What X-linked recessive disease is characterized by the absence of mature B cells?

Prepare for the AAB Medical Technologist (MT) Generalist Exam with flashcards and multiple choice questions. Each question includes hints and explanations to boost your understanding. Get exam-ready now!

X-linked agammaglobulinemia is characterized by the absence of mature B cells due to a mutation in the BTK gene, which is critical for B cell development. This disease results in a profound deficiency of antibodies because, without mature B cells, the body cannot produce immunoglobulins effectively. Patients with this condition are highly susceptible to infections, particularly those caused by encapsulated bacteria.

The other conditions listed do not specifically exhibit the absence of mature B cells or are not solely linked to X-linked recessive inheritance. For example, severe combined immunodeficiency is a broader category affecting multiple aspects of the immune system and can involve T cells and B cells but is not exclusively linked to the absence of mature B cells. Common variable immunodeficiency affects both B cell numbers and function but is not primarily characterized by an absence of B cells nor is it X-linked. Wiskott-Aldrich syndrome is an X-linked condition but is defined by a triad of eczema, thrombocytopenia, and recurrent infections, and does not specifically involve the absence of mature B cells alone. Thus, X-linked agammaglobulinemia is distinctive for this characteristic feature.

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