Identification of a homozygous PSTPIP1 mutation in a patient with a PAPA-like syndrome responding to canakinumab treatment

JAMA Dermatology

Volumn 149, Issue 2, 2013, Pages 209-215

  Geusau, Alexandra ^a   Mothes Luksch, Nadine ^a   Nahavandi, Hesam ^b   Pickl, Winfried F ^b   Wise, Carol A ^c   Pourpak, Zahra ^d   Ponweiser, Elisabeth ^b   Eckhart, Leopold ^b   Sunder Plassmann, Raute ^b  

^a Universitatsklinik fur Dermatologie   (Austria)

^b MEDICAL UNIVERSITY OF VIENNA   (Austria)

^c TEXAS SCOTTISH RITE HOSPITAL FOR CHILDREN   (United States)

^d TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

Author keywords

[No Author keywords available]

Indexed keywords

AMYLOID A PROTEIN; ANTIBIOTIC AGENT; ANTINUCLEAR ANTIBODY; C REACTIVE PROTEIN; CANAKINUMAB; CD16 ANTIGEN; CD64 ANTIGEN; FORMYLMETHIONYLLEUCYLPHENYLALANINE; IMMUNOGLOBULIN A; IMMUNOGLOBULIN G; IMMUNOGLOBULIN M; ISONIAZID; METHYLPREDNISOLONE; MONOCLONAL ANTIBODY CD3; PHORBOL 13 ACETATE 12 MYRISTATE; PHOSPHATASE; PHYTOHEMAGGLUTININ; PROLINE SERINE THREONINE PHOSPHATASE INTERACTING PROTEIN 1; RECOMBINANT INTERLEUKIN 1 RECEPTOR BLOCKING AGENT; RHEUMATOID FACTOR; STAPHYLOCOCCAL SUPERANTIGEN A; STAPHYLOCOCCAL SUPERANTIGEN B; SUPERANTIGEN; TETANUS TOXOID; TUBERCULIN; UNCLASSIFIED DRUG;

ACNE; ACNE CYSTICA; ADULT; ALLELE; AMINO ACID SUBSTITUTION; ANTIBIOTIC PROPHYLAXIS; ANTIGEN EXPRESSION; APHTHOUS ULCER; ARTHRALGIA; ARTICLE; BLOOD SAMPLING; CANDIDIASIS; CASE REPORT; CD4 CD8 RATIO; CD4+ T LYMPHOCYTE; CD8+ T LYMPHOCYTE; CELL ACTIVATION; CELL CULTURE; CELL STIMULATION; DERMATOLOGY; DISEASE DURATION; DISEASE EXACERBATION; DNA DETERMINATION; DRUG DOSE REDUCTION; DRUG MEGADOSE; DRUG WITHDRAWAL; EXON; FAMILY HISTORY; FEVER; GENE; GENE AMPLIFICATION; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GENOTYPE; GRANULOCYTE; HOMOZYGOSITY; HOSPITAL ADMISSION; HUMAN; IMMUNOGLOBULIN BLOOD LEVEL; IMMUNOPHENOTYPING; INJECTION SITE REACTION; INTRON; IRON DEFICIENCY ANEMIA; LEG ULCER; LEUKOCYTE DIFFERENTIAL COUNT; LYMPHOCYTE COUNT; LYMPHOCYTE PROLIFERATION; LYMPHOCYTOPENIA; MALE; MEDICAL HISTORY; MONOCYTE; NEUTROPHILIA; OSTEOARTHRITIS; PAPA SYNDROME; PERIPHERAL BLOOD MONONUCLEAR CELL; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PSTPIP1 GENE; RECURRENT DISEASE; RESPIRATORY BURST; RESPIRATORY TRACT INFECTION; SEROLOGY; SERPIGINOUS ULCER; SKIN ALLERGY; SKIN ULCER; TREATMENT FAILURE; TREATMENT RESPONSE; TUBERCULIN TEST; UNSPECIFIED SIDE EFFECT;

ACNE VULGARIS; ADAPTOR PROTEINS, SIGNAL TRANSDUCING; AMINO ACID SUBSTITUTION; ANTIBODIES, MONOCLONAL; ARTHRITIS, INFECTIOUS; CYTOSKELETAL PROTEINS; HUMANS; INTERLEUKIN-1BETA; MALE; MUTATION; PYODERMA GANGRENOSUM; REMISSION INDUCTION; SEQUENCE ANALYSIS, DNA; SYNDROME; TREATMENT OUTCOME; YOUNG ADULT;

EID: 84874243013     PISSN: 21686068     EISSN: None     Source Type: Journal    
DOI: 10.1001/2013.jamadermatol.717     Document Type: Article

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