11-Failures of the Body's Defenses Flashcards
What happens in genetic variation?
A pathogen changes its surface molecules and escape recognition by Ab’s
What is a pandemic?
world wide infection as a result from antigenic shift
What is an epidemic?
A local spread of infection
What type of mutations cause antigenic drift?
Point mutations
What type of change of viral genomes cause antigenic shift?
When they rearrange their segmented genomes. This is bad.
How does trypanosomes evade Ab response?
They rearrange their surface Ag’s so Ab’s can’t bind to them
How do herpes evade the immune system?
They enter a dormant/latent stage that Tc cells can’t recognize
Why are there so many immunodeficiency diseases in males?
It’s a scheme by women to kill off all men. Also X linked.
Chronic Granulomatous Disease- cause
Mutation in NADPH Oxidase –> deficiency
Chronic Granulomatous Disease- clinical Sx
recurrent infections with catalase + bacteria, granulomas
Leukocyte-Adhesion Deficiency- cause
Absence of CD18 –> no binding of leukocytes to come into infected tissues
Leukocyte-Adhesion Deficiency- clinical Sx
recurrent infections, can’t form pus, omphalitis
Chediak-Higashi Syndrome- cause
granule defect in PMN’s –> phagocytosed material cannot be delivered to lysosomes
Chediak-Higashi Syndrome- clinical Sx
Recurrent infections, lymphomas (no NK activity), partial albinism
G6PD Deficiency- cause
deficiency in essential enzyme in HMP shunt pathway
G6PD Deficiency- clinical Sx
recurrent infections with catalase + bacteria, anemia
MPO Deficiency- cause
granule enzyme deficiency
MPO Deficiency- clinical Sx
mild to none
Job syndrome- cause
TH1 cells cant make IFN-g –> PMN’s can’t respond to chemotactic stimuli
Job Syndrome- clinical Sx
carse facies, cold abscesses, retainined 1o teeth, eczema
Classical pathway deficiency- cause
Deficiency in C1q, C1r, C1s, C4 or C2
Classical pathway deficiency- clinical Sx
immune complex diseases, increasing infections with pyogenic bacteria
Alternative Pathway Deficiency- cause
deficiency in factor B or properdin
Alternative Pathway Deficiency- clinical Sx
neisserial infections
C3 Deficiency- cause
Deficiency in C3 –> cant have either classical or alternative pathway active
C3 Deficiency- clinical Sx
recurrent infections, immune complex disease
MAC deficiency- cause
Defect in C5-9
MAC Deficiency- clinical Sx
recurrent neisserial infections
Hereditary Angioedema- cause
C1 inhibitor deficiency –> prolonged activation of classical complement pathway
Hereditary Angioedema- clinical Sx
Edema in various tissues
X Linked Agammaglobulinemia- cause
tyrosine kinase (btk) deficiency –> B cells cant mature
X Linked Agammaglobulinemia- clinical Sx
infections with capsulated bacteria
Hyper IgM syndrome- cause
CD40L on T cells missing –> no class switching
Hyper IgM syndrome- clinical Sx
recurrent infections and high IgM levels (lol obvi)
Common variable immunodeficiency- cause
many causes but there isnt enough Ab production
Common variable immunodeficiency- clinical Sx
Recurrent infections, Ig levels decrease
Transient Hypogammaglobulinemia of infancy- cause
many, but it’s the overall reduction in IgG
Transient Hypogammaglobulinemia of infancy- clinical Sx
respiratory infections, pyogenic infections
Selective IgA Deficiency- cause
unknown, but lack IgA
Selective IgA Deficiency- Clinical Sx
asymptomatic, but increased respiratory infections.
Digeorge syndrome- cause
no thymus –> no T cells
Digeorge syndrome- clinical Sx
weird face, hypopatathyroidism, cardiac malformations, recurrent viral infections
MHC-I Deficiency- cause
failure of TAP1 to transport peptides into ER –> no MHCI w/Ag
MHC-I Deficiency- clinical Sx
recurrent viral infections, normal Ab levels, normal Cd8/4 levels
MHC-II Deficiency- cause
transcription factor defect –> no MHC-II
MHC-II Deficiency- clinical Sx
deficient in CD4 cells, resembles SCID
Bare Lymphocyte Syndrome- cause
stops expression of MHCII –> Th cells dont develop
Bare Lymphocyte Syndrome- clinical Sx
similiar to DiGeorges, recurrent infections
SCID- cause
IL-2 receptor defect –> no growth/differentiation of B or T cells
SCID- clinical Sx
GI problems, mouth lesions, recurrent infections
Adenosine Deaminase Deficiency (like SCID)- cause
adenosine deaminase deficiency –> prevent DNA synthesis in developing B/T cells
Adenosine Deaminase Deficiency (like SCID)- clinical Sx
same as SCID
Omenn Syndrome (like SCID)- cause
RAG1/2 nonsense mutations –> no B or T cells
Omenn Syndrome (like SCID)- clinical Sx
same as SCID
Wiskott-Aldrich Syndrome- cause
defect in cytoskeletal glycoprotein –> decreased Ab’s and platelets
Wiskott-Aldrich Syndrome- clinical Sx
eczema, thrombocytopenia, immunodeficiency
Ataxia telangiectasia- cause
cell cycle kinase mutation –> IgA and IgE deficiency
Ataxia telangiectasia- clinical Sx
ataxia, telengiectasia (broken blood vessels)
