Immunodeficiency Flashcards
CD40L gene is associated with which immune deficiency?
Hyper IgM syndrome
B cells that are unable to undergo class-switching?
Hyper IgM
A mutation in the common gamma chain is associated with which immune deficiency?
X-linked SCID
common gamma chain aka IL-2 receptor subunit gamma
Lack of MHC II expression on antigen presenting cells, what inheritance pattern is this condition?
Bare lymphocyte syndrome
Autosomal recessive
Granulocyte precursors are unable to form granules secondary to mitochondrial adenylate kinase 2 malfunction
Reticular dysgenesis - a form of SCID
A defective enzyme which leads to the accumulation of dATP which in turn inhibits ribonucleotide reductase.
Adenosine deaminase deficiency - second most common form of SCID
(The enzyme is adenoise deaminase. The dATP inhibits ribonucleotide reductase - overall inhibits lymphocyte proliferation)
Autosomal dominant microdeletion condition
DiGeorge syndrome (22q11)
X-linked disease with thrombocytopenia, eczema and inability of T cells to become polarised
Wiskott-Aldrich syndrome
WASp gene
Complete lack of B cells and low levels of all antibody classes
X-linked agammaglobulinaemia (Bruton’s)
This molecule includes C2, C4 and B factor as well as other cytokines and heat shock proteins.
MHC III
What type of inheritance is present in Adenosine deaminase deficiency?
Autosomal recessive
What type of inheritance is present in Bare lymphocyte syndrome?
Autosomal recessive
What type of inheritance is present in the most common form of SCID?
X-linked
What type of inheritance is present in Bruton’s agammaglobulinaemia?
X-linked
What type of inheritance is present in DiGeorge syndrome?
Autosomal dominant
