Novel NLRP12 mutations associated with intestinal amyloidosis in a patient diagnosed with common variable immunodeficiency

Clinical Immunology

Volumn 154, Issue 2, 2014, Pages 105-111

  Borte, Stephan ^a,b,c   Celiksoy, Mehmet Halil ^d   Menzel, Volker ^b   Ozkaya, Ozan ^d   Ozen, Fatma Zeynep ^d   Hammarström, Lennart ^b   Yildiran, Alisan ^d  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^b UNIVERSITY OF LEIPZIG   (Germany)

^c Klinikum St Georg   (Germany)

^d ONDOKUZ MAYIS UNIVERSITY   (Turkey)

Author keywords

Amyloidosis; Cold induced autoimmune disease; Common variable immunodeficiency; CVID; NLRP12; Periodic fever syndromes

Indexed keywords

CORTICOSTEROID; CXCL2 CHEMOKINE; CXCL9 CHEMOKINE; GAMMA INTERFERON INDUCIBLE PROTEIN 10; IMMUNOGLOBULIN; IMMUNOGLOBULIN A; IMMUNOGLOBULIN G; IMMUNOGLOBULIN M; INTERLEUKIN 1BETA; METHOTREXATE; NOD LIKE RECEPTOR P12; NUCLEOTIDE BINDING OLIGOMERIZATION DOMAIN LIKE RECEPTOR; PREDNISOLONE; RANTES; TUMOR NECROSIS FACTOR ALPHA; UNCLASSIFIED DRUG; ALBUMIN; AMYLOID; CD16 ANTIGEN; CD19 ANTIGEN; CD3 ANTIGEN; CD45 ANTIGEN; CD56 ANTIGEN; HUMAN ALBUMIN; IMMUNOGLOBULIN E; INFLIXIMAB; PROTEIN; SERUM ALBUMIN; TRANSCRIPTOME;

ADULT; AMYLOIDOSIS; ARTICLE; AUTOIMMUNITY; CASE REPORT; CLINICAL FEATURE; COMMON VARIABLE IMMUNODEFICIENCY; DISEASE ASSOCIATION; DISEASE COURSE; ENTEROPATHY; FEMALE; GENE MUTATION; GENE SEQUENCE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOGLOBULIN BLOOD LEVEL; IMMUNOSUPPRESSIVE TREATMENT; INTESTINE AMYLOIDOSIS; INTESTINE BIOPSY; JUVENILE RHEUMATOID ARTHRITIS; LOW DRUG DOSE; LYMPHOCYTE SUBPOPULATION; PRIORITY JOURNAL; SINGLE DRUG DOSE; SUBSTITUTION THERAPY; ABDOMINAL PAIN; ANKYLOSIS; BACTERIAL PNEUMONIA; BRONCHIECTASIS; CERVICAL LYMPHADENOPATHY; CHRONIC DIARRHEA; CHRONIC INFLAMMATION; CORTICOSTEROID THERAPY; DIARRHEA; EXOME; GENE IDENTIFICATION; GENETIC ASSOCIATION; HYPOALBUMINEMIA; INTESTINAL AMYLOIDOSIS; KNEE ARTHRITIS; LUNG INFECTION; LYMPH NODE BIOPSY; LYMPHADENOPATHY; PATIENT COUNSELING; PHENOTYPE; PROTEIN BLOOD LEVEL; PROTEIN DEPLETION; PROTEINURIA; RASH; RECURRENT FEVER; SEPTIC SHOCK; SHOULDER ARTHRITIS; SPLENOMEGALY; THORAX RADIOGRAPHY; TREATMENT RESPONSE; URINALYSIS; URTICARIA; YOUNG ADULT;

AMYLOIDOSIS; COLD-INDUCED AUTOIMMUNE DISEASE; COMMON VARIABLE IMMUNODEFICIENCY; CVID; NLRP12; PERIODIC FEVER SYNDROMES;

AMYLOIDOSIS; COMMON VARIABLE IMMUNODEFICIENCY; FEMALE; GENE EXPRESSION REGULATION; HUMANS; INTESTINAL DISEASES; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MUTATION; RNA; YOUNG ADULT;

EID: 84905269468     PISSN: 15216616     EISSN: 15217035     Source Type: Journal    
DOI: 10.1016/j.clim.2014.07.003     Document Type: Article

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