The diseases described in this scope include FMF, tumor necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS), mevalonate kinase deficiency/hyperimmunoglobulin D syndrome (MKD-HIDS), NLRP12- related syndrome (NLRP12AD), Blau syndrome, pyogenic arthritis, pyoderma gangrenosum and acne syndrome (PAPAs), early-onset sarcoidosis (EOS), Majeed syndrome (MS), interleukin-1 receptor antagonist deficiency (DIRA), cryopyrin associated periodic syndromes (CAPS), IL-36 receptor antagonist deficiency (DITRA), CARD14-mediated pustular psoriasis (CAMPS) and chronic atypical neutrophilic dermatosis, lypodistrophy, and elevated temperature (CANDLE).
Blau syndrome is a rare autosomal dominant, autoin-flammatory disease that predominantly occurs in Caucasians and is characterized by granulomatous recurrent uveitis, dermatitis, and symmetrical arthritis.
Next-generation sequencing was performed for the remaining two patients; an NOD2 mutation was observed in one of these patients and Blau syndrome was diagnosed instead of CAPS in this patient (25).
Blau syndrome associated with a CARD15/NOD2 mutation.
Among these diseases, two rare non-caseating granulomatosis, Blau syndrome and early-onset sarcoidosis, caused by sequence variants in the caspase recruitment domain-containing protein 15/NOD2 (CARD15/NOD2) gene, have been included in the group of nuclear factor-[kappa]B (NF-[kappa]B) activation disorders or autoinflammatory granulomatous diseases .
Caveats and truths in genetic, clinical, autoimmune and autoinflammatory issues in Blau syndrome and early onset sarcoidosis.