Table 1.
Treg deficiencies.
| Disease (gene) | OMIM/Inheritance | Clinical features | Targeted treatment | Increased risk of malignancy | Evidence of successful HSCT (reported cases n < 10, 10–100, >100) |
|---|---|---|---|---|---|
| IPEX (FOXP3) | 300292 XL | Treg dysfunction | Sirolimus | Not reported | 10–100 |
| Inflammatory bowel disease | |||||
| Type 1 diabetes | |||||
| Eczema with elevated IgE | |||||
| Failure to thrive | |||||
| Nephropathy | |||||
| Hemolytic anemia | |||||
| Thrombocytopenia, neutropenia, autoimmune thyroiditis | |||||
| Hepatitis | |||||
| Arthritis, | |||||
| Alopecia | |||||
| Neurological findings | |||||
| CD25 deficiency (CD25) | 147730 AR | Inflammatory bowel disease | No | Not reported | Not reported |
| AI cytopenias | |||||
| Autoimmune thyroiditis | |||||
| Growth retardation | |||||
| CTLA4 deficiency (CTLA4) | 123890 AD | Lymphoproliferation | Abatacept | EBV+ lymphoma, gastric cancer | 10–100 |
| Organ infiltration | |||||
| Inflammatory bowel disease | |||||
| Autoimmune cytopenia | |||||
| Enteropathy | |||||
| Hypogammaglobulinemia | |||||
| Respiratory infections | |||||
| Autoimmune thyroiditis | |||||
| Arthritis | |||||
| LRBA (LRBA) | 606453 AR | Inflammatory bowel disease | Abatacept | Gastric lymphoma | 10–100 |
| Malabsorption | |||||
| Failure to thrive | |||||
| Hypogammaglobulinemia | |||||
| Autoimmune cytopenia | |||||
| Endocrine manifestations | |||||
| BACH2 deficiency (BACH2) | 605394 AD | Immunoglobulin deficiency | No | Not reported | Not reported |
| Intestinal inflammation | |||||
| Autoimmunity | |||||
| STAT3 GOF (STAT3) | 102582 AD | Early-onset lymphoproliferation | Tocilizumab | LGL leukemia | 10–100 |
| Lymphadenopathy hepatosplenomegaly | JAK inhibitors | ||||
| Multiorgan autoimmunity, | |||||
| AI-cytopenias, -hepatitis, inflammatory lung disease enteropathy | |||||
| Hypothyroidism, | |||||
| Diabetes mellitus | |||||
| Growth retardation (variable) |