{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T01:24:19Z","timestamp":1773278659079,"version":"3.50.1"},"reference-count":12,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2021,5,28]],"date-time":"2021-05-28T00:00:00Z","timestamp":1622160000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2021,5,28]],"date-time":"2021-05-28T00:00:00Z","timestamp":1622160000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2021,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    PSTPIP1\u2010associated myeloid\u2010related proteinemia inflammatory (PAMI) syndrome caused by mutations in\n                    <jats:italic>PSTPIP1<\/jats:italic>\n                    is a rare inflammatory disorder that can be easily misdiagnosed. It is characterized by anemia, arthritis, cutaneous inflammation, recurrent infections, growth failure, hepatosplenomegaly, lymphadenopathy, hyperzincemia\/hypercalprotectinemia, neutropenia, thrombocytopenia, and elevated inflammatory indicators. This study describes the cases of two pediatric female patients with long\u2010standing recurrent arthralgia in different parts of the extremities and severe anemia, respectively, who were misdiagnosed and treated for aseptic necrosis of the femoral head and severe autoimmune hemolytic anemia, respectively. High\u2010throughput sequencing analysis revealed a de novo heterozygous missense mutation (c.748G\u2009&gt;\u2009A, p. Glu250Lys) in exon 11 of\n                    <jats:italic>PSTPIP1<\/jats:italic>\n                    (NM_003978.5) in both patients, which supported a diagnosis of PAMI. The patients were treated with prednisone and etanercept, which improved their symptoms, but neutropenia remained unchanged. These cases highlight the importance of genetic assessment for the accurate diagnosis of PAMI and to ensure adequate and timely treatment of these patients.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.62367","type":"journal-article","created":{"date-parts":[[2021,5,28]],"date-time":"2021-05-28T04:01:21Z","timestamp":1622174481000},"page":"3074-3082","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["<scp>PAMI<\/scp>\n                    syndrome: A rare cause that can be easily misdiagnosed"],"prefix":"10.1002","volume":"185","author":[{"given":"Xue\u2010Mei","family":"Xu","sequence":"first","affiliation":[{"name":"Department of Rheumatology and Immunology, Shanghai Children's Medical Center Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hua","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Rheumatology and Immunology, Shanghai Children's Medical Center Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fei","family":"Ding","sequence":"additional","affiliation":[{"name":"Department of Rheumatology and Immunology, Shanghai Children's Medical Center Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhen","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Rheumatology and Immunology, Shanghai Children's Medical Center Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jian","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Genetics, Shanghai Children's Medical Center Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4599-7022","authenticated-orcid":false,"given":"Yan\u2010Liang","family":"Jin","sequence":"additional","affiliation":[{"name":"Department of Rheumatology and Immunology, Shanghai Children's Medical Center Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,5,28]]},"reference":[{"issue":"6","key":"e_1_2_10_2_1","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","journal-title":"Clinical and Experimental 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