Table 3 FUO related chromosomal abnormalities reported in the literature

6q23.2-q24.3 del

Inflammatory fever

recurrent fever, several FUO during first year

 < 1y

M

Neutrophilic dermatosis, oral aphthae, diarrhoea and perianal ulcers

Increased CRP, ESR

Methylprednisolone, etanercept

–

 + 

 + 

inverted CD4/CD8 ratio, ANA: 1:160 + 

[18]

Trisomy 8

Inflammatory fever

recurrent fever, high fever

69y

M

Sweet's sydrome, MDS(RA), convulsion

Increased neutrophils, CRP, IL-6, G-CSF

NSAIDS, prednisone

–

NA

NA

–

[19]

Inflammatory fever

periodic fever, for 2 years

1.5y

F

Chronic diarrhea, skin lesion, hydropericardium, MDS

Increased SolIL2R

Dexamethasone, colchicine

–

NA

NA

PTPN11 mutation

[20]

Inflammatory fever

periodic fever, high fever

53y

F

Intestinal Behcet's-like disease, MDS

–

Colchicine, Azacitidine, prednisolone

–

NA

NA

MEFV E148Q mutation

[21]

Inflammatory fever

periodic fever, for 1 year

66y

M

GIBD, macrocytic anemia

Increased WBC

Colchicine, mesalamine

–

NA

NA

–

[22]

Inflammatory fever

periodic fever, high fever

72y

M

Erythema nodosum, MDS(RA)

Increased WBC, CRP

Colchicine, prednisolone

–

NA

NA

–

[23]

Inflammatory fever

periodic fever, high fever

68y

M

Erythema nodosum, rhabdomyolysis and acute renal failure, diarrhea, MDS(RA), oral ulcer

Increased WBC, CRP

prednisolone

–

NA

NA

–

15q del (maternal)

Central fever

persistent fever, 37.8–39.0 °C

1 m

F

-

–

No response to antibiotics and antipyretic medications

Facial anomalies

–

 + 

EEG: epileptiform discharges, seizures, microcephaly, hypotonia

[24]

Central fever

persistent fever, 37.5- 39.0 °C

2 m

M

-

–

No response to antibiotics and antipyretic medications

Facial anomalies

–

 + 

EEG: epileptiform discharges, microcephaly, hypotonia, spastic tetraplegia

15q del (paternal)

Central fever

persistent fever, 38- 39.0 °C

13y

M

Hypotension, hyperpyrexia, rhabdomyolysis, acute kidney injury

–

External cooling

Hypospadias

–

NA

obesity, obstructive sleep apnoea, asthma, hypertension, fatty liver disease, diabetes

[25]

Central fever

persistent fever, 37.2–39.6 °C

15d

M

-

–

No response to antibiotics medications

Facial anomalies

–

NA

hypotonia, feeding difficulty

[26]

Central fever

persistent fever, 37.6 -39.6 °C

6 m

M

-

–

NA

Facial anomalies

–

NA

hypotonia, hypogonadia

Central fever

persistent fever, 38.5- 39.5 °C

7 m

F

-

–

NA

Facial anomalies

–

 + 

Microcephaly, hypotonia

Central fever

persistent fever, high fever

Neonatal period

F

Rhabdomyolysis, MODS

–

Fluid resuscitation

Facial anomalies

NA

NA

deep venous thrombosis, seizure, hypotonia

[27]

16p13.3 del

Inflammatory fever

recurrent fever, 2–5/year

18y

M

Abdominal pain, arthritis

Increased CRP, ESR

Colchicine

Facial anomalies

 + 

 + 

MEFV M694V mutation

[28]

18q22.3-q23 del

Central fever

long-term fever, up to 40 °C

5 m

M

Hyporexia, poor weight gain

–

No response to antibiotics and antipyretic medications

Facial anomalies, congenital aural atresia, congenital vertical talus

 + 

 + 

delayed myelination, hypotonia

[29]

18q21.32-q22.2 dup; 18q22.2-qter del

Inflammatory fever

recurrent fever, frequency > 1/month

3w

M

Rash, abdominal pain, lymphadenopathy, constipation

NA

NA

Facial anomalies, cleft palate, TOF

NA

 + 

–

[9]

19q13.42 dup

Inflammatory fever

recurrent fever associated with s-JIA, spiking fever

2y

F

s-JIA

NA

Refractory to conventional treatment, Tocilizumab

–

NA

NA

–

[30]

22q13.33 del

Undetermined

irregularly fever, 37–38 °C, approximately 1/month

23y

F

Acute and transient psychotic disorder

NA

Olanzapine, valproic acid, haloperidol, oxazepam

Facial anomalies

–

 + 

–

[31]