Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency

Nature Immunology

Volumn 13, Issue 12, 2012, Pages 1178-1186

  Boisson, Bertrand ^a   Laplantine, Emmanuel ^b   Prando, Carolina ^a   Giliani, Silvia ^c   Israelsson, Elisabeth ^d   Xu, Zhaohui ^e   Abhyankar, Avinash ^a   Israël, Laura ^f,g   Trevejo Nunez, Giraldina ^a   Bogunovic, Dusan ^a   Cepika, Alma Martina ^e   MacDuff, Donna ^h   Chrabieh, Maya ^f,g   Hubeau, Marjorie ^f,g   Bajolle, Fanny ⁱ   Debré, Marianne ⁱ   Mazzolari, Evelina ^c   Vairo, Donatella ^c   Agou, Fabrice ^b   Virgin, Herbert W ^h   Bossuyt, Xavier ^j   Rambaud, Caroline ^k   Facchetti, Fabio ^c   Bonnet, Damien ^g,i   Quartier, Pierre ^g,i   Fournet, Jean Christophe ^g,i   Pascual, Virginia ^e   Chaussabel, Damien ^d,e   Notarangelo, Luigi D ^l   Puel, Anne ^f,g   Israël, Alain ^b   Casanova, Jean Laurent ^a,f,g,i   Picard, Capucine ^f,g,i   more..

^a ROCKEFELLER UNIVERSITY   (United States)

^b CNRS   (France)

^c UNIVERSITY OF BRESCIA   (Italy)

^d BENAROYA RESEARCH INSTITUTE   (United States)

^e BAYLOR INSTITUTE FOR IMMUNOLOGY RESEARCH   (United States)

^f IMAGINE INSTITUTE   (France)

^g UNIVERSITÉ PARIS DESCARTES   (France)

^h WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

ⁱ HÔPITAL NECKER ENFANTS MALADES   (France)

^j UNIVERSITY OF LEUVEN   (Belgium)

^k ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^l BOSTON CHILDREN S HOSPITAL   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; INTERLEUKIN 1BETA; PROTEIN HOIL 1; PROTEIN LINEAR UBIQUITINATION CHAIN ASSEMBLY COMPLEX; UBIQUITIN; UNCLASSIFIED DRUG;

ARTICLE; BACTERIAL INFECTION; CELL TYPE; CONTROLLED STUDY; FIBROBLAST; GENE EXPRESSION; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNE DEFICIENCY; LOSS OF FUNCTION MUTATION; MONOCYTE; PRIORITY JOURNAL; PROTEIN DEFICIENCY; UBIQUITINATION;

BACTERIAL INFECTIONS; CELL CYCLE PROTEINS; CELL LINE; FIBROBLASTS; GLYCOGEN STORAGE DISEASE TYPE IV; HEREDITARY AUTOINFLAMMATORY DISEASES; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; INTERLEUKIN-1BETA; MONOCYTES; NF-KAPPA B; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PROTEIN-SERINE-THREONINE KINASES; REPRESSOR PROTEINS; UBIQUITIN-PROTEIN LIGASES; UBIQUITINATION;

EID: 84869429707     PISSN: 15292908     EISSN: 15292916     Source Type: Journal    
DOI: 10.1038/ni.2457     Document Type: Article

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