Adaptive Immunity Deficiencies Flashcards
what is the most common SCID
X linked SCID = 45%
what is the mut in x linked SCID
mut of common gamma chain on chr X (only in boys)
pathology of x linked SCID
mut of gamma chain -> cant respond to cytokines -> early arrest of T and NK cell development and prod of immature B cells
blood findings in X linked SCID
v low T and NK cells, normal or raised B cells, v low Ig
path of ADA SCID
= adenosine deaminase def -> no lymphocyte dev
who presents with ADA SCID
babies unwell at 3 mo
blood findings in ADA SCID
v low T/NK cells
V low B cells
v low Ig
path of brutons X linked hyperglobinaemia
brutons tyrosine kinase def -> pre B cels cant mature
blood findings in brutons X linked hyperglobinaemia
normal T cells
No B cells
No Ig
what causes di george syndrome
22q 11.2 del syndro -> defective development of pharyngeal pouch
sympto of di george syndro
cardiac and facial abn, thymic aplasia (-> low T cells), cleft palate, hypocal, hypopara
how does di george syndro change with age
immune func improves with age as cytokines drive homeostatic proliferation
path of bare lymphocyte syndro TII
absent expression of MHCII ->
v low CD4Th cells
normal CD8 T cells and B cells
what are the Ig findings in bare lymphocyte syndro TII
normal IgM v low IgG and IgA - no class switching
what is the inheritance of Hyper IgM syndro
X linked
