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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Specialty: Immunology/Rheumatology, Dermatology
