Table 1.
Characteristics of patient with CD27 deficiency
| Ethnicity | Sex | Age of onset of symptoms/age of diagnosis (years) | Clinical features | Treatment | Outcome | Mutation | |
| 1 | Moroccan (F1) | M | 2.5/21 | Fever, LAP, HSM, primary HGG, | IVIG | Alive | HOM, NS c.G24A/p.W8X, Exon 1 |
| 2 | Moroccan (F1) | M | 3/PM | Fever, LAP, HSM, uveitis, aplastic anaemia, sepsis | Acyclovir | Died aged 4 years | “ |
| 3 | Turkish (F2) | F | 1/1 | IM, HGG, Recurrent EBV-related LPD, HLH | Steroids, IVIG, rituximab, 375 mg/m2×4, repeat course after 1 y |
Alive with borderline 20 HGG |
HOM, MS c.G158A/p.C53Y, Exon 2 |
| 4 | Turkish (F2) | F | 4/14 | Severe varicella (age 4 years), borderline HGG | None | Alive | “ |
| 5 | Turkish (F2) |
M | NA/ 4 | Subclinical EBV, CMV, borderline HGG | Prophylactic IVIG |
Alive | “ |
| 6 | Lebanese (F3) | M | 1.5/4 | HLH, recurrent infections, oral ulcers, EBV-related LPD, secondary HGG |
Rituximab and HLH-2004, repeat treatment and cord HSCT on relapse | Alive | “ |
| 7 | Lebanese (F3) | F | 1/1 | Oral and anal ulcers, uveitis, chronic EBV viremia, EBV meningitis, recurrent infections, secondary HGG |
IVIG, rituximab, HSCT |
Alive | “ |
| 8 | Lebanese (F4) | M | 15/15 | Oral ulcers, uveitis, chronic EBV viremia, recurrent infections, EBV-related LPD, T-cell lymphoma |
IVIG, rituximab, R-CHOP, cord HSCT |
Alive | “ |
| 9 | Lebanese (F4) | F | 2/PM | EBV-driven lymphoma (DLBCL) | Prednisolone | Died aged 2 years | |
| 10 | Lebanese (F4) | F | 22/PM | EBV-driven lymphoma (DLBCL) | CHOP | Died aged 22 years | |
| 11 | German (F5)- NCM | F | 4/9 | Fever, HSM pancytopenia, EBV encephalitis, 20 HLH, extra nodal LPD orbit | HLH 2004 (poor response), rituximab (275 g/m2), IVIG repeat rituximab (for LPD) | Alive with 20 HGG | HET, NS, c.C30A/p.C10X, Exon 1 |
| 12 | German (F6)- NCM |
F | 13/17 | Chronic active EBV infection with ulcer, uveitis, LN, fever, mixed cellularity HD, HLH | EuroNet PHL-C1 protocol. IVIG for20 HGG | Alive with postchemotherapy peripheral neuropathy (VCR) and 20 HGG | Compound HET c.C319T/p.R107C and c.G24A/p.W8X, Exon 1, 3 |
| 13 | Turkish (F7) | F | 7/7 | Recurrent pneumonia, LAP, splenomegaly | Rituximab (2×500 mg/m2), 3 times | Alive with 20 HGG requiring IVIG | HOM, MS, c.G287A/p.C96Y, Exon 3 |
| 14 | Turkish (F7) | F | 6/13 | Primary EBV infection | Symptomatic management | Alive, asymptomatic | “ |
| 15 | Iranian (F8) | F | 5/PM | CVID/HGG at 13 years, recurrent pneumonia/infections, bronchiectasis, eczema, skin abscess, LAP, HSM, chronic hepatitis, HD nodular sclerosis, infections, hepatic failure | IVIG | Died aged 20 years | HOM, MS c.G287A/p.C96Y, Exon 3 |
| 16 | Iranian (F8) | M | 8/32 | Recurrent influenza, EBV infection, HD nodular sclerosis, decreased IgA, infections | Chemotherapy (ABVD) and radiotherapy | Alive | “ |
| 17 | Iranian (F8) | F | 16/PM | EBV, nodular sclerosis classical HD. Infections. | Chemotherapy and radiotherapy | Died (age not known) | Not tested |
| 18 | Iranian (F9) | F | 8/PM | Recurrent URI, bronchitis, sinusitis, pneumonia, HGG/CVID, IM, chronic diarrhoea, giardiasis, EBV pneumonia | IVIG | Died aged 25 years | HOM, MS c.C232T/p.R78W Exon 3 |
| 19 | Tunisian (F10) |
NK | NK | Recurrent EBV lymphoproliferative disease | NK | NK | HOM, c.G329A/p.W110X |
ABVD, adriamycin, bleomycin, vinblastine, dacarbazine; CHOP-R, rituximab and chemotherapy; CMV, cytomegalovirus; CVID, common variable immune deficiency; DLBCL, diffuse large B cell lymphoma; EBV, Epstein Barr Virus; EuroNet PHL-C1, vincristine, adriamycin, etoposide, prednisolone; F, female; F1 to F9, family 1 to family 9; HD, Hodgkin’s disease; HET, heterozygous; HGG, hypogammaglobulinemia; HLH, haemophagocytic lymphohistiocytosis; HOM, homozygous; HSCT, haematopoietic stem cell transplant; HSM, hepatosplenomegaly; IM, infectious mononucleosis; IVIG, intravenous immunoglobulin; LAP, lymphadenopathy; LPD, lymphoproliferative disorder; M, male; MS, missense mutation; NA, not applicable (as detected on screening); NCM, non-consanguineous marriage; NK, not known; NS, nonsense mutation; PM, postmortem; URI, upper respiratory tract infections; VCR, vincristine.