- Subtable 1 Associated with somatic mutations
- Subtable 2 Associated with autoantibodies
|
Subtable 1 Associated with somatic mutations
|
| Disease |
Genetic defect |
Inheri-tance |
ICD10 |
SLIPI:s riktlinjer |
| Autoimmune lymphoproliferative syndrome (ALPS–SFAS) |
Somatic mutation in TNFRSF6 |
|
| RAS-associated autoimmune leukoproliferative disease (RALD) |
Somatic mutation in KRAS (GOF) |
| RAS-associated autoimmune leukoproliferative disease (RALD) |
Somatic mutation in NRAS (GOF) |
| Cryopyrinopathy, (Muckle-Wells/CINCA/NOMID-like syndrome) |
Somatic mutation in NLRP3 |
|
| Hypereosinophilic syndrome due to somatic mutations in STAT5b |
Somatic mutation in STAT5B (GOF) |
| VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome |
Somatic mutation in UBA1 (XL) |
D89.9 |
|
| TLR8 GOF |
Somatic mutation in TLR8 |
D89.9 |
|
Subtable 2 Associated with autoantibodies
|
| Disease |
Genetic defect |
Inheri-tance |
ICD10 |
SLIPI:s riktlinjer |
| Chronic mucocutaneous candidiasis |
AutoAb to IL-17 and/or IL-22 |
|
| Adult-onset immunodeficiency with susceptibility to mycobacteria |
AutoAb to IFNγ |
|
|
| Recurrent skin infection |
AutoAb to IL-6 |
|
|
| Pulmonary alveolar proteinosis |
AutoAb to GM-CSF |
|
|
| Acquired angioedema |
AutoAb to CI inhibitor |
|
| Atypical hemolytic uremic syndrome |
AutoAb to Complement Factor H |
| Thymoma with hypogammaglobulinemia (Good syndrome) |
AutoAb to various cytokines |
|
| Severe Covid-19 |
AutoAb to type 1 IFNs (IFNα alfa, IFNω omega) |
D89.9 |
|
| |
|
|
|
|
Till Diagnoser - Major Categories
