Table 2.
Clinical features and genetic variants of patients with CD70 deficiency
| Age at onset, y* | Age at diagnosis, y* | Sex | Ethnicity | Consanguinity | Mutation NM_001242.5 | Bacterial infections | EBV-related symptoms | Max EBV load | Malignancy | Other symptoms | Treatment | Outcome | Center | Ref. | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P34 | 3 | 7 | M | Egyptian | + | c.C535T, p.R179* | No | LPD | NA | ns-HL | Recurrent fever | HSCT | Alive | Paris | 24 |
| P35 | 5 | 9 | F | Iranian | + | c.250delT, p.S84Pfs27* | LRTI | IM | 6 910 | ns-HL | Behcet-like disease | No | Alive | Tehran | 26 |
| P36 | 0 | 36 | M | Iranian | + | c.250delT, p.S84Pfs27* | Sinusitis | Encephalitis | 322 | No | No | No | Alive | Tehran | 26 |
| P37 | 3 | 16 | M | Turkish | + | c.555_557del, p.F186del* | Otitis, diarrhea | Cervical LAP | 5 620 | mc-HL | Recurrent fever, chronic diarrhea | HSCT | Alive | Ankara | 26 |
| P38 | 2 | 8 | M | Turkish | + | c.555_557del, p.F186del* | URTI | Cervical LAP | NA | mc-HL | No | HSCT | Alive | Ankara | 26 |
| P39 | 1 | 6 | M | Caucasian | + | c.163-2A>G, p.W55Dfs*44 | No | IM, LPD | 27 700 | No | PFAPA-like periodic fever | HSCT | Alive | Genova | 27 |
| P40 | 7 | 16 | M | Turkish | + | c.G570A, p.Trp190* | URTI | LPD | 17 856 | HL | PFAPA-like periodic fever | HSCT | Alive | Ankara | |
| P41 | 9 | 11 | M | Turkish | + | c.C332T, p.T111M | No | Lymphadenitis | 411 000 | B-NHL | No | HSCT | Died | Istanbul | |
| P42 | 3 | 7 | F | Turkish | + | c.T2C, p.M1T | LRTI | IM LPD | NA | No | No | IgRT | Alive | Berlin | 28 |
| P43 | 4 | 6 | M | Turkish | + | c.C332T, p.T111M | LRTI | LPD | 233 | No | Chronic diarrhea | HSCT | Alive | Istanbul | |
| P44 | 3 | 3 | F | Turkish | + | c.C332T, p.T111M | LRTI | No | 309 402 | ns-HL | Chronic diarrhea | HSCT | Alive | Istanbul | |
| P45 | 1 | 1 | M | Turkish | + | c.C332T, p.T111M | LRTI | No | 24 000 | ns-HL | No | Planned for HSCT | Alive | Istanbul | |
| P46 | 3 | 10 | F | Iranian | + | c.G437T, p.S146I | LRTI, URTI | IM, LPD | 4 310 | No | Recurrent fever | No | Alive | Tehran | |
| P47 | 1 | 5 | F | Turkish | + | c.C332T, p.T111M | URTI | LPD | 67 500 | No | No | RTX, sirolimus, planned for HSCT | Alive | Ankara | |
| P48 | NA | 14 | M | Turkish | + | c.C332T, p.T111M | No | No | 0 | No | No | Planned for HSCT | Alive | Ankara | |
| P49 | 6 | 13 | M | Turkish | + | c.C332T, p.T111M | No | No | 0 | Burkitt lymphoma | No | Planned for HSCT | Alive | Ankara |
LAP, lymphadenopathy; PFAPA, periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis. See Table 1 for expansion of other abbreviations.
*
Age in years unless stated otherwise. Please note that the asterisks used in the “Age” column headings have no relation to those used in the “Mutation” column.