Name: Nehal Parmar

Candidate number:

Theme: Phagocyte-defect Immunodeficiency diseases

OPTION LIST

A	Chediak-Higashi syndrome	I	Neutrophil-specific granule deficiency
B	Chronic Granulomatous disease	J
C	Cyclical neutropenia	K
D	Interferon-gamma – Interleukin 12 axis defect	L
E	Leukocyte Adhesion deficiency	M
F	Myeloperoxidase deficiency	N
G	Severe congenital neutropenia	O
H	Shwachman-Diamond syndrome	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. An afebrile boy presents with gingivitis, apthous ulcers and signs of an early pneumonia revealed on MRI. There is a history of recurrent infections with catalase-positive organisms (Staphylococcus aureus, aspergillous) in lungs and soft tissues. Periodontitis is not present.

2. Diabetic patient presents with disseminated candidiasis.

3. A four year old child presents with elevated neutrophil count of twice the normal level. He has a history of recurrent infections with Gram-negative enteric bacteria and Staphylococcus aureus, during which infected foci heal slowly. His mother notes a delayed separation of the umbilical cord. Periodontitis and early tooth decay was present. A genetic defect in CD18 was found.

4. Patient presents with severe peripheral neuropathy, learning disability, albinism, peridontitis, easy bruising, and neutropenia. There is a history of recurrent beta-haemolytic Streptococcus and Staphyloccus Aureus infection with tissue infiltration of non-malignant macrophages and CD8+ T cells.

5. Infant presents with disseminated atypical mycobacterial disease and failure to form granulomas. The infant has not yet received the BCG vaccination.

ANSWERS

1. B

2. F

3. E

4. A

5. D