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 |
| . | 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.