Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency

Blood

Volumn 126, Issue 14, 2015, Pages 1658-1669

  Fuchs, Sebastian ^a,b   Rensing Ehl, Anne ^a   Pannicke, Ulrich ^c   Lorenz, Myriam R ^c   Fisch, Paul ^a   Jeelall, Yogesh ^d   Rohr, Jan ^a   Speckmann, Carsten ^a   Vraetz, Thomas ^a   Farmand, Susan ^e   Schmitt Graeff, Annette ^a   Krüger, Marcus ^a   Strahm, Brigitte ^a   Henneke, Philipp ^a   Enders, Anselm ^d   Horikawa, Keisuke ^d   Goodnow, Christopher ^d   Schwarz, Klaus ^c,f   Ehl, Stephan ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

^b UNIVERSITY OF FREIBURG   (Germany)

^c UNIVERSITY OF ULM   (Germany)

^d Australian National University   (Australia)

^e KAROLINSKA INSTITUTE   (Sweden)

^f Institute of Transfusion Medicine   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CASPASE RECRUITMENT DOMAIN PROTEIN 11; IMMUNOGLOBULIN A; IMMUNOGLOBULIN E; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; IMMUNOGLOBULIN G; IMMUNOGLOBULIN M; INTERLEUKIN 2; IONOMYCIN; PROTEIN; TRANSCRIPTION FACTOR FOXP3; UNCLASSIFIED DRUG; CARD11 PROTEIN, HUMAN; CASPASE RECRUITMENT DOMAIN SIGNALING PROTEIN; GUANYLATE CYCLASE;

ANIMAL CELL; ANIMAL CELL CULTURE; ARTICLE; B LYMPHOCYTE; B LYMPHOCYTE ACTIVATION; CARD11 DEFICIENCY; CASE REPORT; CAUSE OF DEATH; CD4+ CD25+ T LYMPHOCYTE; CD8+ T LYMPHOCYTE; CHILD; CLINICAL FEATURE; COMPARATIVE STUDY; CONGESTIVE HEART FAILURE; CONTROLLED STUDY; CYTOKINE PRODUCTION; CYTOMEGALOVIRUS INFECTION; CYTOMEGALOVIRUS RETINITIS; DISEASE SEVERITY; ECZEMA; ENTEROCOCCAL INFECTION; EOSINOPHILIA; ERYTHRODERMA; FEMALE; GAIN OF FUNCTION MUTATION; GENERALIZED LYMPHADENOPATHY; GENETIC ANALYSIS; GENETIC VARIABILITY; GERMLINE MUTATION; HEPATOSPLENOMEGALY; HUMAN; HUMAN CELL; HUMAN METAPNEUMOVIRUS INFECTION; HUMAN TISSUE; IMMUNOBLOTTING; IMMUNOGLOBULIN BLOOD LEVEL; INTERSTITIAL PNEUMONIA; LIMIT OF DETECTION; LUNG LAVAGE; LYMPH NODE BIOPSY; LYMPHOCYTIC INFILTRATION; MALE; MICROCEPHALY; MISSENSE MUTATION; MOUSE; MUSCLE HYPOTONIA; NONHUMAN; OMENN SYNDROME; PERIPHERAL BLOOD MONONUCLEAR CELL; PNEUMOCYSTOSIS; PRE T LYMPHOCYTE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PROTEIN EXPRESSION; PSEUDOMONAS INFECTION; RHINOVIRUS INFECTION; SEIZURE; SEPSIS; SKIN BIOPSY; SOMATIC MUTATION; STAPHYLOCOCCUS INFECTION; STOP CODON; T LYMPHOCYTE; T LYMPHOCYTE ACTIVATION; ANIMAL; DEFICIENCY; FLOW CYTOMETRY; GENETICS; IMMUNOHISTOCHEMISTRY; IMMUNOLOGY; IMMUNOPHENOTYPING; INFANT; LYMPHOCYTE ACTIVATION; MUTATION; REAL TIME POLYMERASE CHAIN REACTION; REGULATORY T LYMPHOCYTE; SEVERE COMBINED IMMUNODEFICIENCY; SIBLING;

ANIMALS; CARD SIGNALING ADAPTOR PROTEINS; FEMALE; FLOW CYTOMETRY; GUANYLATE CYCLASE; HUMANS; IMMUNOBLOTTING; IMMUNOHISTOCHEMISTRY; IMMUNOPHENOTYPING; INFANT; LYMPHOCYTE ACTIVATION; MALE; MICE; MUTATION; REAL-TIME POLYMERASE CHAIN REACTION; SEVERE COMBINED IMMUNODEFICIENCY; SIBLINGS; T-LYMPHOCYTES, REGULATORY;

EID: 84947998118     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2015-03-631374     Document Type: Article

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