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7066 Biochemistry

A 3-month-old girl was referred for recurrent fever, pneumonia, diarrhea, chronic dermatitis, failure to thrive, and motor retardation. The patient was the daughter of consanguineous parents and had a female sibling who had died due to recurrent infections. She suffered from oral thrush and a diffuse brownish colored macular rash on the trunk. Chest auscultation revealed bilateral crackles at the lower zones. Chest X-ray, indicated the absence of thymus shadow; a para-cardiac infiltration and an inferolateral squaring scapulae were demonstrated.Laboratory tests revealed mild anemia with profound lymphocytopenia, and hypogammaglobulinemia. adenosine deaminase (ADA) enzyme activities were low.What is the diagnosis?

AGout
BDwarfism
CMental retardation
DImmunodeficiency
Biochemistry
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7073 Biochemistry

Magnesium

AIs essential for efficient secretion and peripheral action of PTH
BIs essential for efficient secretion and peripheral action of calcitonin
CIs cofactor for vitamin D in bone
DCompetitively occupies calcium slots in bone
Biochemistry
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