Table 1

Clinical information, NIRCA results, and sequencing findings in 26 patients who fulfilled the diagnostic criteria of familial Mediterranean fever

NIRCA digestion
Patient NoAge*/sexAge of onset (years)FMF criteria†OriginFamily historyExon 10Exon 2Exons 3–9Sequencing (amino acid alteration)
*Age in years corresponding to the age when genetic screening was done.
†Diagnostic criteria according to Livneh et al1: M, major criteria; m, minor criteria.
‡ § ¶ ** ††Patients with the same symbol are relatives.
‡‡The parents of these patients were refugees from Asia Minor.
§§Overall, six asymptomatic relatives of these patients were studied.
FMF, familial Mediterranean fever; Neg, negative; NIRCA, non-isotopic RNase cleavage assay; NP, not performed; Pos, positive.
114 ♀31M, 2mGreek‡‡Pos§§PosNegNegM680I/V726A
217 ♂‡92M, 1mGreek‡‡NegPosNegNPM694V/M694V
315 ♀‡42M, 1mGreek‡‡NegPosNegNegM694V/M694V
432 ♀102M, 2mGreek‡‡NegPosPosPosM694V/0, D102D/D102D, G138G/G138G, A165A/A165A, G219G/0, R314R/0, E474E/0, D510D/0
540 ♀§82M, 2mGreek‡‡NegPosNegNPM694V/M694I
638 ♀§122M, 2mGreek‡‡NegPosNegNegM694V/M694I
731 ♀92M, 1mGreekNeg§§PosNegNegM680I/M694V
87 ♂61M, 1mGreekNegPosNegNegV726A/0
928 ♂142MGreekNegPosNegNegM694V/0
1027 ♂241M, 2mGreek‡‡NegNegNegNegAbsence of alterations
1145 ♂52M, 1mJewishNeg§§PosNegNegM694V/M694V
1212 ♀¶42M, 1mJewishPosPosNegNegM694V/M694V
1316 ♂¶92M, 1mJewishPosPosNegNPM694V/R761H
1417 ♀32M, 1mArmenianNegNegPosPosR202Q/R202Q, D102D/D102D, G138G/G138G, A165A/A165A R314R/0, E474E/0, Q476Q/0, D510D/0
155 ♀42M, 1mGreekNegNegPosNegR202Q/R202Q, D102D/D102D, G138G/G138G, A165A/A165A
1626 ♀122M, 1mGreekNegNegPosNegR202Q/R202Q, D102D/D102D
1718 ♀81M, 2mGreekNegNegPosNegE148Q/E148Q
184 ♂**31M, 2mGreek‡‡PosPosPosNPM680I/0, E167D/0, D102D/0
1928 ♀**122MGreek‡‡NegPosPosNegM680I/0, E167D/0, D102D/0, R202Q/0
2022 ♀††42M, 1mGreek‡‡PosPosNegNPM680I/M694V
2118 ♀††81M, 2mGreek‡‡PosPosNegNPM680I/M694V
2255 ♂††123mGreek‡‡NegPosNegNegM694V/0
2324 ♂102M, 1mGreek‡‡NegPosNegNegM680I/V726A
2417 ♀122MGreekNegPosNegNegM680I/M694V
2520 ♂142M, 1mGreekNegNegPosNegR202Q/R202Q, D102D/D102D, G138G/G138G, A165A/A165A
2619 ♂122MGreekNegPosPosNegM694V/0, R202Q/0