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