Atypical manifestation of LRBA deficiency with predominant IBD-like phenotype

Inflammatory Bowel Diseases

Volumn 21, Issue 1, 2015, Pages 40-47

  Serwas, Nina Kathrin ^a   Kansu, Aydan ^b   Santos Valente, Elisangela ^a   Kuloǧlu, Zarife ^b   Demir, Arzu ^b   Yaman, Aytaç ^b   Diaz, Laura Yaneth Gamez ^c   Artan, Reha ^d   Sayar, Ersin ^e   Ensari, Arzu ^b   Grimbacher, Bodo ^c   Boztug, Kaan ^a,f  

^a ERICH SCHMID INSTITUTE OF MATERIALS SCIENCE   (Austria)

^b ANKARA UNIVERSITY   (Turkey)

^c UNIVERSITY OF FREIBURG   (Germany)

^d AKDENIZ UNIVERSITY   (Turkey)

^e KONYA TRAINING AND RESEARCH HOSPITAL   (Turkey)

^f MEDICAL UNIVERSITY OF VIENNA   (Austria)

Author keywords

Autoimmunity; Exome sequencing; Inflammatory bowel disease; LRBA

Indexed keywords

ALBUMIN; AMMONIA; COMPLEMENT COMPONENT C3D RECEPTOR; CYCLOSPORIN A; LACTIC ACID; LIPOPOLYSACCHARIDE; LIPOPOLYSACCHARIDE RESPONSIVE AND BEIGE LIKE ANCHOR; STEROID; UNCLASSIFIED DRUG; LRBA PROTEIN, HUMAN; SIGNAL TRANSDUCING ADAPTOR PROTEIN; STOP CODON;

ADOLESCENT; AMMONIA BLOOD LEVEL; ANEMIA; ARTICLE; ASCITES; AUTOIMMUNE THYROIDITIS; B LYMPHOCYTE; CACHEXIA; CASE REPORT; CEREBELLUM ATROPHY; CHROMOSOME 4; CHROMOSOME 7; COLONOSCOPY; CONSANGUINEOUS MARRIAGE; DEMYELINATING NEUROPATHY; DIARRHEA; DISEASE SEVERITY; DISORDERS OF CARBOHYDRATE METABOLISM; EDEMA; EXOME; FEMALE; FLOW CYTOMETRY; GASTROINTESTINAL SYMPTOM; GENE SEQUENCE; GENETIC DISORDER; HEART FAILURE; HOMOZYGOSITY; HORMONAL THERAPY; HUMAN; HYPERBILIRUBINEMIA; HYPOALBUMINEMIA; IMMUNOBLOTTING; IMMUNOHISTOCHEMISTRY; IMMUNOPHENOTYPING; INFLAMMATORY BOWEL DISEASE; INSULIN DEPENDENT DIABETES MELLITUS; INTESTINE VILLUS ATROPHY; LACTATE BLOOD LEVEL; LIPOPOLYSACCHARIDE RESPONSIVE AND BEIGE LIKE ANCHOR DEFICIENCY; LIVER BIOPSY; LIVER FIBROSIS; LIVER HEMOSIDEROSIS; LYMPHOCYTE SUBPOPULATION; LYMPHOCYTOSIS; METABOLIC ACIDOSIS; MISSENSE MUTATION; MULTIPLE ORGAN FAILURE; NUCLEAR MAGNETIC RESONANCE IMAGING; PERICARDIAL EFFUSION; PHENOTYPE; PLEURA EFFUSION; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN STRUCTURE; PSEUDOOBSTRUCTION; RECURRENT DISEASE; SINGLE NUCLEOTIDE POLYMORPHISM; SPLENOMEGALY; STEROID THERAPY; THROMBOCYTOPENIA; THROMBOTIC THROMBOCYTOPENIC PURPURA; WESTERN BLOTTING; ENZYME IMMUNOASSAY; GENETICS; HOMOZYGOTE; INFANT; METABOLISM; PATHOLOGY; PROGNOSIS; STOP CODON;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; BLOTTING, WESTERN; CODON, NONSENSE; EXOME; FEMALE; FLOW CYTOMETRY; HOMOZYGOTE; HUMANS; IMMUNOENZYME TECHNIQUES; INFANT; INFLAMMATORY BOWEL DISEASES; PHENOTYPE; PROGNOSIS;

EID: 84925709974     PISSN: 10780998     EISSN: 15364844     Source Type: Journal    
DOI: 10.1097/MIB.0000000000000266     Document Type: Article

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