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2025

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Year Number of Results
2007 2
2008 1
2009 2
2010 1
2011 1
2012 1
2013 7
2014 3
2015 1
2017 3
2018 3
2019 1
2021 2
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Page 1
Majeed Syndrome: A Review of the Clinical, Genetic and Immunologic Features.
Ferguson PJ, El-Shanti H. Ferguson PJ, et al. Biomolecules. 2021 Feb 28;11(3):367. doi: 10.3390/biom11030367. Biomolecules. 2021. PMID: 33670882 Free PMC article. Review.
There are only 24 individuals from 10 families with genetically confirmed Majeed syndrome reported in the literature. The early descriptions of Majeed syndrome reported severely affected children with recurrent fevers, severe multifocal osteomyelitis, …
There are only 24 individuals from 10 families with genetically confirmed Majeed syndrome reported in the literature. The earl …
LPIN2 -related Majeed syndrome: report of two Indian patients with novel variants in LPIN2 and review of literature.
Badiger VA, Balan S, Madan S, Gogineni KS, Shah H, Narayanan DL. Badiger VA, et al. Clin Dysmorphol. 2024 Jan 1;33(1):27-30. doi: 10.1097/MCD.0000000000000476. Epub 2023 Oct 12. Clin Dysmorphol. 2024. PMID: 37865862 Review.
LPIN2 -related Majeed syndrome (MIM# 609628) is a rare non-inflammasome autoinflammatory disease, caused due to biallelic variants in LPIN2 (MIM* 605519). ...Chronic recurrent osteomyelitis involving the lower extremities was the most common clinical presentation. L …
LPIN2 -related Majeed syndrome (MIM# 609628) is a rare non-inflammasome autoinflammatory disease, caused due to biallelic vari …
Autoinflammatory bone diseases.
Stern SM, Ferguson PJ. Stern SM, et al. Rheum Dis Clin North Am. 2013 Nov;39(4):735-49. doi: 10.1016/j.rdc.2013.05.002. Epub 2013 Aug 17. Rheum Dis Clin North Am. 2013. PMID: 24182852 Free PMC article. Review.
The most common autoinflammatory bone diseases in childhood include chronic nonbacterial osteomyelitis (CNO), synovitis, acne, pustulosis, hyperostosis, osteitis syndrome, Majeed syndrome, deficiency of interleukin-1 receptor antagonist, and cherubism. In this artic …
The most common autoinflammatory bone diseases in childhood include chronic nonbacterial osteomyelitis (CNO), synovitis, acne, pustulosis, h …
Autoinflammatory bone disorders.
Morbach H, Hedrich CM, Beer M, Girschick HJ. Morbach H, et al. Clin Immunol. 2013 Jun;147(3):185-96. doi: 10.1016/j.clim.2012.12.012. Epub 2013 Jan 5. Clin Immunol. 2013. PMID: 23369460 Review.
Recently, novel insights in the pathophysiology of sterile bone inflammation have been gathered by analyzing patients with rare, monogenic inflammatory diseases. In this overview CNO and Majeed syndrome, cherubism, hypophosphatasia and primary hypertrophic osteoarth …
Recently, novel insights in the pathophysiology of sterile bone inflammation have been gathered by analyzing patients with rare, monogenic i …
Majeed Syndrome: Five Cases With Novel Mutations From Unrelated Families in India With a Review of Literature.
Chavan PP, Aksentijevich I, Daftary A, Panwala H, Khemani C, Khan A, Khubchandani R. Chavan PP, et al. J Rheumatol. 2021 Dec;48(12):1850-1855. doi: 10.3899/jrheum.201663. Epub 2021 May 15. J Rheumatol. 2021. PMID: 33993107 Review.
OBJECTIVE: Majeed syndrome (MJS) is an autosomal recessive, systemic autoinflammatory disease (SAID) caused by biallelic loss-of-function variants in the LPIN2 gene. ...
OBJECTIVE: Majeed syndrome (MJS) is an autosomal recessive, systemic autoinflammatory disease (SAID) caused by biallelic loss- …
Autoinflammatory bone disorders.
Ferguson PJ, El-Shanti HI. Ferguson PJ, et al. Curr Opin Rheumatol. 2007 Sep;19(5):492-8. doi: 10.1097/BOR.0b013e32825f5492. Curr Opin Rheumatol. 2007. PMID: 17762617 Review.
RECENT FINDINGS: Chronic noninfectious inflammation of the bone is a clinical feature of both chronic recurrent multifocal osteomyelitis and (to a lesser degree) cherubism. The genes responsible for Majeed syndrome (LPIN2), murine chronic multifocal osteomyelitis (p …
RECENT FINDINGS: Chronic noninfectious inflammation of the bone is a clinical feature of both chronic recurrent multifocal osteomyelitis and …
Autoinflammatory diseases in pediatrics.
Hausmann JS, Dedeoglu F. Hausmann JS, et al. Dermatol Clin. 2013 Jul;31(3):481-94. doi: 10.1016/j.det.2013.04.003. Epub 2013 Jun 2. Dermatol Clin. 2013. PMID: 23827250 Review.
It discusses pharyngitis, and cervical adenitis and the monogenic autoinflammatory diseases that cause recurrent fevers including familial Mediterranean fever, hyper-immunoglobulin (Ig) D and periodic fever syndrome, tumor necrosis factor receptor-associated periodic syndrome, cr …
It discusses pharyngitis, and cervical adenitis and the monogenic autoinflammatory diseases that cause recurrent fevers including familial M …
Vasculitis in the autoinflammatory diseases.
Peleg H, Ben-Chetrit E. Peleg H, et al. Curr Opin Rheumatol. 2017 Jan;29(1):4-11. doi: 10.1097/BOR.0000000000000347. Curr Opin Rheumatol. 2017. PMID: 27755121 Review.
In most AID where bones and skin are mainly involved (CRMO, Majeed syndrome, Cherubism and DITRA) - vasculitis has not been described at all. In AID small vessel vasculitis affects mainly the skin with no involvement of internal organs. ...
In most AID where bones and skin are mainly involved (CRMO, Majeed syndrome, Cherubism and DITRA) - vasculitis has not been de …
Bone involvement in monogenic autoinflammatory syndromes.
Bader-Meunier B, Van Nieuwenhove E, Breton S, Wouters C. Bader-Meunier B, et al. Rheumatology (Oxford). 2018 Apr 1;57(4):606-618. doi: 10.1093/rheumatology/kex306. Rheumatology (Oxford). 2018. PMID: 28968889 Review.
Until recently the most common autoinflammatory diseases (AIDs) associated with bone disease in childhood included a few genetically complex (chronic non-bacterial osteomyelitis, synovitis, acne, pustulosis, hyperostosis and osteitis syndrome) and monogenic (Majeed synd
Until recently the most common autoinflammatory diseases (AIDs) associated with bone disease in childhood included a few genetically complex …
Pediatric hereditary autoinflammatory syndromes.
Jesus AA, Oliveira JB, Hilário MO, Terreri MT, Fujihira E, Watase M, Carneiro-Sampaio M, Silva CA. Jesus AA, et al. J Pediatr (Rio J). 2010 Sep-Oct;86(5):353-66. doi: 10.2223/JPED.2015. J Pediatr (Rio J). 2010. PMID: 20938587 Review. English, Portuguese.
This review describes the epidemiological, clinical and laboratory features, prognosis, and treatment of the main autoinflammatory syndromes, namely: familial Mediterranean fever; TNF receptor associated periodic syndrome; the cryopyrinopathies; mevalonate kinase deficiency; pedi …
This review describes the epidemiological, clinical and laboratory features, prognosis, and treatment of the main autoinflammatory syndromes …
30 results