Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia

Journal of Experimental Medicine

Volumn 212, Issue 6, 2015, Pages 939-951

  Boisson, Bertrand ^a   Laplantine, Emmanuel ^b   Dobbs, Kerry ^c   Cobat, Aurélie ^d,g   Tarantino, Nadine ^b   Hazen, Melissa ^c   Lidov, Hart G W ^c   Hopkins, Gregory ^c   Du, Likun ^c   Belkadi, Aziz ^d,g   Chrabieh, Maya ^d,g   Itan, Yuval ^a   Picard, Capucine ^a,d,e,g   Fournet, Jean Christophe ^g   Eibel, Hermann ^h   Tsitsikov, Erdyni ^c   Pai, Sung Yun ^c   Abel, Laurent ^a,d,g   Al Herz, Waleed ^i,j   Casanova, Jean Laurent ^a,d,f,g,k   Israel, Alain ^b   Notarangelo, Luigi D ^c,l   more..

^a ROCKEFELLER UNIVERSITY   (United States)

^b CNRS   (France)

^c HARVARD MEDICAL SCHOOL   (United States)

^d IMAGINE INSTITUTE   (France)

^e ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^f HÔPITAL NECKER ENFANTS MALADES   (France)

^g UNIVERSITÉ PARIS DESCARTES   (France)

^h UNIVERSITY OF FREIBURG   (Germany)

ⁱ AL SABAH HOSPITAL   (Kuwait)

^j KUWAIT UNIVERSITY   (Kuwait)

^k HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^l HARVARD STEM CELL INSTITUTE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ALBUMIN; ALPHA 1 ANTITRYPSIN; BCG VACCINE; C REACTIVE PROTEIN; COLCHICINE; COMPLEMENTARY DNA; COTRIMOXAZOLE; FUROSEMIDE; HAPTOGLOBIN; HOIL 1 INTERACTING PROTEIN; I KAPPA B KINASE; IMMUNOGLOBULIN; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; IMMUNOGLOBULIN G; INTERLEUKIN 1BETA; IRON; LINEAR UBIQUITINATION CHAIN ASSEMBLY COMPLEX; MESSENGER RNA; MULTIPROTEIN COMPLEX; NAPROXEN; OCTREOTIDE; PROTEIN ANTIBODY; RECOMBINANT GROWTH HORMONE; RIFAMPICIN; SHANK ASSOCIATED RH DOMAIN INTERACTING PROTEIN; TETANUS TOXOID; TRIACYLGLYCEROL; TUMOR NECROSIS FACTOR; UBIQUITIN PROTEIN LIGASE E3; UNCLASSIFIED DRUG; VITAMIN D; CD40 LIGAND; HOIL-1 PROTEIN, HUMAN; RNF31 PROTEIN, HUMAN; UBIQUITIN; UBIQUITIN PROTEIN LIGASE;

ABNORMAL LABORATORY RESULT; ADULT; AMINO TERMINAL SEQUENCE; ANEMIA; ANKLE PAIN; ANTIBIOTIC PROPHYLAXIS; ANTIBIOTIC THERAPY; ANTIBODY BLOOD LEVEL; ANTIBODY RESPONSE; ARTICLE; ARTIFICIAL VENTILATION; AUTOINFLAMMATORY DISEASE; BCG VACCINATION; BRONCHIECTASIS; CASE REPORT; CLINICAL FEATURE; COMBINED IMMUNODEFICIENCY; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; CYTOKINE PRODUCTION; DIARRHEA; DISEASE ASSOCIATION; DNA SEQUENCE; DRUG WITHDRAWAL; EDEMA; ERYTHROCYTE SEDIMENTATION RATE; FAMILIAL MEDITERRANEAN FEVER; FEMALE; FEMUR FRACTURE; FIBROBLAST; GASTROINTESTINAL HEMORRHAGE; GENE; GENE AMPLIFICATION; GENERALIZED LYMPHADENOPATHY; GENETIC COMPLEMENTATION; GENOME ANALYSIS; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; GLYCOGEN STORAGE DISEASE TYPE 4; GROWTH RETARDATION; HAEMOPHILUS INFLUENZAE; HEPATOMEGALY; HIP PAIN; HOIP GENE; HOMOZYGOSITY; HUMAN; HUMAN CELL; HYPOALBUMINEMIA; HYPOCALCEMIA; IMMUNOGLOBULIN DEFICIENCY; IMMUNOLOGICAL PROCEDURES; INFUSION THERAPY; INTESTINE LYMPHANGIECTASIA; IRON DEFICIENCY; KNEE PAIN; LABORATORY TEST; LIMB WEAKNESS; LINKAGE ANALYSIS; LOW FAT DIET; LYMPH NODE BIOPSY; LYMPHANGIECTASIS; LYMPHANGIOGRAPHY; LYMPHATIC SYSTEM DISEASE; LYMPHOCYTOPENIA; MINERAL SUPPLEMENTATION; MISSENSE MUTATION; MONOCYTE; MOUTH ULCER; MUSCLE ATROPHY; MYCOBACTERIOSIS; OMPHALITIS; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN BLOOD LEVEL; PROTEIN DEGRADATION; PROTEIN DIET; PROTEIN INDUCTION; PROTEIN LOCALIZATION; PROTEIN PHOSPHORYLATION; PROTEIN STABILITY; PROTEIN SYNTHESIS INHIBITION; RECURRENT FEVER; RESPIRATORY DISTRESS; SPLENOMEGALY; STREPTOCOCCUS PNEUMONIAE; STUNTING; SUBSTITUTION THERAPY; TRIACYLGLYCEROL BLOOD LEVEL; UPREGULATION; VERRUCA VULGARIS; VIDEOENDOSCOPY; VITAMIN D DEFICIENCY; VITAMIN SUPPLEMENTATION; YOUNG ADULT; ALLELE; AMINO ACID SEQUENCE; CATALYSIS; CHEMISTRY; DEFICIENCY; GENE EXPRESSION REGULATION; GENETICS; GERMLINE MUTATION; HOMOZYGOTE; IMMUNE DEFICIENCY; INFLAMMATION; METABOLISM; PATHOLOGY; SEQUENCE HOMOLOGY;

ALLELES; AMINO ACID SEQUENCE; CATALYSIS; CD40 LIGAND; FEMALE; FIBROBLASTS; GENE EXPRESSION REGULATION; GENETIC COMPLEMENTATION TEST; GERM-LINE MUTATION; GLYCOGEN STORAGE DISEASE TYPE IV; HOMOZYGOTE; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; INFLAMMATION; LYMPHANGIECTASIS; MONOCYTES; MUTATION, MISSENSE; NF-KAPPA B; SEQUENCE HOMOLOGY, AMINO ACID; UBIQUITIN; UBIQUITIN-PROTEIN LIGASES; YOUNG ADULT;

EID: 84980347632     PISSN: 00221007     EISSN: 15409538     Source Type: Journal    
DOI: 10.1084/jem.20141130     Document Type: Article

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