P-CID patient discussion form

1. P-CID patient discussion form

2. Patient summary • y/o boy/girl with: • Infection • Immune dysregulation • T cell deficiency • Consanguinity: • Family history:

3. Infection history • Bacteria (pathogen, site, disease evolution) • Virus • Fungi • Parasites • Tolerance of live vaccinations • Include age at clinical manifestation

4. Immune dyregulation history • Skin • Gut • Lung • Lymphoproliferation • Granuloma • IgE • Other • Include age at clinical presentation

5. Aspects of syndromal disease • Neurodevelopmental delay • Microcephaly • Ataxia • Muscular weakness • Ectodermal dysplasia • Short stature • Facial dysmorphy • Other

6. Evidence of T cell deficiency • CD4 counts • CD8 counts • % g/d T cells • % naive CD4 T cells • PHA response • HLA DR expression • Other proliferative responses • Other investigations

7. Other standard immunology • IgG, A, M, E • Specific antibodies (proteins, polysaccharides) • B cell counts, B cell differentiation • NK cell counts • NKT cells

8. Other general laboratory • Inflammation • Hematology • Liver • Metabolic • Endocrine (if relevant)

9. Imaging • X-ray (lung ) • CT (lung, sinus) • MRI • PET-Scan • Lung function

10. Bone marrow/Histology • Bone marrow • Lymph node • Skin • Liver • Gut • Other

11. Other immunology laboratory • Autoantibodies • Cellular analysis • Other

12. Genetic investigations • Genes investigated • Protein expression • Functionnal studies • Age at genetic diagnosis

13. Previous treatment • Antibiotics • Immunoglobulins • Plans for HSCT • Donor availability

14. Open questions