| Family . | A . | B . | C . | D . | |||
|---|---|---|---|---|---|---|---|
| Patient . | II.5 . | II.3 . | II.4 . | II.1 . | II.2 . | II.4 . | II . |
| Age (yr) | 11 | 11 | 10 | 23 | 18 | 9 | 5 |
| Ethnicity | African | Lebanese | Turkish | African | |||
| Consanguinity | Yes | Yes | Yes | Yes | |||
| LACC1 mutation | Homozygous c. 584 C>T p.T195I | Homozygous c. 827delC p.T276fs*2 | Homozygous c.1240 C>T p.R414* | Homozygous c.372delT p.D125Mfs*12 | |||
| CADD | NA | 22.6 | 42 | NA | |||
| GNOMAD | 0 | 0 | 0 | 0 | |||
| Disease | Severe pJIA | Severe pJIA | pJIA | Severe pJIA | |||
| Autoimmune characteristics | No antinuclear antibodies, no rheumatoid factors, no anti-cyclic citrullinated peptide | ||||||
| Lymphocytes (1,400–3,700/μl) | 1,410 | NA | NA | 1,213 | 1,395 | 3,600 | 5,000 |
| CD4 T cells (530–1,500/μl) | NA | NA | NA | 607 | 525 | 1285 | NA |
| CD8 T cells (330–1,100/μl) | NA | NA | NA | 309 | 455 | 708 | NA |
| CD19 B cells (110–860/μl) | NA | NA | NA | NA | 214 | 925 | NA |
| NK cells (100–480/μl) | NA | NA | NA | NA | 177 | 412 | NA |
| Sera Ig | |||||||
| IgG (4–15 g/liter) | 8.1 | NA | 5.3 | 3.4 | 10.3 | 8.1 | 3.6 |
| IgA (0.78–4.110.7 g/liter) | 0.54 | NA | 0.61 | 0.57 | 1.41 | 0.57 | 0.26 |
| IgM (0.9 g/liter) | 0.63 | NA | 0.26 | 0.64 | 0.31 | 0.77 | 0.19 |
| IgE (<12150 kU/liter) | 438 | NA | 6.4 | 16.4 | 2 | 178 | 75.6 |
| Age of onset | 5 mo | 16 mo | 15 mo | 12 mo | 11 mo | 4 yr | 2 yr |
| Associated uveitis | No | ||||||
| Treatments | Corticosteroids | Etanercept | Adalimumab | Etanercept | Etanercept | Corticosteroids | |
| Anakinra | Anakinra | Hydroxychloroquine | Anakinra | Methotrexate | |||
| Canakinumab | Tocilizumab | Secukinumab | Enbrel | ||||
| Tocilizumab | BMT | Tocilizumab,Baricitinib | Tocilizumab | ||||
| Methotrexate | |||||||
| Family . | A . | B . | C . | D . | |||
|---|---|---|---|---|---|---|---|
| Patient . | II.5 . | II.3 . | II.4 . | II.1 . | II.2 . | II.4 . | II . |
| Age (yr) | 11 | 11 | 10 | 23 | 18 | 9 | 5 |
| Ethnicity | African | Lebanese | Turkish | African | |||
| Consanguinity | Yes | Yes | Yes | Yes | |||
| LACC1 mutation | Homozygous c. 584 C>T p.T195I | Homozygous c. 827delC p.T276fs*2 | Homozygous c.1240 C>T p.R414* | Homozygous c.372delT p.D125Mfs*12 | |||
| CADD | NA | 22.6 | 42 | NA | |||
| GNOMAD | 0 | 0 | 0 | 0 | |||
| Disease | Severe pJIA | Severe pJIA | pJIA | Severe pJIA | |||
| Autoimmune characteristics | No antinuclear antibodies, no rheumatoid factors, no anti-cyclic citrullinated peptide | ||||||
| Lymphocytes (1,400–3,700/μl) | 1,410 | NA | NA | 1,213 | 1,395 | 3,600 | 5,000 |
| CD4 T cells (530–1,500/μl) | NA | NA | NA | 607 | 525 | 1285 | NA |
| CD8 T cells (330–1,100/μl) | NA | NA | NA | 309 | 455 | 708 | NA |
| CD19 B cells (110–860/μl) | NA | NA | NA | NA | 214 | 925 | NA |
| NK cells (100–480/μl) | NA | NA | NA | NA | 177 | 412 | NA |
| Sera Ig | |||||||
| IgG (4–15 g/liter) | 8.1 | NA | 5.3 | 3.4 | 10.3 | 8.1 | 3.6 |
| IgA (0.78–4.110.7 g/liter) | 0.54 | NA | 0.61 | 0.57 | 1.41 | 0.57 | 0.26 |
| IgM (0.9 g/liter) | 0.63 | NA | 0.26 | 0.64 | 0.31 | 0.77 | 0.19 |
| IgE (<12150 kU/liter) | 438 | NA | 6.4 | 16.4 | 2 | 178 | 75.6 |
| Age of onset | 5 mo | 16 mo | 15 mo | 12 mo | 11 mo | 4 yr | 2 yr |
| Associated uveitis | No | ||||||
| Treatments | Corticosteroids | Etanercept | Adalimumab | Etanercept | Etanercept | Corticosteroids | |
| Anakinra | Anakinra | Hydroxychloroquine | Anakinra | Methotrexate | |||
| Canakinumab | Tocilizumab | Secukinumab | Enbrel | ||||
| Tocilizumab | BMT | Tocilizumab,Baricitinib | Tocilizumab | ||||
| Methotrexate | |||||||
Text in italics indicates previous therapies; text in bold indicates current therapies. BMT, bone marrow transplant; CADD, combined annotation-dependent depletion; GNOMAD, Genome Aggregation Database; NA, not available; NK, natural killer cells.