Immunodeficiencies - WLB Flashcards

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1
Q

Which immune deficiency is associated with anaphylaxis on exposure to blood products with IgA?

A

Selective IgA deficiency

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2
Q

Which immune deficiency is associated with coarse facial features, abscesses, eczema?

A

Autosomal Dominant Hyper IgE Syndrome (Job Syndrome)

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3
Q

Which immune deficiency is associated with thrombocytopenia, purpura, infections, and eczema?

A

Wiskott-Aldrich Syndrome

WAITER: Wiskott Aldrich Immunodeficiency Thrombocytopenia Eczema Recurrent infections

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4
Q

Which immune deficiency is associated with delayed separation of the umbilicus?

A

Leukocyte adhesion deficiency (type I)

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5
Q

Which immune deficiency is associated with neurologic defects, partial albinism, and recurrent infections?

A

Chediak-Higashi Syndrome

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6
Q

A young child has recurrent lung infections and granulomatous lesions. This is most likely due to what underlying defect in neutrophils?

A

Defect of NADPH oxidase in Chronic Granulomatous Disease

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7
Q

A child with an immune disorder has recurrent staphylococcal abscesses. It is found that the neutrophils fail to respond because the chemotactic stimuli are deficient. What is the most likely diagnosis?

A

Hyper IgE Syndrome (Job Syndrome)

STAT3 mutation => decreases Th17

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8
Q

Which immune deficiency is associated with neutrophils failing to respond to chemotactic stimuli?

A

Hyper IgE Syndrome (Job Syndrome)

OR

Leukocyte Adhesion Deficiency

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9
Q

Which immune deficiency is associated with adenosine deaminase deficiency?

A

Severe Combined Immunodeficiency

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10
Q

Which immune deficiency is associated with failure of endodermal development?

A

Thymic aplasia (DiGeorge Syndrome)

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11
Q

Which immune deficiency is associated a with defective tyrosine kinase gene?

A

X-linked (Bruton) Agammaglobulinemia

Defect in BTK gene

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12
Q

Which immune deficiency is associated with high levels of IgE and eosinophils?

A

Hyper IgE Syndrome (Job Syndrome)

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