Syndromes with associated immunodeficiency

Question 1

Which chromosomal deletion causes Di George syndrome?

Answer 1

22q11 deletion

Question 2

Which systems are affected in Di George syndrome?

Answer 2

Cardiac (aortic arch + conotruncal anomalies)
Dysmorphism
Immunology
Endocrine

Question 3

What is the immunodeficiency associated with Di George syndrome?

Answer 3

Partial T cell defects 2 thymic hypoplasia

Question 4

How is Wiscott-Aldrich syndrome inherited?

Answer 4

X-linked

Question 5

What is the classic triad of WAS?

Answer 5

Eczema + mixed immunodeficiency + microcytic thrombocytopenia

Question 6

What is the gene mutation with WAS?

Answer 6

WASp: actin cytoskeleton co-ordinator in hematopoietic cells

Question 7

What is the genetic anomaly which causes ataxia-telangiectasia?

Answer 7

ATM gene: encodes for ATM protein which repairs DNA breaks

Question 8

What are 6 features of ataxia-telangiectasia?

Answer 8

Progressive cerebellar ataxia + chroeoathetosis
Oculocutaneous telangiectasia (>2 yrs)
Recurrent sinopulmonary infections
Immunodeficiency
Lymphoid malignancy
Growth restriction

Question 9

What does IPEX stand for?

Answer 9

Immunodysregulation
Polyendocrinopathy
Enteritis (intractable diarrhoea in infancy, TPN dep)

Question 10

What are the clinical features of Chediak-Higashi syndrome?

Answer 10

Immunodeficiency
Neurological signs (weakness, ataxia, peripheral neuropathy)
Hypopigmentation (oculocutaneous albinism)

Question 11

Which gene mutation causes IPEX?

Answer 11

FOXP3