Table 3.
Ongoing projects within the GAIN registry
| Project name | CTLA4 insufficiency | NFKB1 insufficiency | NFKB2 insufficiency | ADA2 deficiency | CARD11-GOF disease | RELA insufficiency | STAT3-GOF disease |
|---|---|---|---|---|---|---|---|
| Responsible person | Bodo Grimbacher | Bodo Grimbacher | Bodo Grimbacher | Fabian Hauck | Fabian Hauck | Min-Ae Lee-Kirsch | Stephan Ehl |
| Inclusion criteria | All patients with pathogenic mutations in CTLA4 | All patients with pathogenic mutations in NFKB1 | All patients with pathogenic mutations in NFKB2 | All patients with pathogenic mutations in ADA2 | All patients with pathogenic gain-of-function mutations in CARD11 | All patients with pathogenic mutations in RELA | All patients with pathogenic gain-of-function mutations in STAT3 |
| Exclusion criteria | Not consented individuals | Not consented individuals | Not consented individuals | Not consented individuals | Not consented individuals | Not consented individuals | Not consented individuals |
| No. of patients | 40 | 48 | 18 | 10 | starting 01/2023 | starting 01/2023 | 12 |
| Main research goals | Which complications are common in CTLA4 insufficiency? Which drugs are successfully used to treat these? | Which complications are common in NFKB1 insufficiency? Which drugs are successfully used to treat these? | Which complications are common in NFKB2 insufficiency? Which drugs are successfully used to treat these? | Describe the extended clinical phenotype of patients with biallelic mutations in ADA2 | Describe the extended clinical phenotype of patients with gain-of-function mutations in CARD11 | Describe the extended clinical phenotype of patients with mutations in RELA | Describe the extended clinical phenotype of patients with gain-of-function mutations in STAT3 |
| Secondary research goals | Identify biomarkers for treatment response and treatment failure | Identify biomarkers for treatment response and treatment failure | Identify biomarkers for treatment response and treatment failure. Assess the importance of anti-interferon antibodies in patients with NFKB2 insufficiency | Identify biomarkers for treatment response and treatment failure | Identify biomarkers for treatment response and treatment failure | Identify biomarkers for treatment response and treatment failure | Identify biomarkers for treatment response and treatment failure |
| Starting time | 2019 | 2019 | 2019 | 2019 | 2023 | 2023 | 2019 |
| Planned project duration | 9 years | 9 years | 9 years | 9 years | 6 years | 6 years | 9 years |