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  #1  
Old 04-02-2013
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Immunology Immunodeficiency problem

2 year old boy has a history of recurrent bacterial and fungal infections. Serum protein electrophoresis shows a flat gamma globulin region. Further testing shows increased concentrations of dATP in white blood cells. What is the most likely diagnosis?

A. Lesch - Nyhan syndrome
B. Oroticaciduria
C. Bruton's agammaglobulinemia
D. Purine - nucleoside phosphorylase deficiency
E. Adenosine deaminase deficiency
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  #2  
Old 04-02-2013
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E) Adenosine Deaminase Deficiency

This is a rare autosomal recessive disease.

Deficiency of this enzyme causes accumulation of deoxyadenosine, which inhibits ribonucleotide reductase and halts DNA synthesis.

Both T and B cells are severely affected because they are very active mitotically
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  #3  
Old 04-02-2013
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E

One of the causes of SCID
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  #4  
Old 04-03-2013
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I will go with E


.lesch Nyhan synd would be hyperurecemia and some psychiatric symptoms
.Orotic aciduria would be increase orotic acid and megaloblastic anemia (which does not respond to folate or B12
.for brutons they hav not mentioned anything about B cell
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  #5  
Old 04-03-2013
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Correct Answer Correct answer is E

The correct answer is Adenosine deaminase deficiency. Adenosine deaminase deficiency leads to extremely large accumulation of dATP; which inhibits ribonucleotide reductance.
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