Immunology and Allergy Flashcards

1
Q

What is Nijmegen breakage syndrome (NBS)

  • mutation
  • phenotype
  • infections susceptible to
A
  • Mutation in nibrin (NBN) gene on Ch 8q21) ; Nibrin = DNA repair protein
  • Progressive, severe microcephaly, IUGR, short stature, immunodeficiency, ataxia and nystagmus
  • recurrent sinopulmonary infections + susceptible to lymphoma
    Radiation hypersenitivity due to reduced DNA repair mechanisms
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2
Q

Describe CD40 ligand deficiency

- infections susceptible to

A
  • Hyper IgM
  • cryptosporidium infection -> chronic infection leads to cholangiocarcinoma
  • increased risk of malignancy (peripheral neuroectodermal tumours of GIT) - (as with all immunodeficiencies)
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3
Q

X-Linked lymphoproliferative disease (XLP)

  • mutation
  • infection susceptible to
A
  • mutation in SAP gene = signalling lymphocyte activation molecule (SLAM) associated protein
  • well until infection with EBV –> Fulminant infection in preschool years or lymphoma and dysgamaglobulinaemia
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4
Q

What is XMEN?

A

= X-linked immunodeficiency, magnesium defect, EBV infection and neoplasia

  • -> EVB related lymphoma but slow chronic onset
  • -> mutation of gene encoding magnesium transport
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