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Article

Majeed Syndrome: A Review of the Clinical, Genetic and Immunologic Features.

Biomolecules - 28 Feb 2021

Ferguson Polly J, El-Shanti Hatem

Abstract excerpt

Majeed syndrome is a multi-system inflammatory disorder affecting humans that presents with chronic multifocal osteomyelitis, congenital dyserythropoietic anemia, with or without a neutrophilic dermatosis. The disease is an autosomal recessive disorder caused by mutations in LPIN2, the gene encoding the phosphatidic acid phosphatase LIPIN2. It is exceedingly rare. There are only 24 individuals from 10 families...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33670882
DOI: 10.3390/biom11030367
PMCID: PMC7997317

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

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Majeed Syndrome: A Review of the Clinical, Genetic and Immunologic Features.PMID 33670882Read ↗

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

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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 ↗

Majeed syndrome: first description in a patient of central-European ancestry.Semantic proximity Read ↗

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