Table 3.
Cases of pediatric patients with HA20 reported in the literature.
| Patients | Sex | Age (y) | TNFAIP3 Amino acid alteration | Recurrent fever | Recurrent oral ulcers | Recurrent genital ulcers | Rash | Arthritis | GI ulcers | Others | Treatment |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 (2) | M | 9 | p. Arg271* | Y | Y | Y | N | N | Y | Pericardial effusion | Colchicine |
| 2 (2) | M | 8 | p. Gln338* | N | N | N | Y | N | Y | Pulmonary embolism, small vessel CNS vasculitis, inflammatory fibroepithelial polyp on the arytenoid | Without elaborating |
| 3 (3) | F | 14 | p. Val489Alafs*7 | N | N | N | N | N | Y | Insulin-dependent diabetes, cytopenias, hepatitis, enteropathy, interstitial lung disease | Prednisolone, sirolimus, tacrolimus, infliximab or rituximab, hematopoietic stem cell transplantation |
| 4 (4) | M | 4 | p. His636Terfs*1 | Y | Y | N | Y | N | N | — | Tocilizumab |
| 5 (5) | M | 6 | p. Glu332* | Y | Y | N | Y | N | N | Vomit | Colchicine |
| 6 (6) | F | 8 | p. Lys91* | N | N | N | N | Y | N | — | — |
| 7 (7) | F | 14 | p. Gln187* | Y | N | N | N | N | N | Hypothyroidism, hepatic fibrosis | Etanercept, hydroxychloroquine, prednisolone, mycophenolate mofetil |
| 8 (7) | M | 5.1 | p. Gln187* | Y | N | N | N | Y | Y | — | Etanercept, etiasa, methotrexate |
| 9 (7) | F | 9 | p. Arg 87* | Y | Y | N | N | Y | N | — | Etanercept, prednisolone |
| 10 (8) | M | 7 | p. Cys478* | Y | Y | Y | N | N | N | Pharyngalgia lymphadenopathy | Prednisolone, colchicine |
| 11 (9) | F | 4.6 | p. Lys91* | N | N | N | N | Y | N | Autoimmune thyroid disorder, growth delay, cow's milk allergy | Thyroid replacement therapy, golimumab, azathioprine |
| 12 (10) | M | 9 | Deletion of exons 2–3 | Y | Y | Y | N | N | Y | − | Adalimumab, methotrexate |
| 13 (11) | F | 5 | p.N98Tfs*25 | N | Y | N | N | Y | N | − | Hydroxychloroquine, mycophenolate mofetil, IL-1 blocking therapy, azathioprine |
| 14 (11) | M | 2 | p. R271X | N | Y | Y | N | N | N | — | Without elaborating |
| 15 (12) | M | 13 | p. Met476Ile | Y | Y | N | N | Y | Y | Epstein–Barr virus infection, lymphadenopathy | Acyclovir, prednisolone |
F, female; M, male; Y, yes; N, no; GI, gastrointestinal; age, age at diagnosis.