Syndromes with overlapping features
| Disorder (OMIM) | Inheritance | Common features | Distinguishing features |
|---|---|---|---|
| Transient neonatal diabetes (601410) | Usually sporadic | Neonatal onset insulin dependent diabetes | Transient, isolated DM without autoimmune features. Uniparental disomy or paternal duplication at 6q22-q23 |
| Pancreatic hypoplasia (260370, 60001) or agenesis (260370) | AR, AD for 60001 | Neonatal onset insulin dependent diabetes | May have exocrine pancreatic insufficiency. No autoimmune features. |
| Islet beta cell developmental defect (600089, 606176) | AR | Neonatal onset insulin dependent diabetes | No autoimmune features. Mutant glucokinase gene in some. |
| Wiskott-Aldrich syndrome (301000) | XR | Autoimmunity, including eczema, thrombocytopenia, and occasional enteropathy, early death | Later age of onset, chronic immunodeficiency, abnormalities of platelet size, low CD8+ T cell count, skewed X inactivation in lymphocytes from female carriers. Mutant WAS gene. |
| Autoimmune polyendocrinopathy, candidiasis, ectodermal dystrophy (APECED) (240300) | AR | Malabsorbtion, diarrhoea, insulin dependent diabetes or hyopothyroidism occurs infrequently | Later age of onset, candidiasis, and ectodermal dystrophy rather than eczema. Mutant AIRE gene |
| Schmidt syndrome/polyglandular autoimmune syndrome type II (269200) | Complex | Autoimmune thyroiditis, T1DM, anaemia | Later age of onset, Addison disease, gonadal atrophy; pernicious anemia |
| Omenn syndrome (603554) | AR | Erythroderma with T cell infiltration and thickening, lymphadenopathy, protracted diarrhoea, failure to thrive, eosinophilia and raised IgE | Reduced or absent B cells, poor T cell proliferative responses. No T1DM. Mutant RAG1 or RAG2 genes. |
| Intractable diarrhoea with persistent villous atrophy/X linked autoimmune enteropathy | XR | Severe enteropathy with flattening or loss of mucosa and immune cell infiltration, eczema | T1DM less frequent. Allelism with IPEX has not been excluded. |