Table 3

Clinical data of PsA patients with monoallelic mutations in genes associated with AD-IEI/AID

Patient IDAgeSexIEI/AID geneAge at first diagnosis of a psoriatic manifestationFirst psoriatic manifestationPsoriatic and other manifestations of immune dysregulationCurrent PsA therapy
370FNOD244PsoriasisPlaque psoriasis, asymmetrical oligoarthritis, Crohn’s diseaseSecukinumab, MTX
667FNOD257PsoriasisPlaque psoriasis, polyarthritisMTX
1149MAP1S319PsoriasisPlaque psoriasis and pustular psoriasis, polyarthritis, enthesitisIxekizumab
1223FTNFAIP323PsoriasisPlaque psoriasis, bilateral sacroiliitis, recurrent oral aphthosisNSAID, prednisolone
1362FAP1S324PsoriasisPustular psoriasis, sacroiliitis, polyarthritis, vitiligoCertolizumab pegol, MTX
2133FCOPA18ArthritisOligoarthritisMTX, SSZ, NSAID
2220FTNFRSF1A14ArthritisOligoarthritisCertolizumab
2752FPLCG222EnthesitisPlaque psoriasis, enthesitis, oligoarthritisSecukinumab
3955MAP1S333PsoriasisPlaque psoriasis, polyarthritisMTX, NSAID
5729FNFKB13PsoriasisPlaque psoriasis, treatment refractory oligoarthritisMTX, NSAID
6461FCOPA & PLCG241PsoriasisPlaque psoriasis, oligoarthritis, Crohn’s with fistulas, hypogammaglobulinemiaInfliximab
6534MNLRP1229PsoriasisPlaque psoriasis, nail psoriasis, polyarthritisAdalimumab, MTX
7063MNLRP1249ArthritisFather with psoriasis and PsA, oligoarthritis, bilateral sacroiliitisEtanercept, MTX
8050MCARD14 & TNFAIP346PsoriasisPustular psoriasis, alopecia areata, enthesitis, oligoarthritisTofacitinib
8153MNLRP1254ArthritisPlaque psoriasis, polyarthritisMTX
8636FAP1S320PsoriasisPustular psoriasis, polyarthritisMTX, prednisolone
9161FNOD2, IL1RN51PsoriasisPlaque psoriasis, polyarthritis, Crohn’s disease, coeliac disease, livedo reticularisTofacitinib
9839FPLCG2, DDX5837ArthritisPlaque psoriasis, polyarthritis, spondylitisMTX
11555FAP1S346PsoriasisPustular psoriasis, oligoarthritis, Grave’s diseaseNSAID, prednisolone
11653FPLCG250ArthritisOligoarthritis, hypothyroidism, polyneuropathy, atopic dermatitis, hypogammaglobulinemiaLFN, prednisolone
  • F, female; LFN, leflunomide; M, male; MTX, methotrexate; NSAID, non-steroidal anti-inflammatory drug; patient ID, patient identification number; PsA, psoriatic arthritis; SSZ, sulfasalazine.