1 / 14

Comprehensive Evaluation of Immune Dysregulation in Pediatric Patient

This case study delves into a y/o boy/girl with infections and immune dysregulation, including T cell deficiency. Factors such as consanguinity, family history of infections, and tolerance of live vaccinations are explored. Clinical manifestations of immune dysregulation in the skin, gut, lung, lymphoproliferation, and granuloma formation are discussed. Syndromal disease aspects like neurodevelopmental delay, microcephaly, and other abnormalities are investigated. The evidence of T cell deficiency includes CD4 and CD8 counts, T cell percentages, and other investigative procedures. Various immunological, genetic, and previous treatment aspects are covered extensively.

monita
Download Presentation

Comprehensive Evaluation of Immune Dysregulation in Pediatric Patient

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  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

More Related