Immune deficiencies

Question 1

Child with:
eczema
coarse facial features
recurrent RTIs
Cold abscesses
Candidiasis

Answer 1

Hyper-IgE

(Job/Buckley syndrome)

Question 2

Child with:
defective DNA repair
Increased lymphoma risk

Cerebellar ataxia, developmental delay, telangiectasia in eyes

Answer 2

Ataxia telangiectasia

Question 3

7 month old with:
eczema
recurrent infection
thrombocytopenia
Petechiae and bloody diarrhoea

Answer 3

Wiskott-aldrich syndrome:

‘WATER’
Wiskot
Aldrich
Thrombocytopenia
Eczema
Recurrent infection

Question 4

Inability to have normal response to EBV

Death to initial EBV or develop a secondary B cell lymphoma after EBV?

Answer 4

Duncan disease