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Article

A splice site mutation confirms the role of LPIN2 in Majeed syndrome.

Arthritis and rheumatism - 1 Mar 2007

Al-Mosawi Zakiya S, Al-Saad Khulood K, Ijadi-Maghsoodi Roya, El-Shanti Hatem I, Ferguson Polly J

Abstract excerpt

Majeed syndrome is an autoinflammatory disorder consisting of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and neutrophilic dermatosis. To date, 2 unrelated families with Majeed syndrome have been reported. Mutations in LPIN2 have been found in both families. H...

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Share to Anemia, Dyserythropoietic, Congenital
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Source

Identifiers

PMID: 17330256
DOI: 10.1002/art.22431

Genes

LPIN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17330256-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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A splice site mutation confirms the role of LPIN2 in Majeed syndrome.PMID 17330256Read ↗

Compound heterozygous LPIN2 pathogenic variants in a patient with Majeed syndrome with recurrent fever and severe neutropenia: case report.Semantic proximity Read ↗

Compound heterozygous LPIN2 pathogenic variants in a patient with Majeed syndrome with recurrent fever and severe neutropenia: case reportSemantic proximity Read ↗

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

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

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 ↗

Majeed syndrome: description of a novel mutation and therapeutic response to bisphosphonates and IL-1 blockade with anakinraSemantic proximity Read ↗

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

Novel mutation of the LPIN2 gene in Turkish brothers with Majeed syndrome. Response to IL-1 inhibitionSemantic proximity Read ↗

A novel mutation of IL1RN in the deficiency of interleukin-1 receptor antagonist syndrome: description of two unrelated cases from Brazil.Semantic proximity Read ↗

Type I interferon-mediated autoinflammation in two unrelated patients due to a proximal intronic splice site variant in DNASE2Semantic proximity Read ↗

Update on the genetics of nonbacterial osteomyelitis in humans.Semantic proximity Read ↗

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