Patient History: A 6-month-old baby has
repeatedly visited their GP and hospital with a series of
infections. Most recently, they have had severe otitis media (ear
infection) followed by candidiasis (fungal infection) in their
mouth and respiratory tract, which has required hospitalisation.
They are initially treated with anti-fungal medication and
intravenous immunoglobulin (IVIG) but an immunodeficiency is
suspected. Molecular analysis of T cell receptor excision circles
(TRECs) shows that they have very low numbers of T cells. Flow
cytometry analysis shows that they have B cells, but they are
dysfunctional as ELISA assays have shown that their serum IgG level
is abnormally low.
Diagnosis: The patient is diagnosed with
X-linked severe combined immuno-deficiency (SCID) due to a mutation
in the common g chain cytokine receptor subunit. They will receive
a cord blood transplant from the blood bank.
Given this person’s symptoms and diagnosis, please answer the
following questions:
Patient History: A 6-month-old baby has repeatedly visited their GP and hospital with a series of infections. Most recen
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