Lesson from hypomorphic recombination-activating gene (RAG) mutations: Why asymptomatic siblings should also be tested

Journal of Allergy and Clinical Immunology

Volumn 133, Issue 4, 2014, Pages 1211-1215.e2

  Schuetz, Catharina ^a   Pannicke, Ulrich ^b   Jacobsen, Eva Maria ^a   Burggraf, Siegfried ^c   Albert, Michael H ^d   Hönig, Manfred ^a   Niehues, Tim ^e   Feyen, Oliver ^e,f   Ehl, Stephan ^g   Debatin, Klaus Michael ^a   Friedrich, Wilhelm ^a   Schulz, Ansgar S ^a   Schwarz, Klaus ^b,h  

^a UNIVERSITY HOSPITAL ULM   (Germany)

^b UNIVERSITY OF ULM   (Germany)

^c Labor Becker   (Germany)

^d LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^e HEINRICH HEINE UNIVERSITY   (Germany)

^f Darmstadt and Tavargenix GmbH   (Germany)

^g UNIVERSITY OF FREIBURG   (Germany)

^h German Red Cross Blood Transfusion Service Baden Württemberg Hessen and University Hospital Ulm   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CD19 ANTIGEN; CD45RA ANTIGEN; HLA ANTIGEN; IMMUNOGLOBULIN A; IMMUNOGLOBULIN G; IMMUNOGLOBULIN M; RAG1 PROTEIN; T LYMPHOCYTE RECEPTOR;

ADOLESCENT; AUTOIMMUNE HEMOLYTIC ANEMIA; CASE REPORT; CD4+ T LYMPHOCYTE; CHILD; CHRONIC DIARRHEA; CLINICAL FEATURE; CONSANGUINITY; DISEASE SEVERITY; GENE MUTATION; GENETIC ANALYSIS; GENETIC VARIABILITY; GLOMERULOSCLEROSIS; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMAN; IMMUNE COMPLEX NEPHRITIS; LETTER; LUNG INFECTION; MALE; PHENOTYPE; PRIORITY JOURNAL; RECURRENT INFECTION; SAUDI ARABIA; SCHOOL CHILD; SEVERE COMBINED IMMUNODEFICIENCY; SIBLING; STUNTING; TINEA CAPITIS; VDJ RECOMBINATION;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; FEMALE; GENETIC TESTING; HOMEODOMAIN PROTEINS; HUMANS; MALE; MUTATION; RECOMBINATION, GENETIC; SEVERE COMBINED IMMUNODEFICIENCY; SIBLINGS;

EID: 84897448055     PISSN: 00916749     EISSN: 10976825     Source Type: Journal    
DOI: 10.1016/j.jaci.2013.10.021     Document Type: Article

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