Table 1.
CVID+/CMV+ cohort: clinical characteristics.
| PATIENT | AGE/GENDER | GENETIC DIAGNOSIS | AGE OF CVID SYMPTON ONSET | AGEAT CVID DIAGNOSIS | AGE AT CMV DIAGNOSIS (YEARS FROM CVID Dx) | INFLAMMATORY DISEASE# | IATROGENIC IMMUNOSUPPRESSION (YEAR ADMINISTERED) | CMV MANIFESTATION: YEAR OF DIAGNOSIS (MODE OF DIAGNOSIS) | CMV TREATMENT^ | OTHER INFECTIONS | OUTCOME |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 32M | p50 haploinsufficiency (NFKB1); pathogenic | 10 | 26 | 30 (+4) | AIHA, inflammatory arthropathy, lymphocytic enteropathy, non-cirrhotic portal hypertension | Rituximab & prednisolone (2017-2019) | Enteritis: 2018 (IHC & tissue PCR), Pneumonitis, 2021 (BAL PCR) | G, V | Chronic Helicobacter Pylori, pulmonary Aspergillosis, recurrent sinopulmonary infections | Recurrent disease |
| Adalimumab (2021) | Deceased 2021 | ||||||||||
| 2 | 58F | p50 haploinsufficiency (NFKB1); pathogenic | 30 | 38 | 52 (+14) | Autoimmune pancytopenia, non-cirrhotic portal hypertension: liver transplant | Everolimus, prednisolone & cyclosporin (2016-2021) | Symptomatic viraemia: 2017, 2019 (whole blood PCR) | G, V | Chronic Norovirus, recurrent Campylobacter, recurrent sinopulmonary infections | Treatment success, chronic viraemia |
| 3 | 31M | CTLA4 haploinsufficiency; pathogenic | 16 | 23 | 17 (-6) | Severe lymhocytic enteropathy, autoimmune pancytopaenia, Burkitt’s lymphoma | Hyper-CVAD (2007) | Enteritis: 2012, 2020 (IHC & tissue PCR), Pneumonitis: 2020 (BAL cytology & PCR), Chronic asymptomatic viraemia: 2016-2021 (whole blood PCR) | G, V, V-induced neutropaenia | Chronic Norovirus, recurrent sinopulmonary infections | Recurrent disease |
| Rituximab (2007) | Deceased 2021 | ||||||||||
| Abatacept (2019-2020) | |||||||||||
| 4 | 60F | TNFRSF13B variant; risk gene | 37 | 42 | 58 (+16) | Granulomatous lymphocytic interstitial lung disease – lung transplant | Rituximab & azathioprine (2017) | Enteritis: 2019 (IHC & tissue PCR) | G, V, CMVIg+ Lifelong suppressive V | Recurrent sinopulmonary infections | Viral suppression |
| Prednisolone & tacrolimus (2017-2019) | Deceased 2019 | ||||||||||
| 5 | 58M | ZAP70 heterozygous; variant of uncertain significance | 46 | 50 | 52 (+2) | AIHA, inflammatory colitis, seronegative spondyloarthropathy | Rituximab & prednisolone (2012, 2014, 2020) | Enteritis: 2014, 2020 (IHC & tissue PCR) | G, V, CMV TCs G-induced neutropaenia | Oral candidiasis, recurrent Gram-negative sepsis | Recurrent disease |
| 6 | 32M | IκBNS deficiency (NFKBID); likely pathogenic | 15 | 19 | 23 (+4) | Pauci-immune crescenteric glomerulonephritis, non-cirrhotic portal hypertension, autoimmune pancytopaenia | Prednisolone (2016) Tocilizumab (2018) | Enteritis: 2018 (IHC & tissue PCR), Pneumonitis: 2018 (BAL cytology & PCR), Chronic symptomatic viraemia: 2016-2021 (whole blood PCR) | G, V | Epstein-Barr viral hepatitis, oral candidiasis | Refractory viraemia |
| Deceased 2019 |
#Inflammatory disease defined as the presence of autoimmune cytopaenia, autoimmune haemolytic anaemia (AIHA), enteropathy, lymphadenopathy/splenomegaly, lymphoproliferative disease, interstitial lung disease or seronegative spondyloarthritis^G, ganciclovir; V, valganciclovir; CMVIg, CMV-specific immunoglobulin; CMV TCs, Adoptive CMV-specific T lymphocyte therapy; +Cytogam (CSL Behring), 150 mg/kg, two infusions.