115 USA
[5] Massachusetts Gen Hosp Children, Div Pediat Allergy Immunol, Boston, MA USA
[6] Harvard Stem Cell Inst, Boston, MA USA
关键词
RAG MUTATIONS; IMMUNODEFICIENCY; DEFECTS; DISEASE; CELLS;
D O I
10.1016/j.jaci.2013.06.032
中图分类号
R392 [医学免疫学];
学科分类号
100102 ;
摘要
[No abstract available]
引用
收藏
页码:969 / 971
页数:3
相关论文
共 9 条
[1]   A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection [J].
de Villartay, JP ;
Lim, A ;
Al-Mousa, H ;
Dupont, S ;
Déchanet-Merville, J ;
Coumau-Gatbois, E ;
Gougeon, ML ;
Lemainque, A ;
Eidenschenk, C ;
Jouanguy, E ;
Abel, L ;
Casanova, JL ;
Fischer, A ;
Le Deist, F .
JOURNAL OF CLINICAL INVESTIGATION, 2005, 115 (11) :3291-3299
[2]   A variant of SCID with specific immune responses and predominance of γδ T cells [J].
Ehl, S ;
Schwarz, K ;
Enders, A ;
Duffner, U ;
Pannicke, U ;
Kühr, J ;
Mascart, F ;
Schmitt-Graeff, A ;
Niemeyer, C ;
Fisch, P .
JOURNAL OF CLINICAL INVESTIGATION, 2005, 115 (11) :3140-3148
[3]   Idiopathic CD4+ T lymphopenia without autoimmunity or granulomatous disease in the slipstream of RAG mutations [J].
Kuijpers, Taco W. ;
IJspeert, Hanna ;
van Leeuwen, Ester M. M. ;
Jansen, Machiel H. ;
Hazenberg, Mette D. ;
Weijer, Kees C. ;
van Lier, Rene A. W. ;
van der Burg, Mirjam .
BLOOD, 2011, 117 (22) :5892-5896
[4]   Lack of nonfunctional B-cell receptor rearrangements in a patient with normal B cell numbers despite partial RAG1 deficiency and atypical SCID/Omenn syndrome [J].
Ohm-Laursen, Line ;
Nielsen, Christian ;
Fisker, Niels ;
Lillevang, Soren Thue ;
Barington, Torben .
JOURNAL OF CLINICAL IMMUNOLOGY, 2008, 28 (05) :588-592
[5]   An immunodeficiency disease with RAG mutations and granulomas [J].
Schuetz, Catharina ;
Huck, Kirsten ;
Gudowius, Sonja ;
Megahed, Mosaad ;
Feyen, Oliver ;
Hubner, Bernd ;
Schneider, Dominik T. ;
Manfras, Burkhard ;
Pannicke, Ulrich ;
Willemze, Rein ;
Knuechel, Ruth ;
Goebel, Ulrich ;
Schulz, Ansgar ;
Borkhardt, Arndt ;
Friedrich, Wilhelm ;
Schwarz, Klaus ;
Niehues, Tim .
NEW ENGLAND JOURNAL OF MEDICINE, 2008, 358 (19) :2030-2038
[6]   RAG mutations in human B cell-negative SCID [J].
Schwarz, K ;
Gauss, GH ;
Ludwig, L ;
Pannicke, U ;
Li, Z ;
Lindner, D ;
Friedrich, W ;
Seger, RA ;
HansenHagge, TE ;
Desiderio, S ;
Lieber, MR ;
Bartram, CR .
SCIENCE, 1996, 274 (5284) :97-99
[7]   Partial V(D)J recombination activity leads to Omenn syndrome [J].
Villa, A ;
Santagata, S ;
Bozzi, F ;
Giliani, S ;
Frattini, A ;
Imberti, L ;
Gatta, LB ;
Ochs, HD ;
Schwarz, K ;
Notarangelo, LD ;
Vezzoni, P ;
Spanopoulou, E .
CELL, 1998, 93 (05) :885-896
[8]   V(D)J recombination defects in lymphocytes due to RAG mutations:: severe immunodeficiency with a spectrum of clinical presentations [J].
Villa, A ;
Sobacchi, C ;
Notarangelo, LD ;
Bozzi, F ;
Abinun, M ;
Abrahamsen, TG ;
Arkwright, PD ;
Baniyash, M ;
Brooks, EG ;
Conley, ME ;
Cortes, P ;
Duse, M ;
Fasth, A ;
Filipovich, AM ;
Infante, AJ ;
Jones, A ;
Mazzolari, E ;
Muller, SM ;
Pasic, S ;
Rechavi, G ;
Sacco, MG ;
Santagata, S ;
Schroeder, ML ;
Seger, R ;
Strina, D ;
Ugazio, A ;
Väliaho, J ;
Vihinen, M ;
Vogler, LB ;
Ochs, H ;
Vezzoni, P ;
Friedrich, W ;
Schwarz, K .
BLOOD, 2001, 97 (01) :81-88
[9]   Expansion of immunoglobulin-secreting cells and defects in B cell tolerance in Rag-dependent immunodeficiency [J].
Walter, Jolan E. ;
Rucci, Francesca ;
Patrizi, Laura ;
Recher, Mike ;
Regenass, Stephan ;
Paganini, Tiziana ;
Keszei, Marton ;
Pessach, Itai ;
Lang, Philipp A. ;
Poliani, Pietro Luigi ;
Giliani, Silvia ;
Al-Herz, Waleed ;
Cowan, Morton J. ;
Puck, Jennifer M. ;
Bleesing, Jack ;
Niehues, Tim ;
Schuetz, Catharina ;
Malech, Harry ;
DeRavin, Suk See ;
Facchetti, Fabio ;
Gennery, Andrew R. ;
Andersson, Emma ;
Kamani, Naynesh R. ;
Sekiguchi, JoAnn ;
Alenezi, Hamid M. ;
Chinen, Javier ;
Dbaibo, Ghassan ;
ElGhazali, Gehad ;
Fontana, Adriano ;
Pasic, Srdjan ;
Detre, Cynthia ;
Terhorst, Cox ;
Alt, Frederick W. ;
Notarangelo, Luigi D. .
JOURNAL OF EXPERIMENTAL MEDICINE, 2010, 207 (07) :1541-1554