SCID Flashcards
1
Q
what
A
absent or dysfunctioning T and B cells
severe combined immunodeficiency
2
Q
presentation
A
will present in first few months of life with
- persistent diarrhoea
- FTT
- opportunistic infections
- unwell after live vaccinations
3
Q
cause
A
> 50% due to mutations in common gamma chain on Chr X
which codes for IL receptors on T and B cells
X-linked recessive
4
Q
Omenn syndrome
A
rare cause of SCID
mutation of recombination activating gene - important proteins in T and B cells
5
Q
Omenn syndrome - inheritance
A
autosomal recessive
6
Q
Omenn syndrome - what jappens
A
dysregulated cells attack tissues in fetus or neonate
7
Q
Omenn syndrome - features
A
erythroderma alopecia diarrhoea FTT lymphadenopathy hepatosplenomegaly
8
Q
Mx
A
Ig therapy
stem cell transplant
