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Patient with recurrent sinopulmonary and GI infections as well as atopic and autoimmune disease who develops anaphylaxis during blood transfusion:

a) Bruton agammaglobulinemia (X-linked agammaglobulinemia)
b) Common variable immunodeficiency (CVID)
c) DiGeorge syndrome
d) Severe combined immunodeficiency (SCID)

User MatteoSp
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Final answer:

The patient most likely has common variable immunodeficiency (CVID), given their symptoms and anaphylaxis during blood transfusion. CVID presents with symptomatic immunodeficiency including recurrent infections, autoimmune disease, and atopy. It is also associated with anaphylaxis to blood transfusions due to anti-IgA antibodies in some patients.

Step-by-step explanation:

Inherited Immunodeficiencies and Anaphylaxis during Blood Transfusion

The patient described has recurrent sinopulmonary and gastrointestinal infections, as well as atopic and autoimmune diseases. They developed anaphylaxis during a blood transfusion, which is particularly suggestive of an immunodeficiency disorder. Inherited immunodeficiencies can lead to various degrees of susceptibility to infections. Among those, severe combined immunodeficiency (SCID) is one of the most serious, as it affects both B cell and T cell arms of the adaptive immune response, which causes impaired T-cell dependent antibody responses and cell-mediated immune responses.

Considering the types of infections and autoimmune manifestations described, along with the anaphylactic reaction to blood transfusion, common variable immunodeficiency (CVID) might be the most fitting diagnosis from the provided options. CVID presents with defects in B cell differentiation which can lead to recurrent infections, autoimmune disease, and atopy. Anaphylaxis in the setting of a blood transfusion may occur due to the presence of specific anti-IgA antibodies in some CVID patients, who often have undetectable levels of serum IgA.

The other options, such as Bruton agammaglobulinemia (X-linked agammaglobulinemia) or SCID, usually present earlier in life with more severe and often life-threatening opportunistic infections. DiGeorge syndrome presents with thymic aplasia and consequent T-cell deficiency, which can also lead to severe infections but is less commonly associated with the reported symptoms and complications of anaphylaxis from blood transfusion.

User Anu
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