<?xml version='1.0' encoding='UTF-8'?><xml><records><record><source-app name="HighWire" version="7.x">Drupal-HighWire</source-app><ref-type name="Journal Article">17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Chavan, Pallavi Pimpale</style></author><author><style face="normal" font="default" size="100%">Aksentijevich, Ivona</style></author><author><style face="normal" font="default" size="100%">Daftary, Aditya</style></author><author><style face="normal" font="default" size="100%">Panwala, Hiren</style></author><author><style face="normal" font="default" size="100%">Khemani, Chetna</style></author><author><style face="normal" font="default" size="100%">Khan, Archana</style></author><author><style face="normal" font="default" size="100%">Khubchandani, Raju</style></author></authors><secondary-authors></secondary-authors></contributors><titles><title><style face="normal" font="default" size="100%">Majeed Syndrome: Five Cases With Novel Mutations From Unrelated Families in India With a Review of Literature</style></title><secondary-title><style face="normal" font="default" size="100%">The Journal of Rheumatology</style></secondary-title></titles><dates><year><style  face="normal" font="default" size="100%">2021</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2021-12-01 00:00:00</style></date></pub-dates></dates><pages><style  face="normal" font="default" size="100%">1850-1855</style></pages><doi><style  face="normal" font="default" size="100%">10.3899/jrheum.201663</style></doi><volume><style face="normal" font="default" size="100%">48</style></volume><issue><style face="normal" font="default" size="100%">12</style></issue><abstract><style  face="normal" font="default" size="100%">Objective Majeed syndrome (MJS) is an autosomal recessive, systemic autoinflammatory disease (SAID) caused by biallelic loss-of-function variants in the LPIN2 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 LPIN2 and other genes associated with SAIDs.Methods 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 LPIN2. We reviewed the literature for all published studies of mutation-positive MJS patients and have summarized their clinical features and disease-causing variants.Results 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 LPIN2 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.Conclusion 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.</style></abstract></record></records></xml>