Primary B-Cell Immunodeficiencies Flashcards Preview

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


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.


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.)


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


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


What is the defect causing Hyper-IgM Syndrome?

CD40L defect


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.


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.