Ask about this productRelated genes to: PSTPIP1 antibody
- Gene:
- PSTPIP1 NIH gene
- Name:
- proline-serine-threonine phosphatase interacting protein 1
- Previous symbol:
- -
- Synonyms:
- PSTPIP, CD2BP1L, CD2BP1, CD2BP1S, H-PIP, PAPAS
- Chromosome:
- 15q24.3
- Locus Type:
- gene with protein product
- Date approved:
- 1999-01-12
- Date modifiied:
- 2019-04-23
Related products to: PSTPIP1 antibody
Related articles to: PSTPIP1 antibody
- PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome is a rare autoinflammatory disorder. Systemic inflammation, cytopenia, and skin lesions are classic features, accompanied by hypercalprotectinemia and hyperzincemia. Gastrointestinal manifestations such as colitis are infrequent. We present the first case in Thailand of PAMI syndrome presenting as refractory colitis. - Source: PubMed
Publication date: 2026/06/25
Rodsaward PongsawatKiattikunrat KeeratiTangnuntachai NichthidaBuranapraditkun SupraneeKlaewsongkram Jettanong - Pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome is a rare autosomal dominant hereditary autoinflammatory disease caused by gene variants and belongs to the -associated inflammatory diseases (PAIDs). Its core clinical manifestations include recurrent pyogenic arthritis, pyoderma gangrenosum, and severe acne with onset in childhood or adolescence. Some patients may also present with multisystem involvement, such as inflammatory bowel disease and scleritis. Inflammation markers, such as CRP and ESR, are often significantly elevated. Treatment mainly involves targeted inhibition of inflammatory pathways, such as IL-1 inhibitors and TNF-α inhibitors. In this article, we report a Chinese patient with PAPA syndrome with disease onset at 13 years of age, whose main manifestations were pyoderma gangrenosum and acne. Genetic testing revealed a gene variant (c.748G>A, p.Glu250Lys). We also reviewed recent literature on PAPA syndrome, summarizing its clinical manifestations, diagnosis, and treatment to enhance physicians' understanding of the condition. - Source: PubMed
Publication date: 2026/06/11
Wang MengmengZhang PingShen Min - Protein tyrosine phosphatase nonreceptor type 22 (PTPN22) is a key negative regulator of T cell activation, acting with C-terminal Src kinase (Csk) to suppress early T cell receptor (TCR) signaling and maintain immune tolerance. Given that the autoimmune disease-associated R620W variant alters T cell responses, we investigated the effects of PTPN22 on T cell activation. We identified a role for PTPN22 in modulating cytoskeletal dynamics at the immunological synapse in Jurkat cells through its interaction with proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1), a cytoskeletal adaptor protein that recruits actin nucleation-promoting factors, including WASp, to the TCR. PTPN22 deficiency or inhibition disrupted Arp2/3-dependent actin remodeling, leading to excessive central F-actin foci, PSTPIP1 mislocalization, and enhanced Ca signaling, especially under low-affinity stimulation of the TCR. Super-resolution DNA-PAINT analysis revealed that loss of PTPN22 promoted aberrant PSTPIP1-TCR nanoscale colocalization and increased TCR clustering. These findings uncover a PTPN22-PSTPIP1 signaling axis that is critical for regulating cytoskeletal remodeling and receptor organization, providing insights into T cell hyperactivation that may be relevant to autoimmune disease. - Source: PubMed
Publication date: 2026/06/09
Joseph Megan DZaza CeciliaDalby Olivia P LKirtsios EfstratiosDustin Michael LCope Andrew PSimoncelli Sabrina - Mutations in the gene PSTPIP1 may cause several different autoinflammatory syndromes, but the mechanisms by which distinct PSTPIP1 mutations lead to these differing phenotypes are not fully understood. The two best characterized autoinflammatory conditions resulting from PSTPIP1 mutation are pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome and PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome. Here, we report a novel gain-of-function PSTPIP1 mutation (p.N236K) causing PAMI syndrome in a patient with systemic autoinflammation and severe neutropenia. This mutant form of PSTPIP1 shows increased binding to pyrin and leads to heightened inflammasome formation, relative to WT PSTPIP1. We also identify a transcriptional signature in blood from PAMI patients suggestive of enhanced T cell activation and altered neutrophil survival and/or function. Further research on PSTPIP1-related autoinflammatory conditions is needed to more deeply understand the genetic and immunological drivers of disease and contribute to improving patient outcomes. - Source: PubMed
Publication date: 2026/01/23
Cook SarahNomula KranthiCross Claire EGil Hwi MChoi Joseph MKaviany SaaraConnelly James AChang Christopher CMarkle Janet G - Familial Mediterranean Fever (FMF) is traditionally linked to mutations. However, many patients remain genetically unexplained after routine screening. This study evaluates the utility of Next-Generation Sequencing (NGS) in patients with negative or heterozygous results from fragment analysis. - Source: PubMed
Publication date: 2026/04/19
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