Table 1 Characteristics of patients with TNFAIP3 missense variants

Sex

Male

Female

Female

Age of onset

11 m

12 y

12 y

Age of analysis

4 y

20 y

24 y

TNFAIP3 variant

c.574G>A

c.929T>C

c.2126A>G

p.Glu192Lys

p.Ile310Thr

p.Gln709Arg

Clinical symptom

Recurrent fever, pharyngitis, coxitis

Recurrent fever, abdominal pain

Fever, facial erythema, proteinuria

Autoantibody

No

No

ANA, anti-dsDNA, anti-Sm, anti-CL, anti-GAD antibody

The diagnosis before the identification of TNFAIP3 variants

PFAPA

Colchicine-resistant FMF (infliximab effective), erosion of the ileum

Type 1 diabetes, SLE

With the same variant in the family

Father (recurrent stomatitis, hemorrhoids, folliculitis)

Mother (asymptomatic)

Father (asymptomatic)