Table 1.
Detailed clinical information on patients with vasculitis due to RAG deficiency.
| ID | Age | Gene | Mutation | RAG activity | RAG phenotype | Type of vasculitis | Severity of vasculitis | Age at onset of vasculitis | Diagnosis | Autoantibodies | Other Autoimmunity | Treatment | Respose to therapy | Overall outcome (cause of death) | Reference | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| First-Line | Second-Line | Third-Line | |||||||||||||||
| Patient 1 | 6 yrs | RAG1 | a.W522C b.H994R |
a. 41.6% b. n.a. |
CID-G/AI | Henoch schonlein purpura | Severe/ multiorgan (CNS vasculitis, stroke) |
2.5 yrs | Serology Imaging |
Anti-IFN-α/ω, anti-IL12, Coombs+ p-ANCA | AIHA | Steroids, IVIG | – | HSCT (MUD) | Good | Deceased, 6 yrs(stroke) | Unpublished |
| Patient 2 | 2.7 yrs | RAG1 | a.R396C b.M435V |
a. 0.6% b. 23.6% |
CID-G/AI | Non-granulomatous-small vessel vasculitis | Severe/ multiorgan (digital necrosis) |
1.5 yrs | Serology Imaging Biopsy |
Anti-IFN-α/ω, anti-IL12, Coombs+ | AIHA | Steroids | Cyclophosphamide. rituximab | HSCT (MUD) | Poor | Deceased, 2.7 yrs (idiopathic pneumonia syndrome) | Unpublished |
| Patient 3 | 48 yrs | RAG1 | a.M1V b.R737H |
a. n.a. b. 0.2% |
CID-G/AI | Leukocytoclastic vasculitis | Mild/skin only | 8 yrs | Serology Imaging Biopsy |
Anti-IFN-α, ANA, anti-dsDNA, RF, anti-TG/TPO/TSHR | None | Steroids, IVIG | – | – | Good | Deceased, 48 yrs (COPD) | (1) |
| Patient 4 | 2 yrs | RAG1 | a.R841Q b.F974L |
a. 0% b. 56.5% |
CID-G/AI | Non-granulomatous-small vessel vasculitis | Severe/ multiorgan (digital necrosis) |
0.5 yrs | Serology Imaging |
APLA, Coombs+, anti-platelet, anti-TPO | AIHA, ITP, AN, inflamatory myopathy, AIH | Steroids, IVIG | Rituximab | – | Good | Deceased, 2 yrs (enterobacter sepsis) | (6) |
| Patient 5 | 3.4 yrs | RAG2 | a.G35A b.A456D |
a.22.1% b. n.a. |
CID-G/AI | n.a. | Severe/ multiorgan (n.a.) |
0.5 yrs | n.a. | – | ITP | Steroids, IVIG | Alemtuzumab | HSCT (n.a.) | Good | Alive | Unpublished |
| Patient 6 | 15 yrs | RAG1 | a.fs188X b.A444V |
a. 2.7% b.1.4% |
CID-G/AI | Non-granulomatous-small vessel vasculitis | Mild/ skin only |
12.5 yrs | Serology Imaging Biopsy |
– | Cutaneous granulomatosis | Steroids, IVIG | – | – | Good | Deceased, 15 yrs (pulmonary fibrosis) | (26) |
| Patient 7 | 5 yrs | RAG1 | a.b.A444V | a.b. 1.4% | CID-G/AI | Kawasaki disease | Mild/ skin only |
1.5 yrs | Serology | Anti-IFN-α, ANA | Macrophage activation syndrome (MAS), SLE | Steroids | – | – | Good | Alive | (28) |
| Patient 8 | 7.5 yrs | RAG1 | a.b.R699W | a.b. 19.3% | CID-G/AI | Polyarteritis nodosa | Severe/ multiorgan (digital necrosis) |
2.5 yrs | Serology Biopsy |
– | AIHA | Steroids | Cyclophosphamide. azathioprine | – | Partial | Alive | (27) |