First nicastrin mutation in PASH (pyoderma gangrenosum, acne and suppurative hidradenitis) syndrome

British Journal of Dermatology

Volumn 173, Issue 2, 2015, Pages 610-612

  Duchatelet, S ^a   Miskinyte, S ^a   Join Lambert, O ^a   Ungeheuer, M N ^b   Frances C ^c   Nassif, A ^b   Hovnanian, A ^d  

^a INSERM   (France)

^b INSTITUT PASTEUR   (France)

^c HÔPITAL TENON   (France)

^d IMAGINE INSTITUTE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

GAMMA SECRETASE; NICASTRIN; PRESENILIN; PRESENILIN 1; PRESENILIN ENHANCER GAMMA SECRETASE SUBUNIT; UNCLASSIFIED DRUG; CYTOSKELETON PROTEIN; MEMBRANE PROTEIN; NICASTRIN PROTEIN; PSTPIP1 PROTEIN, HUMAN; SECRETASE; SIGNAL TRANSDUCING ADAPTOR PROTEIN;

ACNE; CLINICAL FEATURE; CODON; ENHANCER REGION; GENETIC CODE; GENOTYPE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; LETTER; LOSS OF FUNCTION MUTATION; MODIFIER GENE; PAPA SYNDROME; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; PYODERMA GANGRENOSUM; SUPPURATIVE HIDRADENITIS; ACNE VULGARIS; ADOLESCENT; ARTHRITIS, INFECTIOUS; CASE REPORT; CHILD; DIFFERENTIAL DIAGNOSIS; GENETICS; MALE; MUTATION; PEDIGREE; SYNDROME;

ACNE VULGARIS; ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADOLESCENT; AMYLOID PRECURSOR PROTEIN SECRETASES; ARTHRITIS, INFECTIOUS; CHILD; CYTOSKELETAL PROTEINS; DIAGNOSIS, DIFFERENTIAL; HIDRADENITIS SUPPURATIVA; HUMANS; MALE; MEMBRANE GLYCOPROTEINS; MUTATION; PEDIGREE; PYODERMA GANGRENOSUM; SYNDROME;

EID: 84941119905     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/bjd.13668     Document Type: Letter

References (8)

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2. Marzano AV, Trevisan V, Gattorno M, et al,. Pyogenic arthritis, pyoderma gangrenosum, acne, and hidradenitis suppurativa (PAPASH): a new autoinflammatory syndrome associated with a novel mutation of the PSTPIP1 gene. JAMA Dermatol 2013; 149: 762-4.
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