Research & Literature

Single amino acid charge switch defines clinically distinct proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)-associated inflammatory diseases.

Holzinger D, Fassl SK, de Jager W, et al.

The Journal of allergy and clinical immunology 2015; (136(5)):1337-45.

Alarming consequences - autoinflammatory disease spectrum due to mutations in proline-serine-threonine phosphatase-interacting protein 1.

Holzinger D, Roth J

Current opinion in rheumatology 2016; (28(5)):550-9 doi:10.1097/BOR.0000000000000314.

Haematological involvement associated with a mild autoinflammatory phenotype, in two patients carrying the E250K mutation of PSTPIP1.

Belelli E, Passarelli C, Pardeo M, et al.

Clinical and experimental rheumatology 2017; (35 Suppl 108(6)):113-115.

PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome: A rare cause of childhood neutropenia associated with systemic inflammation and hyperzincemia.

Hashmi SK, Bergstrom K, Bertuch AA, et al.

Pediatric blood & cancer 2019; (66(1)):e27439 doi:10.1002/pbc.27439.

Extensive pyoderma gangrenosum-like lesions revealing a case of hyperzincemia and hypercalprotectinemia: when to suspect it?

Resende LO, Jorge MFS, Schmitt JV

Anais brasileiros de dermatologia 2019; (94(6)):713-716 doi:10.1016/j.abd.2018.12.001.

Phenotypic Associations of PSTPIP1 Sequence Variants in PSTPIP1-Associated Autoinflammatory Diseases.

Boursier G, Piram M, Rittore C, et al.

The Journal of investigative dermatology 2021; (141(5)):1141-1147 doi:10.1016/j.jid.2020.08.028.

HSCT is effective in patients with PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome.

Laberko A, Burlakov V, Maier S, et al.

The Journal of allergy and clinical immunology 2021; (148(1)):250-255.e1 doi:10.1016/j.jaci.2020.11.043.

Rare cases of PAMI syndrome in both father and son with the same missense mutation in PSTPIP1 gene and literature review.

Huang X, Xu M, Dai S, et al.

The Journal of dermatology 2021; (48(4)):519-528 doi:10.1111/1346-8138.15706.

Hemolysis and Neurologic Impairment in PAMI Syndrome: Novel Characteristics of an Elusive Disease.

Del Borrello G, Guardo D, Micalizzi C, et al.

Pediatrics 2021; (147(3)) doi:10.1542/peds.2020-0784.

PAMI syndrome: A rare cause that can be easily misdiagnosed.

Xu XM, Huang H, Ding F, et al.

American journal of medical genetics. Part A 2021; (185(10)):3074-3082 doi:10.1002/ajmg.a.62367.

Macrophage activation syndrome: A diagnostic challenge (Review).

Bojan A, Parvu A, Zsoldos IA, et al.

Experimental and therapeutic medicine 2021; (22(2)):904 doi:10.3892/etm.2021.10336.

Immunological repertoire linked to PSTPIP1-associated myeloid-related inflammatory (PAMI) syndrome.

Mendonça LO, Terreri MT, Osaku FM, et al.

Pediatric rheumatology online journal 2021; (19(1)):126 doi:10.1186/s12969-021-00617-y.

Clinical and genetic characteristics of PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome.

Zhang D, Su G, Liu Y, Lai J

Pediatric rheumatology online journal 2021; (19(1)):151 doi:10.1186/s12969-021-00636-9.

Kidney Involvement in PSTPIP1 Associated Inflammatory Diseases (PAID): A Case Report and Review of the Literature.

Borgia P, Papa R, D'Alessandro M, et al.

Frontiers in medicine 2021; (8()):759092 doi:10.3389/fmed.2021.759092.

PSTPIP1-LYP phosphatase interaction: structural basis and implications for autoinflammatory disorders.

Manso JA, Marcos T, Ruiz-Martín V, et al.

Cellular and molecular life sciences : CMLS 2022; (79(2)):131 doi:10.1007/s00018-022-04173-w.

PSTPIP1-associated myeloid-related proteinaemia inflammatory (PAMI) syndrome; a case presenting as a perinatal event with early central nervous system involvement?

Whiteside BG, Titheradge H, Al-Abadi E

Pediatric rheumatology online journal 2022; (20(1)):49 doi:10.1186/s12969-022-00707-5.

Immune-mediated inflammatory diseases with chronic excess of serum interleukin-18.

Miyazawa H, Wada T

Frontiers in immunology 2022; (13()):930141 doi:10.3389/fimmu.2022.930141.

Strong inflammatory signatures in the neutrophils of PAMI syndrome.

Zheng W, Fan X, Yang Z, et al.

Frontiers in immunology 2022; (13()):926087 doi:10.3389/fimmu.2022.926087.

Rare But Fatal: Hemophagocytic Lymphohistiocytosis (HLH) With Acute Acalculous Cholecystitis.

Javed F, Crouch J, Combs E

Cureus 2022; (14(11)):e31737 doi:10.7759/cureus.31737.

PSTPIP1-Associated Myeloid-Related Proteinemia Inflammatory (PAMI) Syndrome: A Systematic Review.

Mejbri M, Renella R, Candotti F, et al.

Genes 2023; (14(8)) doi:10.3390/genes14081655.

A very rare cause of pre-capillary pulmonary hypertension: The PAMI syndrome.

Iseppi M, Savonitto G, Tommasini A, et al.

Pulmonary circulation 2023; (13(4)):e12300 doi:10.1002/pul2.12300.

Recent Insights in Pyrin Inflammasome Activation: Identifying Potential Novel Therapeutic Approaches in Pyrin-Associated Autoinflammatory Syndromes.

Wouters F, Bogie J, Wullaert A, van der Hilst J

Journal of clinical immunology 2023; (44(1)):8 doi:10.1007/s10875-023-01621-5.

Comparison of Fecal Calprotectin with Different Endoscopic Scores in the Assessment of Ulcerative Colitis (UC) Activity and Its Utility in Differentiating IBS from IBD.

Acharya K, Bhardwaj V, Chuahan I, et al.

Euroasian journal of hepato-gastroenterology 2023; (13(2)):120-123 doi:10.5005/jp-journals-10018-1411.

Progressive increase of serum zinc level in a Pediatric patient with PSTPIP1- p.N236K mutation.

Takahashi C, Rotramel D, Dahal RA, et al.

Clinica chimica acta; international journal of clinical chemistry 2026; (579()):120646 doi:10.1016/j.cca.2025.120646.

Autoinflammatory disease and severe neutropenia due to de novo variant of PSTPIP1 with increased binding to pyrin.

Cook S, Nomula K, Cross CE, et al.

Journal of human immunity 2026; (2(2)):e20250201 doi:10.70962/jhi.20250201.

A Case Study of PSTPIP1-Associated Myeloid-Related Proteinemia Inflammatory Syndrome Masquerading as Inflammatory Bowel Disease.

Rodsaward P, Kiattikunrat K, Tangnuntachai N, et al.

Inflammatory intestinal diseases 2026; (11(1)):300-306 doi:10.1159/000553249.