Abstract | OBJECTIVE: METHODS: Clinical information was gathered from medical records and through interviews with 5 patients from 4 kindreds. PSTPIP1 ( CD2BP1) exon 10 and exon 11 sequencing was performed in each patient. Neutrophil granule content and cytokine levels were determined in plasma and stimulated peripheral blood mononuclear cells (PBMCs) from patients and controls. RESULTS: CONCLUSION: This analysis of 5 patients demonstrates that mutations in PSTPIP1 are incompletely penetrant and variably expressed in the PAPA syndrome. Neutrophil granule proteins are markedly elevated ex vivo and in the plasma, and elevated levels might be compatible with a diagnosis of PAPA syndrome. TNFα blockade appears to be effective in treating the cutaneous manifestations of PAPA syndrome.
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Authors | Andrew P Demidowich, Alexandra F Freeman, Douglas B Kuhns, Ivona Aksentijevich, John I Gallin, Maria L Turner, Daniel L Kastner, Steven M Holland |
Journal | Arthritis and rheumatism
(Arthritis Rheum)
Vol. 64
Issue 6
Pg. 2022-7
(Jun 2012)
ISSN: 1529-0131 [Electronic] United States |
PMID | 22161697
(Publication Type: Case Reports, Journal Article, Research Support, N.I.H., Extramural, Research Support, N.I.H., Intramural)
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Copyright | Copyright © 2012 by the American College of Rheumatology. |
Chemical References |
- Adaptor Proteins, Signal Transducing
- Antirheumatic Agents
- Cytoskeletal Proteins
- Interleukin 1 Receptor Antagonist Protein
- PSTPIP1 protein, human
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Topics |
- Acne Vulgaris
(diagnosis, drug therapy, genetics)
- Adaptor Proteins, Signal Transducing
(genetics)
- Adolescent
- Antirheumatic Agents
(therapeutic use)
- Arthritis, Infectious
(diagnosis, drug therapy, genetics)
- Child
- Cytoskeletal Proteins
(genetics)
- Disease Progression
- Female
- Genotype
- Humans
- Infant, Newborn
- Interleukin 1 Receptor Antagonist Protein
(therapeutic use)
- Male
- Middle Aged
- Mutation
- Phenotype
- Pyoderma Gangrenosum
(diagnosis, drug therapy, genetics)
- Syndrome
- Treatment Outcome
- Young Adult
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