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. 2023 Sep 24;14(10):1858. doi: 10.3390/genes14101858

Table 2.

Genetic tests performed for diagnostic purposes in the total cohort and in those selected patients with the diagnoses listed in the second column of the table.

Tests Diagnoses All Patients
[% Patients]
Selected Patients [% Patients]
Frequent genes
HLA-B testing SpA/Behçet’s 51.4 92.8
  • -

    HLA-B27

SpA 46.7 93.8
  • -

    HLA-B51

Behçet’s 2.9 80.0
Rare mutations
MEVF FMF 0.4 100
NLRP3 CAPS, FCAS, MWS, NOMID, CINCA syndrome <0.1 100
NLRP12 FCAS2 <0.1 100
TNFRS1A TRAPS 0.1 100
CARD14 CAMPS <0.1 100
Genetic tests 52.6% 92.9%

CAMPS, CARD14 mediated psoriasis; CAPS, cryopyrin associated periodic syndrome; CARD14, caspase recruitment domain family member 14 gene; CINCA syndrome, chronic infantile neurologic cutaneous articular syndrome; FCAS, familial cold autoinflammatory syndrome; FMF, familial Mediterranean fever; HLA-B, major histocompatibility complex, class I, B; MEVF, gene for familial Mediterranean fever; MWS, Muckle–Wells’ syndrome; NLRP3, Nod-like receptor family pyrin domain containing 3; NOMID, neonatal onset multisystemic inflammatory disease; NLRP12, nucleotide-binding oligomerization domain, leucine-rich repeat-containing protein 12; SpA, spondyloarthritis; TNFRS1A, tumor necrosis factor receptor superfamily member 1A; TRAPS, tumor necrosis factor receptor-associated periodic syndrome.