Hypomorphic Rag mutations can cause destructive midline granulomatous disease

Blood

Volumn 116, Issue 8, 2010, Pages 1263-1271

  De Ravin, Suk See ^a   Cowen, Edward W ^b   Zarember, Kol A ^a   Whiting Theobald, Narda L ^a   Kuhns, Douglas B ^c   Sandler, Netanya G ^d   Douek, Daniel C ^d   Pittaluga, Stefania ^b   Poliani, Pietro L ^e   Lee, Yu Nee ^f   Notarangelo, Luigi D ^f   Wang, Lei ^f   Alt, Frederick W ^f   Kang, Elizabeth M ^a   Milner, Joshua D ^a   Niemela, Julie E ^g   Fontana Penn, Mary ^h   Sinal, Sara H ^h   Malech, Harry L ^a  

^a NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES   (United States)

^b NATIONAL CANCER INSTITUTE   (United States)

^c SAIC FREDERICK INC   (United States)

^d NATIONAL INSTITUTES OF HEALTH   (United States)

^e UNIVERSITY OF BRESCIA   (Italy)

^f HARVARD MEDICAL SCHOOL   (United States)

^g NATIONAL INSTITUTES OF HEALTH   (United States)

^h WAKE FOREST SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOIMMUNE REGULATOR PROTEIN; CYCLOPHOSPHAMIDE; IMMUNOGLOBULIN G; INFLIXIMAB; LENALIDOMIDE; METHOTREXATE; MYCOPHENOLIC ACID; PREDNISONE; RAG1 PROTEIN; RAPAMYCIN; RITUXIMAB; T LYMPHOCYTE RECEPTOR; TRANSCRIPTION FACTOR FOXP3;

ADOLESCENT; ARTICLE; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; DRUG MEGADOSE; FLOW CYTOMETRY; GENE MUTATION; HUMAN; IMMUNE DYSREGULATION; IMMUNOHISTOCHEMISTRY; LYMPHOCYTE COUNT; MIDLINE GRANULOMA; MISSENSE MUTATION; MYASTHENIA GRAVIS; NUCLEAR MAGNETIC RESONANCE IMAGING; POSITRON EMISSION TOMOGRAPHY; PRIORITY JOURNAL; SEQUENCE ANALYSIS; THYMECTOMY; WEGENER GRANULOMATOSIS;

EID: 77956501606     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2010-02-267583     Document Type: Article

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