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
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)
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
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