Immune DIAL Flashcards
What are three of the most common immunodeficiency diseases caused by defects in lymphocyte development?
- ) Severe Combined Immunodeficiency (SCID)
- ) X-linked Agammaglobulinemia
- ) DiGeorge syndrome
What are two types of SCID?
X-linked SCID
Autosomal recessive SCID
What are the generic signs of SCID?
Defects in cell and antibody-mediated immunity
Early in life (typically thrush; viral; fungal)
Treatment for SCIDs?
Hematopoietic stem cell or bone marrow transplantation
What is the more common SCID?
X-linked SCIDs
What is the defect in X-linked SCID?
Defect in common gamma-chain of cytokine receptors, a signaling subunit of multiple cytokine receptors
Status of lymphocytes in X-linked SCID?
T cells: deficient
B cells: variable
NK cells: deficient
Why is antibody production impaired in SCIDs?
Lack of T cell help for responses to protein antigens
What is the deficiency in autosomal recessive SCID?
Deficiency in adenosine deaminase (ADA)
What does deficiency in ADA cause?
Accumulation of deoxyadenosine and its derivatives (underdeveloped tonsils and such)
What causes X-linked Agammaglobulinemia?
Defect in Bruton tyrosine kinase (BTK)
What is BTK?
A signaling protein required for pre-B cell receptor to trigger Ig light chain gene arrangements
What is the end result of Agammaglobulinemia?
Severe deficiency of B cells and all antibody isotypes
Treatment for Agammaglobulinemia?
IVIG
When does Agammaglobulinemia appear?
6 months after birth once maternal IgG levels diminish
