Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder

Human Molecular Genetics

Volumn 11, Issue 8, 2002, Pages 961-969

  Wise, Carol A ^a   Gillum, Joseph D ^a   Seidman, Christine E ^b   Lindor, Noralane M ^c   Veile, Rose ^d   Bashiardes, Stavros ^d   Lovett, Michael ^d  

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

^b BRIGHAM AND WOMEN S HOSPITAL   (United States)

^c MAYO CLINIC   (United States)

^d WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIN; ADAPTOR PROTEIN; ALANINE; BINDING PROTEIN; CD2 BINDING PROTEIN 1; FUNGAL PROTEIN; GLUTAMIC ACID; GLUTAMINE; PROTEIN CDC 15; PROTEIN TYROSINE PHOSPHATASE; THREONINE; UNCLASSIFIED DRUG;

ACNE; AMINO ACID SUBSTITUTION; ARTHRITIS; ARTICLE; AUTOIMMUNE DISEASE; CHROMOSOME 15Q; CONTROLLED STUDY; CYTOSKELETON; DISEASE CLASSIFICATION; ENTERITIS; FAMILIAL RECURRENT ARTHRITIS; GENE MUTATION; HUMAN; HYPOTHESIS; INFLAMMATION; JOINT; NUCLEOTIDE SEQUENCE; PAPA SYNDROME; PRIORITY JOURNAL; PROTEIN INTERACTION; PYODERMA GANGRENOSUM; PYOGENIC STERILE ARTHRITIS; RHEUMATOID ARTHRITIS; SEQUENCE HOMOLOGY; SIGNAL TRANSDUCTION; SKIN; TWO HYBRID SYSTEM;

MURINAE;

EID: 0037091012     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/11.8.961     Document Type: Article

References (45)

1. Epidemiology and estimated population burden of selected autoimmune diseases in the United States
2. Autoimmune diseases
3. Autoimmune disease: Why and where it occurs
4. Clustering of non-major histocompatibility complex susceptibility candidate loci in human autoimmune diseases
5. Zeroing in on tolerance
6. A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease
7. CARD15 mutations in Blau syndrome
8. A new autosomal dominant disorder of pyogenic sterile arthritis, pyoderma gangrenosum, and acne: PAPA syndrome
9. Localization of a gene for familial recurrent arthritis
10. Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome maps to chromosome 15q
11. Basic local alignment search tool
12. A physical map of 30,000 human genes
13. A gene map of the human genome
14. Comparative sequencing by denaturing high-performance liquid chromatography (DHPLC)
15. A cdc15-like adaptor protein (CD2BP1) interacts with the CD2 cytoplasmic domain and regulates CD2-triggered adhesion
16. PSTPIP: A tyrosine phosphorylated cleavage furrow-associated protein that is a substrate for a PEST tyrosine phosphatase
17. The S. pombe cdc15 gene is a key element in the reorganization of F-actin at mitosis
18. Cytoskeletal protein PSTPIP1 directs the PEST-type protein tyrosine phosphatase to the c-Abl kinase to mediate Abl dephosphorylation
19. Tyrosine phosphorylation regulates the SH3-mediated binding of the Wiskott-Aldrich syndrome protein to PST PIP, a cytoskeletal-associated protein
20. Identification of a novel polyproline recognition site in the cytoskeletal associated protein, proline serine threonine phosphatase interacting protein
21. The T lymphocyte glycoprotein CD2 binds the cell surface ligand LFA-3
22. The biologic roles of CD2, CD4 and CD8 in T cell activation
23. The FMF protein, pyrin, specifically interacts with the SH3 domain of the cytoskeletal protein PSTPIP1
24. Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever
25. The gene for familial Mediterranean fever, MEFV, is expressed in early leukocyte development and is regulated in response to inflammatory mediators
26. Expression of the familial Mediterranean fever gene and activity of the C5a inhibitor in human primary fibroblast cultures
27. A fever gene comes in from the cold
28. Protein tyrosine phosphatase-PEST regulates focal adhesion disassembly, migration, and cytokinesis in fibroblasts
29. An actin-binding function contributes to transformation by the Bcr-Abl oncoprotein of Philadelphia chromosome-positive human leukemias
30. Wiskott-Aldrich syndrome protein, a novel effector for the GTPase CDC42Hs, is implicated in actin polymerization
31. Isolation of a novel gene mutated in Wiskott-Aldrich syndrome
32. The Wiskott-Aldrich syndrome protein (WASP): Roles in signaling and cytoskeletal organization
33. Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia
34. Present status of pyoderma gangrenosum
35. Pyoderma gangrenosum: A report of 44 cases with follow-up
36. Pyoderma gangrenosum: A review of 86 patients
37. Pyoderma gangrenosum in a kindred
38. Pediatric dermatology
39. Two stage genome-wide search in inflammatory bowel disease provides evidence for susceptibility loci on chromosomes 3, 7 and 12
40. Musculoskeletal syndromes associated with acne
41. Acne fulminans coexisting with pyoderma gangrenosum-like eruptions and posterior scleritis
42. Pyoderma gangrenosum associated with acne conglobata