Immunodeficiency Flashcards
What disease is characterized by the complete lack of mature B cells?
X-linked agammaglobulinemia
A defect in Bruton’s tyrosine kinase results in what disease?
X-linked agammaglobulinemia
What is used to treat X linked agammaglobulinemia?
Prophylactic Ig therapy
In common variable immunodeficiency, what cells are deficient?
Plasma cells. B cells cannot mature
Patients with an extraordinarily high amount of respiratory infections probably have this deficiency.
Isolated IgA deficiency
An x-linked mutation in the CD40 ligand results in what disease?
Hyper-IgM syndrome
Failure to develop the third and fourth pharyngeal pouches results in what disorder?
DiGeorge’s syndrome
Patients with DiGeorge Syndrome have significantly decreased amounts of what cell?
T cells
An infant presents to your office with thrush, repeated diaper rash, and general failure to thrive. What do you do to treat it?
Hematopoietic cell transplant
An infant presents to your office with thrush, repeated diaper rash, and general failure to thrive. What is the most common underlying defect?
Adenosine Deaminase (ADA)
What is the inheritance pattern of Wiscott Aldrich syndrome?
X linked
What disease is characterized by immunodeficiency with thrombocytopenia and eczema?
Wiscott-Aldrich syndrome
What is the treatment for Wiscott Aldrich Syndrome?
Hematopoietic stem cell transplant
What protein is deficient in Wiscott Aldrich syndrome and what cells are decreased?
WASP (Wiscott Aldrich Associated Protein)
T cells
This is a rare autosomal recessive disorder associated with neurological defects, albinism, and pyogenic infections.
Chidek higashi syndrome
