{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T07:39:33Z","timestamp":1780472373435,"version":"3.54.1"},"reference-count":25,"publisher":"The Journal of Rheumatology","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Rheumatol"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:sec><jats:title>Objective<\/jats:title><jats:p>Majeed syndrome (MJS) is an autosomal recessive, systemic autoinflammatory disease (SAID) caused by biallelic loss-of-function variants in the<jats:italic>LPIN2<\/jats:italic>gene. It is characterized by early-onset chronic recurrent multifocal osteomyelitis (CRMO), dyserythropoietic anemia, and neutrophilic dermatosis. We analyzed a cohort of uncharacterized Indian patients for pathogenic variants in<jats:italic>LPIN2<\/jats:italic>and other genes associated with SAIDs.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We performed whole-exome sequencing (WES) for 1 patient and next-generation sequencing (NGS) targeted gene panel for SAIDs in 3 patients. One patient was a referral from neurology after clinical exome sequencing identified a novel variant in<jats:italic>LPIN2<\/jats:italic>. We reviewed the literature for all published studies of mutation-positive MJS patients and have summarized their clinical features and disease-causing variants.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We describe the largest series of patients with MJS outside of the Middle East. All 5 patients are homozygous for novel, possibly pathogenic variants in the<jats:italic>LPIN2<\/jats:italic>gene. Two of these variants are missense substitutions, and 3 are predicted to alter transcript splicing and create a truncated protein. In addition to the classical features of CRMO and anemia, patients exhibited previously unreported features, including abdominal pain, recurrent diarrhea\/ear discharge, and erythema nodosum.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Patients with MJS may present initially to different specialists, and thus it is important to create awareness in the medical community. In India, consanguinity is a common sociocultural factor in many ethnic communities and an abbreviated NGS gene panel for autoinflammatory diseases should include MJS. The unavailability of interleukin 1 inhibitors in some countries poses a treatment challenge.<\/jats:p><\/jats:sec>","DOI":"10.3899\/jrheum.201663","type":"journal-article","created":{"date-parts":[[2021,5,15]],"date-time":"2021-05-15T12:20:16Z","timestamp":1621081216000},"page":"1850-1855","source":"Crossref","is-referenced-by-count":10,"title":["Majeed Syndrome: Five Cases With Novel Mutations From Unrelated Families in India With a Review of Literature"],"prefix":"10.3899","volume":"48","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5124-6559","authenticated-orcid":false,"given":"Pallavi 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