{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,9]],"date-time":"2026-01-09T10:12:14Z","timestamp":1767953534148,"version":"3.49.0"},"reference-count":21,"publisher":"Termedia Sp. z.o.o.","issue":"2","license":[{"start":{"date-parts":[[2021,7,14]],"date-time":"2021-07-14T00:00:00Z","timestamp":1626220800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-sa\/4.0\/"},{"start":{"date-parts":[[2021,7,14]],"date-time":"2021-07-14T00:00:00Z","timestamp":1626220800000},"content-version":"am","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-sa\/4.0\/"},{"start":{"date-parts":[[2021,7,14]],"date-time":"2021-07-14T00:00:00Z","timestamp":1626220800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-sa\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cent Eur J Immunol"],"abstract":"<jats:p>Autoinflammatory syndromes are disorders characterized by recurrent or chronic inflammation caused by the dysregulation of the innate immune system. Hemophagocytic lymphohistiocytosis (HLH) is an aggressive and life-threatening syndrome of overactivation of the immune system.&lt;br \/&gt;\nWe present a\u00a0case of a\u00a020-month-old boy who was referred to an oncology clinic because of HLH suspicion. In the preceding time, our patient suffered from a\u00a0severe form of chickenpox with prolonged fever. Tests including myelogram, cerebrospinal fluid, and magnetic resonance (MR) of the brain gave a\u00a0diagnosis of acute lymphoblastic leukemia from B lymphocyte precursors, without occupying the central nervous system. To exclude inherited HLH in our patient, next-generation sequencing was performed, which revealed a\u00a0heterozygous missense mutation in exon 15 of the PSTPIP1 gene (c.1213C&gt;T, R405C). No mutations of genes associated with familial HLH syndrome were found.&lt;br \/&gt;\nOur patient may be evidence that autoinflammatory diseases caused by PSTPIP1 gene mutations are not limited to the classical pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) phenotype but may have a\u00a0different clinical presentation, and the spectrum of the PSTPIP1-associated inflammatory diseases (PAID) syndrome is more extensive than previously thought.<\/jats:p>","DOI":"10.5114\/ceji.2021.107030","type":"journal-article","created":{"date-parts":[[2021,9,16]],"date-time":"2021-09-16T04:42:22Z","timestamp":1631767342000},"page":"270-274","source":"Crossref","is-referenced-by-count":2,"title":["Mutation in the proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1) gene in a patient with acute lymphoblastic\nleukemia"],"prefix":"10.5114","volume":"46","author":[{"given":"Ewelina","family":"Gowin","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katarzyna","family":"B\u0105bol-Pokora","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Danuta","family":"Januszkiewicz-Lewandowska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"3061","published-online":{"date-parts":[[2021,7,14]]},"reference":[{"key":"ref-1541993","doi-asserted-by":"crossref","first-page":"344","DOI":"10.3389\/fimmu.2017.00344","article-title":"Monogenic autoinflammatory diseases with mendelian inheritance: genes, mutations, and genotype\/phenotype correlations","volume":"8","author":"Martorana D","year":"2017","unstructured":"Martorana D, Bonatti F, Mozzoni P, Vaglio A, Percesepe A (2017): Monogenic autoinflammatory diseases with mendelian inheritance: genes, mutations, and genotype\/phenotype correlations. Front Immunol 8: 344.","journal-title":"Front Immunol"},{"key":"ref-1541994","doi-asserted-by":"crossref","first-page":"e0187572","DOI":"10.1371\/journal.pone.0187572","article-title":"Autoimmunity and autoinflammation: a system view on signaling pathway dysregulation profiles","volume":"12","author":"Arakelyan A","year":"2017","unstructured":"Arakelyan A, Nersisyan L, Poghosyan D, et al. (2017): Autoimmunity and autoinflammation: a system view on signaling pathway dysregulation profiles. PLoS One 12: e0187572.","journal-title":"PLoS One"},{"key":"ref-1541995","doi-asserted-by":"crossref","first-page":"167","DOI":"10.3389\/fimmu.2014.00167","article-title":"Familial hemophagocytic lymphohistiocytosis: when rare diseases shed light on immune system functioning","volume":"5","author":"Sieni E","year":"2014","unstructured":"Sieni E, Cetica V, Hackmann Y, et al. (2014): Familial hemophagocytic lymphohistiocytosis: when rare diseases shed light on immune system functioning. Front Immunol 5: 167.","journal-title":"Front Immunol"},{"key":"ref-1541996","doi-asserted-by":"crossref","first-page":"432","DOI":"10.7861\/clinmedicine.16-5-432","article-title":"Haemophagocytic lymphohistiocytosis: an elusive syndrome","volume":"16","author":"Thomas W","year":"2016","unstructured":"Thomas W, van\u2019t Veer M, Besser M (2016): Haemophagocytic lymphohistiocytosis: an elusive syndrome. Clin Med (Lond) 16: 432-436.","journal-title":"Clin Med (Lond)"},{"key":"ref-1541997","doi-asserted-by":"crossref","first-page":"e27929","DOI":"10.1002\/pbc.27929","article-title":"Challenges in the diagnosis of hemophagocytic lymphohistiocytosis: recommendations from the North American Consortium for Histiocytosis (NACHO)","volume":"66","author":"Jordan MB","year":"2019","unstructured":"Jordan MB, Allen CE, Greenberg J, et al. (2019): Challenges in the diagnosis of hemophagocytic lymphohistiocytosis: recommendations from the North American Consortium for Histiocytosis (NACHO). Pediatr Blood Cancer 66: e27929.","journal-title":"Pediatr Blood Cancer"},{"key":"ref-1541998","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1002\/pbc.21039","article-title":"HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis","volume":"48","author":"Henter JI","year":"2007","unstructured":"Henter JI, Horne A, Aric\u00f3 M, et al. (2007): HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer 48: 124-131.","journal-title":"Pediatr Blood Cancer"},{"key":"ref-1541999","doi-asserted-by":"crossref","first-page":"889","DOI":"10.1111\/j.1365-2230.2011.04137.x","article-title":"Mutations in the PSTPIP1 gene and aberrant splicing variants in patients with pyoderma gangrenosum","volume":"36","author":"Nesterovitch AB","year":"2011","unstructured":"Nesterovitch AB, Hoffman MD, Simon M, et al. (2011): Mutations in the PSTPIP1 gene and aberrant splicing variants in patients with pyoderma gangrenosum. Clin Exp Dermatol 36: 889-895.","journal-title":"Clin Exp Dermatol"},{"key":"ref-1542000","doi-asserted-by":"crossref","first-page":"2703","DOI":"10.1182\/blood-2013-07-516948","article-title":"F-BAR protein PSTPIP1 controls extracellular matrix degradation and filopodia formation in macrophages","volume":"123","author":"Starnes TW","year":"2014","unstructured":"Starnes TW, Bennin DA, Bing X, et al. (2014): F-BAR protein PSTPIP1 controls extracellular matrix degradation and filopodia formation in macrophages. Blood 123: 2703-2714.","journal-title":"Blood"},{"key":"ref-1542001","doi-asserted-by":"crossref","first-page":"1337","DOI":"10.1016\/j.jaci.2015.04.016","article-title":"Single amino acid charge switch defines clinically distinct proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)-associated inflammatory diseases","volume":"136","author":"Holzinger D","year":"2015","unstructured":"Holzinger D, Fassl SK, de Jager W, et al. (2015): Single amino acid charge switch defines clinically distinct proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)-associated inflammatory diseases. J Allergy Clin Immunol 136: 1337-1345.","journal-title":"J Allergy Clin Immunol"},{"key":"ref-1542002","article-title":"The registry of Hereditary Autoinflammatory Disorders Mutations \u2013 Infevers","unstructured":"The registry of Hereditary Autoinflammatory Disorders Mutations \u2013 Infevers. https:\/\/infevers.umai-montpellier.fr\/web\/"},{"key":"ref-1542003","doi-asserted-by":"crossref","first-page":"A125","DOI":"10.1186\/1546-0096-11-S1-A125","article-title":"P02-018\u2013PSTPIP1 gene mutations in periodic fever patients","volume":"11","author":"Takabe K","year":"2013","unstructured":"Takabe K, Adachi Y, Saito H, et al. (2013): P02-018\u2013PSTPIP1 gene mutations in periodic fever patients. Pediatr Rheumatol 11: A125.","journal-title":"Pediatr Rheumatol"},{"key":"ref-1542004","doi-asserted-by":"crossref","first-page":"519","DOI":"10.2174\/138920210793175921","article-title":"Clinical, molecular, and genetic characteristics of PAPA syndrome: a review","volume":"11","author":"Smith EJ","year":"2010","unstructured":"Smith EJ, Allantaz F, Bennett L, et al. (2010): Clinical, molecular, and genetic characteristics of PAPA syndrome: a review. Curr Genomics 11: 519-527.","journal-title":"Curr Genomics"},{"key":"ref-1542005","doi-asserted-by":"crossref","first-page":"13501","DOI":"10.1073\/pnas.2135380100","article-title":"Pyrin binds the PSTPIP1\/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway","volume":"100","author":"Shoham NG","year":"2003","unstructured":"Shoham NG, Centola M, Mansfield E, et al. (2003): Pyrin binds the PSTPIP1\/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway. Proc Natl Acad Sci U S A 100: 13501-13506.","journal-title":"Proc Natl Acad Sci U S A"},{"key":"ref-1542006","doi-asserted-by":"crossref","first-page":"762","DOI":"10.1001\/jamadermatol.2013.2907","article-title":"Pyogenic arthritis, pyoderma gangrenosum, acne, and hidradenitis suppurativa (PAPASH): a new autoinflammatory syndrome associated with a novel mutation of the PSTPIP1 gene","volume":"149","author":"Marzano AV","year":"2003","unstructured":"Marzano AV, Trevisan V, Gattorno M, et al. (2003): Pyogenic arthritis, pyoderma gangrenosum, acne, and hidradenitis suppurativa (PAPASH): a new autoinflammatory syndrome associated with a novel mutation of the PSTPIP1 gene. JAMA Dermatol 149: 762-764.","journal-title":"JAMA Dermatol"},{"key":"ref-1542007","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1007\/s00105-018-4312-5","article-title":"PAPA syndrome with Crohn\u2019s disease and primary sclerosing cholangitis\/autoimmune hepatitis overlap syndrome","volume":"70","author":"Sch\u00e4ffler H","year":"2019","unstructured":"Sch\u00e4ffler H, Blattmann T, Findeisen A, et al. (2019): PAPA syndrome with Crohn\u2019s disease and primary sclerosing cholangitis\/autoimmune hepatitis overlap syndrome. Hautarzt 70: 116-122.","journal-title":"Hautarzt"},{"key":"ref-1542008","doi-asserted-by":"crossref","first-page":"e187","DOI":"10.1097\/MD.0000000000000187","article-title":"Association of pyoderma gangrenosum, acne, and suppurative hidradenitis (PASH) shares genetic and cytokine profiles with other autoinflammatory disease","volume":"93","author":"Marzano AV","year":"2014","unstructured":"Marzano AV, Ceccherini I, Gattorno M, et al. (2014): Association of pyoderma gangrenosum, acne, and suppurative hidradenitis (PASH) shares genetic and cytokine profiles with other autoinflammatory disease. Medicine 93: e187.","journal-title":"Medicine"},{"key":"ref-1542009","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1111\/ced.12585","article-title":"Pyoderma gangrenosum, acne and ulcerative colitis in a patient with a novel mutation in the PSTPIP1 gene","volume":"40","author":"Zeeli T","year":"2015","unstructured":"Zeeli T, Padalon-Brauch G, Ellenbogen E, et al. (2015): Pyoderma gangrenosum, acne and ulcerative colitis in a patient with a novel mutation in the PSTPIP1 gene. Clin Exp Dermatol 40: 367-372.","journal-title":"Clin Exp Dermatol"},{"key":"ref-1542010","first-page":"113","article-title":"Haematological involvement associated with a mild autoinflammatory phenotype, in two patients carrying the E250K mutation of PSTPIP1","volume":"108","author":"Belelli E","year":"2017","unstructured":"Belelli E, Passarelli C, Pardeo M, et al. (2017): Haematological involvement associated with a mild autoinflammatory phenotype, in two patients carrying the E250K mutation of PSTPIP1. Clin Exp Rheumatol 108: 113-115.","journal-title":"Clin Exp Rheumatol"},{"key":"ref-1542011","doi-asserted-by":"crossref","first-page":"2022","DOI":"10.1002\/art.34332","article-title":"Genotype, phenotype, and clinical course in five patients with PAPA syndrome (pyogenic sterile arthritis, pyoderma gangrenosum, and acne)","volume":"64","author":"Demidowich AP","year":"2012","unstructured":"Demidowich AP, Freeman AF, Kuhns DB, et al. (2012): Genotype, phenotype, and clinical course in five patients with PAPA syndrome (pyogenic sterile arthritis, pyoderma gangrenosum, and acne). Arthritis Rheum 64: 2022-2027.","journal-title":"Arthritis Rheum"},{"key":"ref-1542012","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1111\/bjd.14383","article-title":"PSTPIP1 gene mutation in a pyoderma gangrenosum, acne and suppurative hidradenitis (PASH) syndrome","volume":"175","author":"Calder\u00f3n-Castrat X","year":"2016","unstructured":"Calder\u00f3n-Castrat X, Bancalari-D\u00edaz D, Rom\u00e1n-Curto C, et al. (2016): PSTPIP1 gene mutation in a pyoderma gangrenosum, acne and suppurative hidradenitis (PASH) syndrome. Br J Dermatol 175: 194-198.","journal-title":"Br J Dermatol"},{"key":"ref-1542013","doi-asserted-by":"crossref","first-page":"832","DOI":"10.1007\/s10875-019-00685-6","article-title":"Successful treatment of PAPA syndrome with dual adalimumab and tacrolimus therapy","volume":"39","author":"Sood AK","year":"2019","unstructured":"Sood AK, McShane DB, Googe PB, Wu EY (2019): Successful treatment of PAPA syndrome with dual adalimumab and tacrolimus therapy. 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