X-linked Agammaglobulinemia and Common Variable Immunodeficiency

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What is the main reason behind the lack of B-cells in X-linked agammaglobulinemia (Bruton’s)?

Inability of pro-B cells to differentiate into pre-B cells due to tyrosine kinase deficiency

Which condition is characterized by hypogammaglobulinemia, reduced lymphocytes, and decreased T-cell activity?

Common variable immunodeficiency

What is a common symptom associated with Isolated IgA deficiency?

Otitis media

Why can a celiac test result show a false negative in a patient with IgA deficiency?

Low IgA levels in blood serum affect the test accuracy

What is the primary biological defect in Hyper IgM syndrome?

Deficiency or lack of function of CD40L

Which immune deficiency can result in life-threatening anaphylaxis post blood transfusion due to recognition of transfused IgA as foreign?

Isolated IgA deficiency

Which of the following is true about hyper IgM syndrome?

It is an autosomal recessive disorder that primarily affects males

What is the prognosis for hyper IgM syndrome?

Poor prognosis

DiGeorge syndrome is also known as:

22q11 deletion syndrome

What is the primary biological cause of DiGeorge syndrome?

Abnormal development of the 3rd and 4th pharyngeal pouches, leading to a small thymus and T-cell deficiency

What is the primary immunodeficiency associated with severe combined immunodeficiency (SCID)?

Mutation in cytokine receptors or the RAG gene, leading to a lack of T lymphocytes and NK cells

Which of the following is an example of an innate immunodeficiency?

Hereditary angioedema

Learn about X-linked agammaglobulinemia (Bruton’s) which mainly affects males, leading to underdeveloped B-cells and reduced antibody production. Explore the treatment with IV immunoglobulins and the uncommon Common Variable Immunodeficiency characterized by hypogammaglobulinemia and reduced lymphocytes.

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