Table 1. Clinical characterization of patients analyzed by whole exome sequencing.
| Patient* | Age at onset (months) | m/f | Major symptoms | Other symptoms | Positive FH |
|---|---|---|---|---|---|
| A1 | 54 | f | P | Brother A2: PFAPA | |
| A2 | 60 | m | P | AbdP, D | Sister A1: PFAPA |
| B1 | 6 | f | AD | Cousin: PFAPA | |
| F1 | 12 | m | AD | AbdP, H | |
| O1 | 41 | f | APH | AbdP | |
| R1 | 26 | f | P, AD | AR | |
| PLA 6209 | 18 | f | P, AD, APH | Both parents: TE, Father: recurrent P | |
| PLA 6509 | 4 | m | P, AD | AbdP | Both parents: TE |
| PLA 5008 | 16 | m | P, AD, APH | Father: TE |
FH: family history, P: pharyngitis, AD: adenitis, APH: oral aphtosis, AbdP: abdominal pain, M: myalgia, AR: arthralgia, R: rash, H: headache, D: diarrhea, TE: tonsillectomy.
*Individuals O5, and R2 were not affected and thus were not examined. Individual B7 was not available for examination.