Pathology EMQ template

Your Name: Radhini Karunaratne

Your Identifier:

Theme: Immunological Deficiencies

OPTION LIST

A	X-linked hyperIgM syndrome	I	IL12 receptor deficiency
B	Severe combined immunodeficiency	J	DiGeorge syndrome
C	Common variable immunodeficiency	K	Bare Lymphocyte Syndrome
D	IFN gamma deficiency	L	Good’s Syndrome
E	Brutons	M	Isolated deficiency of complement component.
F	IgA deficiency	N
G	Chronic Granulomatous Disease	O
H	Hyper IgM	P

For each scenario below, choose the most appropriate answer from the list above. Each option may be used once, more than once or not at all.

1. A 16 month old male infant presents to the GP with balanitis. On examination he was pale and thin and his height and weight were both below the third centile. Within the last year he had also presented with otitis media, upper respiratory tract infections and Haemophilus influenza pneumonia, despite being fully immunised. Immunological investigations revealed very low serum levels of all isotypes of immunoglobulin and the absence of circulating mature B lymphocytes.

2. A 3 month old infant presents to Outpatients with failure to thrive. In the last month he had presented to A and E after becoming’ chesty’ and was prescribes antibiotics. However he developed diarrhoea on starting the antibiotics which has still not settled despite stopping the antibiotics.  Immunological investigations revealed marked deficiencies of T cells AND /with a normal  B cell population. Microbiological tests following bronchoscopy was positive for Pneumocystis jirovecii.

3. A 2 year old child is admitted for the fifth time for a staphylococcal abscess ,which on  this occasion is on his right buttock. On further questioning the family history included three elder brothers who had died of infections under the age of 3 years, however his parents and sisters were well.  On examination he was pale, persistently pyrexic with bilateral axillary and inguinal lymphadenopathy and marked hepatosplenomegaly.

4.     A new born  neonate presents with respiratory distress, choking, feeding difficulties and frothing in the first few hours after birth .On examination he has a high forehead low set, abnormally folded ears cleft palate, small mouth and jaw. Immunological investigations revealed a T cell lymphopenia.

5.  A 28 year old West Indian Man is diagnosed with meningitis. X-rays of the skull and sinuses showed no abnormalities.  However  the total classical pathway haemolytic complement activity (CH50) and alternate pathway (AP50) were undetectable in his serum during recovery.

ANSWERS

1. E

2. B

3. G

4. J

5. M