Di George syndrome results from a defect in?

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Pediatric Immune Disorder Test Questions Questions

Question 1 of 5

Di George syndrome results from a defect in?

Correct Answer: C

Rationale: DiGeorge syndrome results from defective thymic development due to 22q11.2 deletion, leading to T-cell deficiency.

Question 2 of 5

Atopic people produce an increased amount of IgE. Of the following, which is the most likely explanation for the increased amount of IgE?

Correct Answer: D

Rationale: IL-4 from Th2 cells drives B cells to produce IgE, a key factor in atopy and allergic responses.

Question 3 of 5

The most likely diagnosis in the patient described in Question 2 is

Correct Answer: C

Rationale: Chronic granulomatous disease (CGD) is indicated by recurrent infections with catalase-positive organisms like Staphylococcus aureus, including lymphadenitis and liver abscesses, due to defective phagocyte function. Bruton agammaglobulinemia involves B-cell defects, AIDS is a T-cell disorder, and Kostmann disease is severe congenital neutropenia, none of which fit this presentation as well as CGD.

Question 4 of 5

Matching: Immunodeficiency - Chromosome 22q12

Correct Answer: A

Rationale: DiGeorge syndrome is caused by a 22q11.2 deletion (often written as 22q12 in shorthand), affecting thymic development. No other listed condition matches this chromosomal defect.

Question 5 of 5

The initial screening laboratory evaluation of a child with recurrent infections for possible immunodeficiency includes all of the following EXCEPT

Correct Answer: D

Rationale: The NBT test is a specific diagnostic test for CGD, not part of initial screening. CBC, lymphocyte count, and immunoglobulin levels are broad screening tools for immunodeficiency.

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