B Cell Immune Deficiency Disorders

Question 1

What is the defect in X-linked Bruton’s Agammaglobulinemia?

Answer 1

Defect in Bruton Tyrosine Kinase (BTK) which causes no B cell maturation

Question 2

What is the mode of inheritance of X-Linked Bruton’s Agammaglobulinemia?

Answer 2

X-linked Recessive

increased in boys

Question 3

How does X-Linked Bruton’s Agammaglobulinemia present?

Answer 3

Recurrent bacterial infections after 6 mo. (due to decreased maternal IgG in the system)

Question 4

What are lab findings you would see in X-Linked Bruton’s Agammaglobulinemia?

Answer 4

Normal pro-B (precursors)
Decreased # B cells (decreased maturation)
Decreased immunoglobulins (all classes)

Question 5

What is the defect in Selective IgA Deficiency?

Answer 5

Unknown.

It is the most common primary immunodeficiency.

Question 6

How does Selective IgA Deficiency present?

Answer 6

Asymptomatic mostly.

Possible sinopulmonary infections, GI infections, Autoimmune disease, and Anaphylaxis to blood products with IgA

Question 7

What are lab findings you would see in Selective IgA Deficiency?

Answer 7

IgA < 7 mg/dl
Normal IgG, IgM, IgG Vaccine titers
Presence of Heterophile Abs (causes false + B-HcG)

Question 8

What is the defect in Common Variable Immunodeficiency (CVID)?

Answer 8

Defect in B cell maturation d/t many causes

Question 9

How does Common Variable Immunodeficiency (CVID) present?

Answer 9

Acquired in 20s-30s

Increased risk of autoimmune disease, lymphoma, sinopulmonary infections

Question 10

What are lab findings you would see in Common Variable Immunodeficiency (CVID)

Answer 10

Normal # B cells

Decreased plasma cells and Immunoglobulin