Matching: Complement deficiency - Fatal meningococcal infection in males

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Question 1 of 5

Matching: Complement deficiency - Fatal meningococcal infection in males

Correct Answer: D

Rationale: Properdin deficiency, an X-linked condition affecting males, impairs the alternative complement pathway, increasing susceptibility to fatal meningococcal infections. Terminal complement deficiencies (C5-9) also cause neisserial infections but are not sex-linked.

Question 2 of 5

Which of the following is not a prominent feature of Wiskott-Aldrich syndrome?

Correct Answer: D

Rationale: Wiskott-Aldrich syndrome (WAS) features eczema, thrombocytopenia, and infections, but leukopenia is not typical; lymphocyte counts may be normal or reduced, not a prominent feature.

Question 3 of 5

A 6-month-old presents with recurrent cellulitis and bacteremias due to Staphylococcus aureus. The white blood cell count is 2500 with 5% neutrophils, 10% eosinophils, 35% monocytes, and 50% lymphocytes. The platelet count is 650,000. A brother and a female cousin died at the age of 18 months and 2 years, respectively. The most likely diagnosis is

Correct Answer: C

Rationale: Kostmann disease (severe congenital neutropenia) fits with persistent neutropenia, recurrent Staphylococcus aureus infections, and a family history suggesting autosomal recessive inheritance.

Question 4 of 5

A 15-month-old male child presented with thrombocytopenic purpura, atopic dermatitis, and recurrent infections caused by cytomegalovirus and P.jiroveci. Immunoglobulin assay revealed elevated IgE and IgA with decreased IgM levels. Of the following, the MOST likely diagnosis is

Correct Answer: A

Rationale: Wiskott-Aldrich syndrome is characterized by eczema, thrombocytopenia, and recurrent infections with abnormal immunoglobulin levels (elevated IgE/IgA, low IgM).

Question 5 of 5

Light microscopy of neutrophils for the presence of giant granules can help to diagnose

Correct Answer: B

Rationale: Giant granules in neutrophils are a hallmark of Chédiak-Higashi syndrome, visible under light microscopy.

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