Table 7

Syndromes with overlapping features

Disorder (OMIM)InheritanceCommon featuresDistinguishing features
Transient neonatal diabetes (601410)Usually sporadicNeonatal onset insulin dependent diabetesTransient, isolated DM without autoimmune features. Uniparental disomy or paternal duplication at 6q22-q23
Pancreatic hypoplasia (260370, 60001) or agenesis (260370)AR, AD for 60001Neonatal onset insulin dependent diabetesMay have exocrine pancreatic insufficiency. No autoimmune features.
Islet beta cell developmental defect (600089, 606176)ARNeonatal onset insulin dependent diabetesNo autoimmune features. Mutant glucokinase gene in some.
Wiskott-Aldrich syndrome (301000)XRAutoimmunity, including eczema, thrombocytopenia, and occasional enteropathy, early deathLater 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)ARMalabsorbtion, diarrhoea, insulin dependent diabetes or hyopothyroidism occurs infrequentlyLater age of onset, candidiasis, and ectodermal dystrophy rather than eczema. Mutant AIRE gene
Schmidt syndrome/polyglandular autoimmune syndrome type II (269200)ComplexAutoimmune thyroiditis, T1DM, anaemiaLater age of onset, Addison disease, gonadal atrophy; pernicious anemia
Omenn syndrome (603554)ARErythroderma with T cell infiltration and thickening, lymphadenopathy, protracted diarrhoea, failure to thrive, eosinophilia and raised IgEReduced 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 enteropathyXRSevere enteropathy with flattening or loss of mucosa and immune cell infiltration, eczemaT1DM less frequent. Allelism with IPEX has not been excluded.