1. what is the cause of hereditary angioedema?
    C1 esterase inhibitor deficiency
  2. in SCID, what is there a deficiency of?
    • absent B and T cells
    • so look at lymphocyte subsets - see if both absent
  3. when does SCID present?
    first 6 months of life - unusual infection and severe FTT
  4. which infections commonly occur in SCID?
    • oral candida
    • PCP
    • chronic diarrhoea
    • ear infections
  5. what is the inheritance of SCID?
  6. what is Rx of SCID?
    bone marrow transplantation
  7. what is the most common cause of Ig deficiency?
    x-linked agammaglobulinaemia: failure of B cell development and Ig production.
  8. when does x-linked gamma present?
    • first 2yrs life
    • severe bacterial infections - sinopulmonary
  9. which gene causes x-linked agammaglob?
    bruton tyrosine kinase
  10. what is ataxia telangiectasia? inheritance?
    • auto recessive
    • affects cerebellum - ataxia
    • get immune system weak - respiratory disorder and cancer
  11. what is the gene in ataxia telangiectasia responsible for?
    DNA repair gene
  12. what is the triad in wiskott-aldrich syndrome?
    • immunodeficiency
    • thrombocytopenia - so may need splenectomy
    • eczema
  13. what is the inheritance of wiskott-aldrich syndrome?
  14. what is curative for wiskott-aldrich syndrome?
    BM transplant
  15. what causes DiGeorge syndrome - maldevelopment of…
    • 5th branchial arch causing heart
    • Cardiac
    • Abnormal facies
    • Thymus aplasia
    • Cleft palate
    • Hypocalcaemia (due to low PTH)
  16. what are the causes of secondary immunodeficiency?
    • HIV
    • immunosuppression drugs - chemotherapy, steroids,
    • cancer
    • malnutrition
    • nephrotic syndrome
    • splenectomy
    • bacterial and viral infections
  17. which tests are used to assess immune function in children?
    • FBC
    • lymphocyte subsets
    • Ig
    • specific Ig
    • Neutrophils NBT - chronic granulomatous disease
    • adhesion molecules
    • complement
    • genes
  18. which 2 types of inheritance is most primary immunodeficiency?
    x-linked or AR
  19. what needs to be asked in history of immunodef?
    • FH of consanguinity
    • unexplained death - boys
  20. what are the clinical features in most primary immunodef?
    • infections
    • protein losing enteropathy
    • FTT
  21. what are the 3 main arms of Rx of primary immunodef - other than gene therapy!
    • antibiotic prophylaxis - PCP co-trimoxazole
    • antibiotic therapy when infection happens
    • Ig replacement if defective antibody production or function
    • BM transplant in severe immunodef
  22. which primary immunodef leads to chronic bacterial and fungal infections?
    • chronic granulomatous disease
    • phagocytic cells fail to produce superoxide after ingestion of microorganisms
    • need prophylactic abx and INF gamma
  23. what is delayed separation of the umbilical cord a classical features of?
    • leucocyte adhesion deficiency
    • also get delayed wound healing, chronic skill ulcers, deep seated infection (remember the WBC cant get there!!)
  24. which primary immunodef would benefit greatly from prophylactic antibiotics?
    chronic granulomatous disease
  25. which 1ry immunodef has defect in the bruton tyrosine kinase gene?
    x linked agammaglobulinaemia
  26. how may complement deficiency present?
    recurrent meningitis
  27. with a viral infection - which cell has a rapid response?
    natural killer cell response
  28. which infections do cytotoxic T cells attack?
    viral infections
  29. what are the main causes of secondary immunodeficiency in children?
    • immunosuppressive therapy eg cytotoxic drugs and steroids
    • HIV
    • measles
  30. what is the consequences of cytotoxic drugs?
    • eg in ALL
    • chemo is very immunosuppressive as BM suppression and neutropenia
    • if febrile neutropenia then at risk of potentially fatal bacterial and fungal infections
  31. why would a child be taking high dose steroids?
    nephrotic syndrome
  32. what are potential problems with taking steroids?
    disseminated chickenpox
  33. what are children who have had organ transplants at risk of?
    CMV infection
  34. what are the ways of HIV transmission to children?v
    • vertical transmission
    • blood products
  35. what are the 3 main routes of vertical transmission?
    • intrauterine
    • intrapartum
    • breast feeding
  36. when do children have their mothers HIV antibodies until?
    15-18 months, then disappear
  37. how is HIV diagnosed in children - what test?
    • HIV viral culture: gold standard, but not widely available
    • PCR for viral genome
  38. what is the incubation of HIV in children cf to adults?
    shorter in perinatally infected children
  39. what % of the CD4 count do you need for moderate immunosupp?
  40. what % of CD4 count gives severe immunosupp?
  41. what are symptoms of mild HIV?
    • lymphadenopathy
    • hepatosplenomegaly
    • parotitis
  42. what are symptoms of moderate HIV?
    • severe bacterial infection
    • chronic diarrhoea
    • candida
    • lymphocytic interstitial pneumonitis
  43. what are symptoms of severe HIV ie AIDS?
    • wasting as FTT
    • opportunistic infection eg PCP
    • encephalopathy
    • severe bacterial infection
    • malignancy-rare
  44. what are the neurological complications of AIDS?
    • encephalopathy
    • seizures
    • motor defect
  45. what are the GI complication of AIDS?
    • anorexia
    • nausea
    • diarrhoea
    • wt loss
  46. what are the skin condition in AIDS
    kaposis sarcoma
  47. what is management of paediatric HIV?
    • co-trimoxazole PCP prophylaxis
    • primary immunisation course should be given
    • BCG not recommended
    • defer MMR if severely immunosupp
    • antiretroviral Rx if symptomatic or CD4<15% - RT inhibitor and protease inhibitors
  48. how is paediatric HIV prevented?
    • antenatal screening for HIV
    • zidovudine during pregnancy, delivery and to neonate for 6 weeks
    • reduces vertical transmission of HIV1
    • C/S unless low viral load can have vaginal delivery
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