P-CID patient discussion form

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

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

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

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

Evidence of T cell deficiency CD4 counts CD8 counts %  T cells % naive CD4 T cells PHA response HLA DR expression Other proliferative responses Other investigations

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

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

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

Bone marrow/Histology Bone marrow Lymph node Skin Liver Gut Other

Other immunology laboratory Autoantibodies Cellular analysis Other

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

Previous treatment Antibiotics Immunoglobulins Plans for HSCT – Donor availability

Open questions