Primary B-Cell Immunodeficiencies Flashcards Preview

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Flashcards in Primary B-Cell Immunodeficiencies Deck (8)
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1

Which immunodeficiency features a mutation in BTK? What is this enzyme? What's it's function?

X-Linked agammaglobulinemia. It plays a role in B-cell maturation.

2

How is X-Linked Agammaglobulinemia diagnosed?

Flow shows no B-cells and there will be no adequate titers to immunizations. Ig will be low. There will be a history of recurrent sinopulmonary infections.

3

How is CVID similar to X-linked agammaglobulinemia? How can you tell them apart?

Similar clinical presentation due to lack of Ig (sinopulmonary infections, enterovirus, giardia.) Different in that B cells are present, but they just won't differentiate into plasma cells. CVID is also associated with other features (see separate flashcard.)

4

CVID presents in similar fashion to X-linked agammaglobulinemia (Bruton's) but has several other possible features. Discuss.

Non-caseating granulomas (sarcoid-like)
Sprue-like illness
Autoimmune disease
Lymphomas

5

A 13 year old has PJP infection, immunodeficiency, but does not have HIV/AIDS. He has detectable IgM. Which immunodeficiency might he have?

X-Linked Hyper IgM Syndrome

6

What is the defect causing Hyper-IgM Syndrome?

CD40L defect

7

True or False: An infant diagnosed with transient hypogammaglobulinemia of infancy cannot mount an adequate immunization response.

False. They may have low titers but they do develop proper antibodies to the vaccinations.

8

At what age should you expect a child with transient hypogammaglobulinemia to develop a more normal total immunoglobulin amount?

By 4 years, this condition usually resolves.