A hypomorphic recombination-activating gene 1 (RAG1) mutation resulting in a phenotype resembling common variable immunodeficiency
- Author
- ABOLHASSANI, Hassan1 2 ; NING WANG1 ; AGHAMOHAMMADI, Asghar2 ; REZAEI, Nima2 ; YU NEE LEE3 ; FRUGONI, Francesco3 ; NOTARANGELO, Luigi D3 ; PAN-HAMMARSTROM, Qiang1 ; HAMMARSTRÖM, Lennart1
[1] Division of Clinical Immunology, Department of Laboratory Medicine. Karolinska Institute at Karolinska University Hospital Huddinge, Stockholm, Sweden
[2] Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Science, Tehran, Sweden
[3] Division of Immunology and the Manton Center for Orphan Disease Research, Boston Children's Hospital, and the Harvard Stem Cell Institute, Harvard Medical School, Boston, United States - Source
Journal of allergy and clinical immunology. 2014, Vol 134, Num 6, pp 1375-1380, 6 p ; ref : 43 ref
- CODEN
- JACIBY
- ISSN
- 0091-6749
- Scientific domain
- Dermatology; Immunology, immunopathology, allergology; Pneumology
- Publisher
- Elsevier, New York, NY
- Publication country
- United States
- Document type
- Article
- Language
- English
- Author keyword
- Common variable immunodeficiency differential diagnosis granulomatous lesion mismanagement recombination activation genes
- Keyword (fr)
- Activation Diagnostic différentiel Génétique Immunodéficit commun variable Immunologie Immunopathologie Lésion Mutation Phénotype Recombinaison Gène Rag1 Immunoglobulinopathie
- Keyword (en)
- Activation Differential diagnostic Genetics Common variable immunodeficiency Immunology Immunopathology Lesion Mutation Phenotype Recombination Immunoglobulinopathy
- Keyword (es)
- Activación Diagnóstico diferencial Genética Inmunodefícito común variable Inmunología Inmunopatología Lesión Mutación Fenotipo Recombinación Inmunoglobulinopatía
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A06 Fundamental immunology
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B06 Immunopathology / 002B06D Immunodeficiencies. Immunoglobulinopathies / 002B06D01 Immunodeficiencies
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B07 Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis
- Discipline
- Fundamental immunology Immunopathology Sarcoidosis. Granulomatosis of undetermined origin. Connective tissue diseases. Vasculitides
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 29053076
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
Access to the document
Install on your browser
DOI
10.1016/j.jaci.2014.04.042 
https://dx.doi.org/10.1016/j.jaci.2014.04.042
"O:13:\"PanistOpenUrl\":36:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000idc\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:26:\"10.1016\/j.jaci.2014.04.042\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:130:\"A hypomorphic recombination-activating gene 1 (RAG1) mutation resulting in a phenotype resembling common variable immunodeficiency\";s:9:\"\u0000*\u0000jtitle\";s:42:\"Journal of allergy and clinical immunology\";s:9:\"\u0000*\u0000stitle\";s:24:\"J. allergy clin. immunol\";s:7:\"\u0000*\u0000date\";s:4:\"2014\";s:9:\"\u0000*\u0000volume\";s:3:\"134\";s:8:\"\u0000*\u0000issue\";s:1:\"6\";s:8:\"\u0000*\u0000spage\";s:4:\"1375\";s:8:\"\u0000*\u0000epage\";s:4:\"1380\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0091-6749\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:11:\"ABOLHASSANI\";s:10:\"\u0000*\u0000aufirst\";s:6:\"Hassan\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:8:{i:0;s:9:\"NING WANG\";i:1;s:21:\"AGHAMOHAMMADI, Asghar\";i:2;s:12:\"REZAEI, Nima\";i:3;s:10:\"YU NEE LEE\";i:4;s:18:\"FRUGONI, Francesco\";i:5;s:20:\"NOTARANGELO, Luigi D\";i:6;s:22:\"PAN-HAMMARSTROM, Qiang\";i:7;s:21:\"HAMMARSTR\u00d6M, Lennart\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"JACIBY\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:130:\"A hypomorphic recombination-activating gene 1 (RAG1) mutation resulting in a phenotype resembling common variable immunodeficiency\";s:8:\"\u0000*\u0000place\";s:12:\"New York, NY\";s:6:\"\u0000*\u0000pub\";s:8:\"Elsevier\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"6\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
Panist access
"O:12:\"IstexOpenUrl\":35:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:26:\"10.1016\/j.jaci.2014.04.042\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:130:\"A hypomorphic recombination-activating gene 1 (RAG1) mutation resulting in a phenotype resembling common variable immunodeficiency\";s:9:\"\u0000*\u0000jtitle\";s:42:\"Journal of allergy and clinical immunology\";s:9:\"\u0000*\u0000stitle\";s:24:\"J. allergy clin. immunol\";s:7:\"\u0000*\u0000date\";s:4:\"2014\";s:9:\"\u0000*\u0000volume\";s:3:\"134\";s:8:\"\u0000*\u0000issue\";s:1:\"6\";s:8:\"\u0000*\u0000spage\";s:4:\"1375\";s:8:\"\u0000*\u0000epage\";s:4:\"1380\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0091-6749\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:11:\"ABOLHASSANI\";s:10:\"\u0000*\u0000aufirst\";s:6:\"Hassan\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:8:{i:0;s:9:\"NING WANG\";i:1;s:21:\"AGHAMOHAMMADI, Asghar\";i:2;s:12:\"REZAEI, Nima\";i:3;s:10:\"YU NEE LEE\";i:4;s:18:\"FRUGONI, Francesco\";i:5;s:20:\"NOTARANGELO, Luigi D\";i:6;s:22:\"PAN-HAMMARSTROM, Qiang\";i:7;s:21:\"HAMMARSTR\u00d6M, Lennart\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"JACIBY\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:130:\"A hypomorphic recombination-activating gene 1 (RAG1) mutation resulting in a phenotype resembling common variable immunodeficiency\";s:8:\"\u0000*\u0000place\";s:12:\"New York, NY\";s:6:\"\u0000*\u0000pub\";s:8:\"Elsevier\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"6\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
Istex access
"O:16:\"UnpaywallOpenUrl\":35:{s:8:\"\u0000*\u0000email\";s:27:\"assistance-portail@inist.fr\";s:6:\"\u0000*\u0000fmt\";N;s:6:\"\u0000*\u0000doi\";s:26:\"10.1016\/j.jaci.2014.04.042\";s:6:\"\u0000*\u0000pii\";N;s:7:\"\u0000*\u0000pmid\";N;s:9:\"\u0000*\u0000atitle\";N;s:9:\"\u0000*\u0000jtitle\";N;s:9:\"\u0000*\u0000stitle\";N;s:7:\"\u0000*\u0000date\";N;s:9:\"\u0000*\u0000volume\";N;s:8:\"\u0000*\u0000issue\";N;s:8:\"\u0000*\u0000spage\";N;s:8:\"\u0000*\u0000epage\";N;s:8:\"\u0000*\u0000pages\";N;s:7:\"\u0000*\u0000issn\";N;s:8:\"\u0000*\u0000eissn\";N;s:9:\"\u0000*\u0000aulast\";N;s:10:\"\u0000*\u0000aufirst\";N;s:9:\"\u0000*\u0000auinit\";N;s:10:\"\u0000*\u0000auinitm\";N;s:5:\"\u0000*\u0000au\";N;s:9:\"\u0000*\u0000aucorp\";N;s:7:\"\u0000*\u0000isbn\";N;s:8:\"\u0000*\u0000coden\";N;s:8:\"\u0000*\u0000genre\";N;s:7:\"\u0000*\u0000part\";N;s:9:\"\u0000*\u0000btitle\";N;s:8:\"\u0000*\u0000title\";N;s:8:\"\u0000*\u0000place\";N;s:6:\"\u0000*\u0000pub\";N;s:10:\"\u0000*\u0000edition\";N;s:9:\"\u0000*\u0000tpages\";N;s:9:\"\u0000*\u0000series\";N;s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";N;}"
Unpaywall access
"O:16:\"EuropePMCOpenUrl\":35:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:26:\"10.1016\/j.jaci.2014.04.042\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:130:\"A hypomorphic recombination-activating gene 1 (RAG1) mutation resulting in a phenotype resembling common variable immunodeficiency\";s:9:\"\u0000*\u0000jtitle\";s:42:\"Journal of allergy and clinical immunology\";s:9:\"\u0000*\u0000stitle\";s:24:\"J. allergy clin. immunol\";s:7:\"\u0000*\u0000date\";s:4:\"2014\";s:9:\"\u0000*\u0000volume\";s:3:\"134\";s:8:\"\u0000*\u0000issue\";s:1:\"6\";s:8:\"\u0000*\u0000spage\";s:4:\"1375\";s:8:\"\u0000*\u0000epage\";s:4:\"1380\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0091-6749\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:11:\"ABOLHASSANI\";s:10:\"\u0000*\u0000aufirst\";s:6:\"Hassan\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:8:{i:0;s:9:\"NING WANG\";i:1;s:21:\"AGHAMOHAMMADI, Asghar\";i:2;s:12:\"REZAEI, Nima\";i:3;s:10:\"YU NEE LEE\";i:4;s:18:\"FRUGONI, Francesco\";i:5;s:20:\"NOTARANGELO, Luigi D\";i:6;s:22:\"PAN-HAMMARSTROM, Qiang\";i:7;s:21:\"HAMMARSTR\u00d6M, Lennart\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"JACIBY\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:130:\"A hypomorphic recombination-activating gene 1 (RAG1) mutation resulting in a phenotype resembling common variable immunodeficiency\";s:8:\"\u0000*\u0000place\";s:12:\"New York, NY\";s:6:\"\u0000*\u0000pub\";s:8:\"Elsevier\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"6\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
Europe PubMed Central access
"O:11:\"BaseOpenUrl\":35:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:26:\"10.1016\/j.jaci.2014.04.042\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:130:\"A hypomorphic recombination-activating gene 1 (RAG1) mutation resulting in a phenotype resembling common variable immunodeficiency\";s:9:\"\u0000*\u0000jtitle\";s:42:\"Journal of allergy and clinical immunology\";s:9:\"\u0000*\u0000stitle\";s:24:\"J. allergy clin. immunol\";s:7:\"\u0000*\u0000date\";s:4:\"2014\";s:9:\"\u0000*\u0000volume\";s:3:\"134\";s:8:\"\u0000*\u0000issue\";s:1:\"6\";s:8:\"\u0000*\u0000spage\";s:4:\"1375\";s:8:\"\u0000*\u0000epage\";s:4:\"1380\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0091-6749\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:11:\"ABOLHASSANI\";s:10:\"\u0000*\u0000aufirst\";s:6:\"Hassan\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:8:{i:0;s:9:\"NING WANG\";i:1;s:21:\"AGHAMOHAMMADI, Asghar\";i:2;s:12:\"REZAEI, Nima\";i:3;s:10:\"YU NEE LEE\";i:4;s:18:\"FRUGONI, Francesco\";i:5;s:20:\"NOTARANGELO, Luigi D\";i:6;s:22:\"PAN-HAMMARSTROM, Qiang\";i:7;s:21:\"HAMMARSTR\u00d6M, Lennart\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"JACIBY\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:130:\"A hypomorphic recombination-activating gene 1 (RAG1) mutation resulting in a phenotype resembling common variable immunodeficiency\";s:8:\"\u0000*\u0000place\";s:12:\"New York, NY\";s:6:\"\u0000*\u0000pub\";s:8:\"Elsevier\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"6\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
Base Search access
"O:12:\"ArXivOpenUrl\":35:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:26:\"10.1016\/j.jaci.2014.04.042\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:130:\"A hypomorphic recombination-activating gene 1 (RAG1) mutation resulting in a phenotype resembling common variable immunodeficiency\";s:9:\"\u0000*\u0000jtitle\";s:42:\"Journal of allergy and clinical immunology\";s:9:\"\u0000*\u0000stitle\";s:24:\"J. allergy clin. immunol\";s:7:\"\u0000*\u0000date\";s:4:\"2014\";s:9:\"\u0000*\u0000volume\";s:3:\"134\";s:8:\"\u0000*\u0000issue\";s:1:\"6\";s:8:\"\u0000*\u0000spage\";s:4:\"1375\";s:8:\"\u0000*\u0000epage\";s:4:\"1380\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0091-6749\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:11:\"ABOLHASSANI\";s:10:\"\u0000*\u0000aufirst\";s:6:\"Hassan\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:8:{i:0;s:9:\"NING WANG\";i:1;s:21:\"AGHAMOHAMMADI, Asghar\";i:2;s:12:\"REZAEI, Nima\";i:3;s:10:\"YU NEE LEE\";i:4;s:18:\"FRUGONI, Francesco\";i:5;s:20:\"NOTARANGELO, Luigi D\";i:6;s:22:\"PAN-HAMMARSTROM, Qiang\";i:7;s:21:\"HAMMARSTR\u00d6M, Lennart\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"JACIBY\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:130:\"A hypomorphic recombination-activating gene 1 (RAG1) mutation resulting in a phenotype resembling common variable immunodeficiency\";s:8:\"\u0000*\u0000place\";s:12:\"New York, NY\";s:6:\"\u0000*\u0000pub\";s:8:\"Elsevier\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"6\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
arXiv access
