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Article

Majeed Syndrome: Five Cases With Novel Mutations From Unrelated Families in India With a Review of Literature.

The Journal of rheumatology - 1 Dec 2021

Chavan Pallavi Pimpale, Aksentijevich Ivona, Daftary Aditya, Panwala Hiren, Khemani Chetna, Khan Archana, Khubchandani Raju

Abstract excerpt

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...

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Identifiers

PMID: 33993107
DOI: 10.3899/jrheum.201663

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Majeed Syndrome: Five Cases With Novel Mutations From Unrelated Families in India With a Review of Literature.PMID 33993107Read ↗

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Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome).Semantic proximity Read ↗

Novel Majeed Syndrome–Causing LPIN2 Mutations Link Bone Inflammation to Inflammatory M2 Macrophages and Accelerated OsteoclastogenesisSemantic proximity Read ↗

A splice site mutation confirms the role of LPIN2 in Majeed syndrome.Semantic proximity Read ↗

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