Clinical features and genetic variants of patients with CD27 deficiency
| . | Age at onset* . | Age at diagnosis* . | Sex . | Ethnicity . | Consanguinity† . | Mutation NM_001242.5 . | Infections . | EBV-related symptoms . | Max EBV load‡ . | MALIGNANCY . | Other symptoms . | Treatment . | Outcome . | Center . | Ref . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P1 | 2 | 21 | M | Moroccan | + | c.G24A, p.W8* | No | IM | 3 000 | No | No | IgRT | Alive | Utrecht | 21, 23 |
| P2 | 3 | PM | M | Moroccan | + | c.G24A, p.W8* | Sepsis due to cytopenia | IM, possibly HLH (previously reported as aplastic anemia) | 2 050 | No | Uveitis | No | Died | Utrecht | 21, 23 |
| P3 | 1 | 1 | F | Turkish | + | c.G158A, p.C53Y | LRTI, sepsis, phlegmons | HLH, LPD | 2 000 000 | No | No | IgRT, RTX | Alive | Vienna | 22, 23 |
| P4 | NA | 12 | M | Turkish | + | c.G158A, p.C53Y | No | No | 0 | No | No | No | Alive | Vienna | 22, 23 |
| P5 | 1 | 0 | F | Turkish | + | c.G158A, p.C53Y | Phlegmons | IM | 4 400 | No | Arthritis | IgRT | Alive | Vienna | 22, 23 |
| P6 | 1 | 4 | M | Lebanese | − | c.G158A, p.C53Y | Recurrent infections | LPD, HLH | 5 000 000 | No | Oral ulcers | HLH2004, RTX, HSCT | Alive | Melbourne | 22, 23 |
| P7 | 1 | 1 | F | Lebanese | − | c.G158A, p.C53Y | URTI | Meningitis | 8 000 000 | No | Oral ulcers, uveitis | RTX, HSCT | Alive | Melbourne | 22, 23 |
| P8 | 15 | 19 | M | Lebanese | + | c.G158A, p.C53Y | No | CAEBV, LPD | 25 000 000 | No | Oral ulcers, uveitis | RTX, chemo, HSCT | Alive | Melbourne | 22, 23 |
| P9 | 2 | PM | F | Lebanese | + | c.G158A, p.C53Y | No | LPD | NA | DLBCL (EBV+) | Oral ulcers | chemo | Died | Melbourne | 22, 23 |
| P10 | 22 | PM | F | Lebanese | + | c.G158A, p.C53Y | No | CAEBV, LPD | 270 000 | No | No | Steroids | Died | Melbourne | 22, 23 |
| P11 | 4 | 9 | F | German | − | het c.C30A/ p.C10* | No | LPD, HLH | 1 000 000 | No | No | IgRT, HLH2004, RTX | Alive | Krefeld | 23 |
| P12 | 13 | 17 | F | German | − | c.G24A/ c.C319T p.W8*/ p.R107C | Ulcers | CAEBV | 320 000 | mc-HL | Oral ulcers, uveitis | IgRT, chemo | Alive | Krefeld | 23 |
| P13 | 7 | 7 | F | Turkish | + | c.G287A, p.C96Y | LRTI | LPD, HLH | 2 200 000 | No | No | RTX, HLH2004, HSCT | Alive | Leiden/ Rotterdam | 23 |
| P14 | 6 | 13 | F | Turkish | + | c.G287A, p.C96Y | No | IM | 0 | No | No | No | Alive | Leiden/ Rotterdam | 23 |
| P15 | 6 | PM | F | Iranian | + | c.G287A, p.C96Y | RTI, skin abscesses bronchiectasis, toxoplasmosis | IM | 3 700 | ns-HL | Recurrent fever, eczema | IgRT, chemo | Died | Tehran | 23 |
| P16 | 8 | 32 | M | Iranian | + | c.G287A, p.C96Y | URTI | IM | 930 | ns-HL | No | chemo | Alive | Tehran | 23 |
| P17 | 8 | PM | F | Iranian | + | c.C232T, p.R78W | Recurrent infections | IM, EBV pneumonia | 930 | No | Recurrent fever, stomatitis | No | Died | Tehran | 23 |
| P18 | 2 | 2 | F | Syrian | + | c.266_267del, p.S89Wfs*14 | No | HLH, LPD | 259 000 | DLBCL | Recurrent fever | RTX, IgRT, chemo, HSCT | Alive | Duesseldorf | 23 |
| P19 | NA | 2 | M | Syrian | + | c.266_267del, p.S89Wfs*14 | No | No | 626 | No | No | No | Alive | Duesseldorf | |
| P20 | 15 | 20 | F | Iraqi | NA | c.G158A, p.C53Y | No | Viremia | 12 00 | ns-HL | No | chemo, IgRT | Alive | Duesseldorf/Essen | |
| P21 | 13 | 13 | M | Iraqi | NA | c.G158A, p.C53Y | No | Viremia | 32 195 | mc-HL | No | chemo, IgRT | Alive | Essen | |
| P22 | NA | 30 | M | Bangladeshi | NA | c.C280T, p.R94C | No | No | 45 031 | No | Asthma, eczema | No | Alive | London | |
| P23 | NA | 8 | M | Bangladeshi | NA | c.C280T, p.R94C | No | Viremia | 16 652 | No | No | No | Alive | London | |
| P24 | 8 mo | 7 | M | Bangladeshi | NA | c.C280T, p.R94C | URTI | EBV encephalitis | 2 000 000 | No | Vasculitis, arthritis, | RTX, IgRT | Alive | London | |
| P25 | 1 | 3 | F | Turkish | + | c.G137A, p.G46Q | No | Viremia, LPD | 665 000 | No | No | HSCT | Alive | Kayseri | |
| P26 | 14 | 14 | M | English | − | c.251_252insT, p.C71fs*44 | No | Viremia | 45 000 000 | HL, DLBCL | Recurrent tonsillitis | HSCT | Alive | London | 33 |
| P27 | 5 | 5 | F | Tunisian | − | c.G329A, p.W110* | LRTI, skin infections | Viremia, LPD | 1 000 000 | No | Arthritis, uveitis | MTX, HSCT | Alive | Paris | |
| P28 | 5 | 7 | M | Iranian | + | c.T94C, p.Y32H | LRTI | IM, LPD, HLH | 7 250 | No | Recurrent fever, uveitis, arthritis | IgRT, RTX | Alive | Tehran | |
| P29 | 4 | 5 | F | Iranian | + | c.T94C, p.Y32H | LRTI | IM, LPD, HLH | 8 220 | No | Recurrent fever | IgRT, RTX | Alive | Tehran | |
| P30 | 3 | 4 | M | Turkish | + | c.G98A, p.W33* | No | No | 0 | HL | No | HSCT | Alive | Kayseri | |
| P31 | 3 | 10 | F | Indian | − | c.A95G, p.Y32C | LRTI | LPD | 474 188 | B-NHL | Oral ulcers, IBD | RTX, steroids | Died | Delhi | 25 |
| P32 | 8 | 8 | F | Turkish | + | c.18 del, p.W7G*44 | No | No | 85 | mc-HL | No | R-ABVD, HSCT | Alive | Ankara | |
| P33 | 3 | 3 | F | Turkish | + | c.18 del, p.W7G*44 | No | No | 2 500 | ns-HL, Burkitt | No | RTX, HSCT | Alive | Ankara |
| . | Age at onset* . | Age at diagnosis* . | Sex . | Ethnicity . | Consanguinity† . | Mutation NM_001242.5 . | Infections . | EBV-related symptoms . | Max EBV load‡ . | MALIGNANCY . | Other symptoms . | Treatment . | Outcome . | Center . | Ref . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P1 | 2 | 21 | M | Moroccan | + | c.G24A, p.W8* | No | IM | 3 000 | No | No | IgRT | Alive | Utrecht | 21, 23 |
| P2 | 3 | PM | M | Moroccan | + | c.G24A, p.W8* | Sepsis due to cytopenia | IM, possibly HLH (previously reported as aplastic anemia) | 2 050 | No | Uveitis | No | Died | Utrecht | 21, 23 |
| P3 | 1 | 1 | F | Turkish | + | c.G158A, p.C53Y | LRTI, sepsis, phlegmons | HLH, LPD | 2 000 000 | No | No | IgRT, RTX | Alive | Vienna | 22, 23 |
| P4 | NA | 12 | M | Turkish | + | c.G158A, p.C53Y | No | No | 0 | No | No | No | Alive | Vienna | 22, 23 |
| P5 | 1 | 0 | F | Turkish | + | c.G158A, p.C53Y | Phlegmons | IM | 4 400 | No | Arthritis | IgRT | Alive | Vienna | 22, 23 |
| P6 | 1 | 4 | M | Lebanese | − | c.G158A, p.C53Y | Recurrent infections | LPD, HLH | 5 000 000 | No | Oral ulcers | HLH2004, RTX, HSCT | Alive | Melbourne | 22, 23 |
| P7 | 1 | 1 | F | Lebanese | − | c.G158A, p.C53Y | URTI | Meningitis | 8 000 000 | No | Oral ulcers, uveitis | RTX, HSCT | Alive | Melbourne | 22, 23 |
| P8 | 15 | 19 | M | Lebanese | + | c.G158A, p.C53Y | No | CAEBV, LPD | 25 000 000 | No | Oral ulcers, uveitis | RTX, chemo, HSCT | Alive | Melbourne | 22, 23 |
| P9 | 2 | PM | F | Lebanese | + | c.G158A, p.C53Y | No | LPD | NA | DLBCL (EBV+) | Oral ulcers | chemo | Died | Melbourne | 22, 23 |
| P10 | 22 | PM | F | Lebanese | + | c.G158A, p.C53Y | No | CAEBV, LPD | 270 000 | No | No | Steroids | Died | Melbourne | 22, 23 |
| P11 | 4 | 9 | F | German | − | het c.C30A/ p.C10* | No | LPD, HLH | 1 000 000 | No | No | IgRT, HLH2004, RTX | Alive | Krefeld | 23 |
| P12 | 13 | 17 | F | German | − | c.G24A/ c.C319T p.W8*/ p.R107C | Ulcers | CAEBV | 320 000 | mc-HL | Oral ulcers, uveitis | IgRT, chemo | Alive | Krefeld | 23 |
| P13 | 7 | 7 | F | Turkish | + | c.G287A, p.C96Y | LRTI | LPD, HLH | 2 200 000 | No | No | RTX, HLH2004, HSCT | Alive | Leiden/ Rotterdam | 23 |
| P14 | 6 | 13 | F | Turkish | + | c.G287A, p.C96Y | No | IM | 0 | No | No | No | Alive | Leiden/ Rotterdam | 23 |
| P15 | 6 | PM | F | Iranian | + | c.G287A, p.C96Y | RTI, skin abscesses bronchiectasis, toxoplasmosis | IM | 3 700 | ns-HL | Recurrent fever, eczema | IgRT, chemo | Died | Tehran | 23 |
| P16 | 8 | 32 | M | Iranian | + | c.G287A, p.C96Y | URTI | IM | 930 | ns-HL | No | chemo | Alive | Tehran | 23 |
| P17 | 8 | PM | F | Iranian | + | c.C232T, p.R78W | Recurrent infections | IM, EBV pneumonia | 930 | No | Recurrent fever, stomatitis | No | Died | Tehran | 23 |
| P18 | 2 | 2 | F | Syrian | + | c.266_267del, p.S89Wfs*14 | No | HLH, LPD | 259 000 | DLBCL | Recurrent fever | RTX, IgRT, chemo, HSCT | Alive | Duesseldorf | 23 |
| P19 | NA | 2 | M | Syrian | + | c.266_267del, p.S89Wfs*14 | No | No | 626 | No | No | No | Alive | Duesseldorf | |
| P20 | 15 | 20 | F | Iraqi | NA | c.G158A, p.C53Y | No | Viremia | 12 00 | ns-HL | No | chemo, IgRT | Alive | Duesseldorf/Essen | |
| P21 | 13 | 13 | M | Iraqi | NA | c.G158A, p.C53Y | No | Viremia | 32 195 | mc-HL | No | chemo, IgRT | Alive | Essen | |
| P22 | NA | 30 | M | Bangladeshi | NA | c.C280T, p.R94C | No | No | 45 031 | No | Asthma, eczema | No | Alive | London | |
| P23 | NA | 8 | M | Bangladeshi | NA | c.C280T, p.R94C | No | Viremia | 16 652 | No | No | No | Alive | London | |
| P24 | 8 mo | 7 | M | Bangladeshi | NA | c.C280T, p.R94C | URTI | EBV encephalitis | 2 000 000 | No | Vasculitis, arthritis, | RTX, IgRT | Alive | London | |
| P25 | 1 | 3 | F | Turkish | + | c.G137A, p.G46Q | No | Viremia, LPD | 665 000 | No | No | HSCT | Alive | Kayseri | |
| P26 | 14 | 14 | M | English | − | c.251_252insT, p.C71fs*44 | No | Viremia | 45 000 000 | HL, DLBCL | Recurrent tonsillitis | HSCT | Alive | London | 33 |
| P27 | 5 | 5 | F | Tunisian | − | c.G329A, p.W110* | LRTI, skin infections | Viremia, LPD | 1 000 000 | No | Arthritis, uveitis | MTX, HSCT | Alive | Paris | |
| P28 | 5 | 7 | M | Iranian | + | c.T94C, p.Y32H | LRTI | IM, LPD, HLH | 7 250 | No | Recurrent fever, uveitis, arthritis | IgRT, RTX | Alive | Tehran | |
| P29 | 4 | 5 | F | Iranian | + | c.T94C, p.Y32H | LRTI | IM, LPD, HLH | 8 220 | No | Recurrent fever | IgRT, RTX | Alive | Tehran | |
| P30 | 3 | 4 | M | Turkish | + | c.G98A, p.W33* | No | No | 0 | HL | No | HSCT | Alive | Kayseri | |
| P31 | 3 | 10 | F | Indian | − | c.A95G, p.Y32C | LRTI | LPD | 474 188 | B-NHL | Oral ulcers, IBD | RTX, steroids | Died | Delhi | 25 |
| P32 | 8 | 8 | F | Turkish | + | c.18 del, p.W7G*44 | No | No | 85 | mc-HL | No | R-ABVD, HSCT | Alive | Ankara | |
| P33 | 3 | 3 | F | Turkish | + | c.18 del, p.W7G*44 | No | No | 2 500 | ns-HL, Burkitt | No | RTX, HSCT | Alive | Ankara |
B-NHL, B-cell non-Hodgkin lymphoma; chemo, chemotherapy; DLBCL, diffuse large B-cell lymphoma; F, female; IBD, inflammatory bowel disease; IgRT, immunoglobulin replacement therapy; LRTI, lower respiratory tract infection; M, male; Max, maximum; mc-HL, mixed-cellularity Hodgkin lymphoma; MTX, methotrexate; NA, not applicable; ns-HL, nodular sclerosis Hodgkin lymphoma; PM, postmortem; R-ABVD, rituximab with doxorubicin, bleomycin, vinblastine, and dacarbazine; Ref., reference for previous publications; RTI, respiratory tract infection; RTX, rituximab; URTI, upper respiratory tract infection.
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.
+indicates positive; −, negative.
PCR copy numbers