Flashcards in Primary Immunodeficiency (lecture) Deck (10):
Deficiency in B cells will result in susceptibility to what type of pathogen?
X-linked Agammaglobulinemia and X-linked Hyper-IgM Syndrome both result in deficiency of _-___
Male with extensive personal history of bacterial infections that began after 6 months of age and a family history of other males being similarly affected. Serology reveals a complete absence of any immunoglobulins. What is the gene that is responsible for his immunodeficiency?
This is XLA - the mutated gene is Bruton's tyrosine kinase (btk)
Male with extensive personal history of infections that began after 6 months of age and a family history of other males being similarly affected. Serology reveals an increase in IgM with absence of other Ig isotypes. Lymphnode histology reveals a lack of germinal centers. What is the gene that is responsible for his immunodeficiency?
This is X-linked Hyper-IgM Syndrome: It results from a mutation in the CD40 ligand gene (Xq26). The inability of B cells to link with CD40 ligand of T helper cells prevents Ig class switching from IgM to IgX.
What cytokine is released from Th1 cells that results in activation of macrophages?
2 y.o. male presents with recurrent severe viral, fungal, and bacterial infections. He is found to have B cells, but lacks T cells and NK cells. Family history reveals a brother that was born 3 years prior to him was similarly affected. What is the mutation responsible for this disease?
X-linked SCID is caused by a mutation of the common gamma chain of interleukin receptors. This results in an inability to stimulate NK and T cells.
What does is CATCH-22 in DiGeorge Syndrome?
22 is the chromosome mutation (22q11)
What is the inheritance pattern of DiGeorge?
Trick question - It is due to sporadic de novo mutations and is Autosomal Dominant
What is the underlying issue in Leukocyte Adhesion Deficiency Type 1?
Inability of leukocytes to adhere to endothelial cells' ICAM-1 receptor due to a mutation in leukocytes' LFA-1.