SYNDROME IN PAED Flashcards
1
Q
WHAT IS DI GEORGE SYNDROME ?
A
primary immunodeficiency disorder caused by T-cell deficiency and dysfunction.
2
Q
ETIOLOGY OF DIGEORGE SYNDROME ?
A
deletion of a section of chromosome 22).
autosomal dominant condition
3
Q
x
A
x
4
Q
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A
x
5
Q
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A
x
6
Q
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A
x
7
Q
clinical features of di-george syndrome?
A
congenital heart defects,
abnormal facies- can include cleft lip and or palate,
congenital absence of the thymus gland - t cell deficiency
hypocalcemia / hypoparathyroidism hypocalcaemic tetany
8
Q
due to t cell immunodeficiency in di-george what type of infections are likely contracted ?
A
unusual viral and fungal infections in such as bronchiolitis,
diarrhoea,
oral candidiasis
Pneumocystis jiroveci pneumonia
