Genetic diagnoses and clinical reclassification before and after genetic testing
| Disease | Gene | Total, n | Pre-genetic testing classification (n = ID, AID, non-ID/AID) | IUIS 2024 group |
|---|---|---|---|---|
| Cryopyrin-associated periodic syndrome | NLRP3 | 4 | 0, 4, 0 | Autoinflammatory diseases |
| CTLA4 haploinsufficiency | CTLA4 | 2 | 1, 0, 1 | Diseases of immune dysregulation |
| NFKB1 deficiency | NFKB1 | 1 | 1, 0, 0 | Predominantly antibody deficiencies |
| NFKB2 deficiency | NFKB2 | 1 | 1, 0, 0 | Predominantly antibody deficiencies |
| VEXAS syndrome | UBA1 | 2 | 0, 0, 2 | Somatic-associated autoinflammatory diseases |
| Blau syndrome | NOD2 | 1 | 0, 0, 1 | Autoinflammatory diseases |
| Perforin deficiency | PRF1 | 1 | 1, 0, 0 | Diseases of immune dysregulation |
| GATA2 deficiency | GATA2 | 1 | 1, 0, 0 | Combined immune deficiency |
| ROSAH syndrome | ALPK1 | 1 | 0, 1, 0 | Autoinflammatory diseases |
| ICOS deficiency | ICOS | 1 | 1, 0, 0 | Predominantly antibody deficiencies |
| Disease | Gene | Total, | Pre-genetic testing classification ( | IUIS 2024 group |
|---|---|---|---|---|
| Cryopyrin-associated periodic syndrome | 4 | 0, 4, 0 | Autoinflammatory diseases | |
| CTLA4 haploinsufficiency | 2 | 1, 0, 1 | Diseases of immune dysregulation | |
| NFKB1 deficiency | 1 | 1, 0, 0 | Predominantly antibody deficiencies | |
| NFKB2 deficiency | 1 | 1, 0, 0 | Predominantly antibody deficiencies | |
| VEXAS syndrome | 2 | 0, 0, 2 | Somatic-associated autoinflammatory diseases | |
| Blau syndrome | 1 | 0, 0, 1 | Autoinflammatory diseases | |
| Perforin deficiency | 1 | 1, 0, 0 | Diseases of immune dysregulation | |
| GATA2 deficiency | 1 | 1, 0, 0 | Combined immune deficiency | |
| ROSAH syndrome | 1 | 0, 1, 0 | Autoinflammatory diseases | |
| ICOS deficiency | 1 | 1, 0, 0 | Predominantly antibody deficiencies |
This table summarizes the genetic diagnoses identified in the cohort, including associated genes, IUIS disease categories, and corresponding clinical classification before and after genetic testing. The pre-genetic classification was defined prior to genetic testing based on the dominant phenotype: ID, AID, or non-ID/AID. The post-genetic classification reflects the final clinical categorization reassigned after integrating genetic findings and the corresponding IUIS disease group. ROSAH, retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, headache.
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