Immunodeficiencies

Question 1

12 year old girl
Decreased pigmentation of skin and eyes
History of severe bacterial and viral infection
Bleeding abnormalities

Answer 1

Chediak-Higashi syndrome

Decreased phagocytosis

Question 2

1 year old boy 
Well until 6 months 
Recurrent otitis media 
Severe pneumonia at 8 months 
Presents with seizure, reduced GCS and high fever 
Globally reduced tone

Answer 2

Brunton’s agammaglobunemia

Primary immunodeficiency with absence of IgG

Question 3

28 year old man
Severe pneumonia, not responding to standard therapy
Ct shows multiple small gas filled cavities in both lung apices and bilateral ground glass opacification
Improves with high dose co-trimoxazole

Answer 3

HIV infection

Presenting with pneumocystis carnii pulmonary infection