Suspected primary immunodeficiency diagnosed by a consultant immunologist
Indications include patients with any of the eight International Union of Immunological Societies (IUIS) categories of primary immunodeficiency:
1. Combined immunodeficiency, with or without associated features and abnormal T cell numbers or function. This may include abnormal naïve T cells, TRECs, repertoire, proliferations (e.g. PHA), reversed Cd4/8 ratio or increased gamma delta T cells)
2. Predominantly antibody deficiencies with low or absent vaccine responses
3. Diseases of immune dysregulation including haemophagocytic lymphohistiocytosis (HLH)
4. Congenital defects of phagocyte number, function or both. This should be evidenced by low
phagocytic204 numbers and/or abnormal DHR/NBT/phagocytosis/L selectin shedding, Cd11a,b,c or CD18, or abnormal migration or adhesion
5. Defects in intrinsic and innate immunity
6. Autoinflammatory disorders
7. Complement deficiencies with abnormal complement function
8. Testing under these criteria would also include young children with inflammatory bowel disease, defined as: bloody diarrhoea, severe failure to thrive and severe intestinal inflammation with histology consistent with chronic inflammatory intestinal pathology, of onset under 6 years of age OR
Suspected monogenic IBD diagnosed by a consultant paediatric gastroenterologist, gastroenterologist or immunologist
1. Infantile onset IBD less then 2 years onset; very early onset IBD (<6years of onset) with severe course (requiring biologics or surgery) or relevant comorbidities and extraintestinal manifestations 2. Testing may occasionally be appropriate outside these criteria following discussion in a specialist MDT, (for example paediatric or young adult IBD with documented severity criteria e.g. relevant family history, comorbidities and extraintestinal manifestations such as infection susceptibility).