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

Objective: Majeed syndrome (MJS) is an autosomal recessive, systemic autoinflammatory disease (SAID) caused by biallelic loss-of-function variants in the 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 and other genes associated with SAIDs.

Blau arteritis resembling Takayasu disease with a novel NOD2 mutation.

Objective: To put forward a new concept--Blau arteritis, a form of large-vessel vasculitis phenotypically related to Takayasu disease but genetically and clinically part of an expanded phenotype of Blau syndrome.

Methods: We provide a clinical description of a new case and summarize previously published cases of arteritis associated with Blau syndrome. Genetic testing was performed by direct sequencing of exon 4 of the NOD2 gene.

CINCA Syndrome.

CINCA syndrome is a genetic disorder characterized by early onset of recurrent fever, rash, progressive articular and neurological involvement. We report a 7-year-old girl with CINCA syndrome with an infrequent manifestation of retinal vasculitis and a relative paucity of neurological signs. She had a de novo F309S mutation in exon 3 of CIAS1 gene on chromosome 1.