Description

NLRP1-Associated Autoinflammation with Arthritis and Dyskeratosis (NAIAD) is a rare autoinflammatory disorder. NLRP1 is involved in the regulation of inflammation directed towards pathogens by "inflammasomes".


Chromosome location: 17p13.2

Gene: NLRP1 (nucleotide-binding oligomerisation domain-like receptor family pyrin domain containing 1)

 

Clinical features:

(1) arthritis

(2) dyskeratosis (phrynoderma, filiform hyperkeratosis, palmoplantar hyperkeratosis)

(3) recurrent fever

(4) recurrent infection

(5) vitamin A deficiency

 

Laboratory findings:

(1) elevated C-reactive protain

(2) positive ANA titer

(3) elevated serum caspase-1 and interleukin 18


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