Version May 2024
| Key findings | Comments |
| Very early age of onset of IBD-like immunopathology | Likelihood increases with very early onset, particularly in those younger than two years of age at diagnosis |
| Family history | In particular consanguinity, predominance of affected males in families, or multiple family members affected |
| Atypical endoscopic or histological findings | For example, extreme epithelial apoptosis or loss of germinal centers |
| Resistance to conventional therapies | Such as exclusive enteral nutrition, corticosteroids, and/or biological therapy |
| Skin lesions, nail dystrophy, or hair abnormalities | For example, epidermolysis bullosa, eczema, folliculitis, pyoderma or abscesses, woolen hair, or trichorrhexis nodosa |
| Severe or very early onset perianal disease | Fistulas and abscesses |
| Lymphoid organ abnormalities | For example, lymph node abscesses, splenomegaly |
| Recurrent or atypical infections | Intestinal and nonintestinal |
| Hemophagocytic lymphohistiocytosis | Induced by viral infections, such as Epstein-Barr virus or cytomegalovirus or macrophage activation syndrome |
| Associated autoimmunity | For example, arthritis, serositis, sclerosing cholangitis, anemia, and endocrine dysfunction, such as thyroiditis, type 1 diabetes mellitus |
| Early development of tumors | For example, non-Hodgkin lymphoma, skin tumors, hamartoma, thyroid tumors |
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