Table 1 Baseline characteristics of FUO patients with chromosomal abnormalities
Patient | P1 | P2 | P3 | P4 | P5 | P6 | P7 | P8 |
|---|---|---|---|---|---|---|---|---|
Fever phenotype | Periodic fever | Periodic fever | Periodic fever | Periodic fever | Periodic fever | Recurrent fever | Central fever | Central fever |
Age at fever presentation | 10Â m | 36Â m | 8Â m | 10Â m | 24Â m | 2Â m | 9Â m | 6Â m |
Age at diagnosis | 56Â m | 67Â m | 21Â m | 44Â m | 60Â m | 45Â m | 22Â m | 14Â m |
Gender | F | F | M | F | F | F | M | M |
Fever interval | 1 m | 1 m | 1 m | 0.5–1 m | 2 m | irregular | persistent | persistent |
Facial abnormality | – | – | – | – | – | frontal bossing |  +  |  +  |
Congenital anomalies | VSD/ASD | – | – | flexion deformity of finger | – | PDA |  +  | congenital aural atresia |
Growth retardation | – | – |  +  | – | – |  +  |  +  |  +  |
Developmental delay |  +  |  +  |  +  | – | – |  +  |  +  |  +  |
Pharyngitis/ amygdalitis |  +  |  +  |  +  |  +  | – | – | – | – |
Lymphadenectasis/ hepatosplenomegaly | – | – |  +  |  +  |  +  |  +  | – | – |
Skin/mucous | – | – | – | Oral aphthous perianal abscess | Oral aphthous | rash | – | – |
Gastrointestinal | Vomiting | – | – | Diarrhea | Abdominal pain | – | – | – |
Arthritis | – | – | – | – | – |  +  | – | – |
Blood | – | – | – | – | anemia, thrombocytopenia | HLH | – | – |
Central nervous system | Tourette syndrome | – | – | Seizure | – | Seizures | Seizures | Hypotonia; abnormal EEG |
Abnormal chromosome and gene | 7q11.23 dup | 3p26.3–p26.1 del;17q12 dup | 22q11.21 del | Trisomy 8 | Trisomy 8; PTPN11: c.1508G > C | 6q23.3–q24.1 del | 13q32.3–q34 dup;18q22.3–q23 del | 18q22.3–q23 del |
RefSeq genes included in abnormal chromosome | NCF1, LAT2, PTPN12, MERM1 | TRNT1, CCL5, CCL2, CCL16, etc | SCARF2,etc | IKBKB, TNFRSF11B, etc | IKBKB, TNFRSF11B, etc | TNFAIP3, IFNGR1, etc | TNFSF13B, GALR1, TSHZ1, etc | GALR1, TSHZ1, etc |
Treatment | Antibiotic, colchicine, bacterial lysates | Antibiotic, temporary corticosteroid, bacterial lysates | Antibiotic, single–dose corticosteroids during attacks | Antibiotic, temporary corticosteroid | Antibiotic, mesalazine, bacterial lysates | Antibiotic, long–term corticosteroids, NSAIDs | Antibiotic, thymopolypeptides, antiepileptic | Antibiotic, rehabilitation training |