Congenital and Acquired Immunodeficiencies Flashcards
what is another name for Wiskott Aldrich Syndrome?
eczema-thrombocytopenia immunodeficiency
what antibodies are high in WAS?
IgA/IgE
what cells are abnormal in WAS?
B cells
What is the Treatment for WAS?
bone marrow transplant
What is deficient in X-linked SCID?
y (gamma) chain in the cytokines: IL-2/4/7/9/15
what is affected in the other 2 autosomal SCID’s?
1) ADA
2) PNP
what cell lineage is mostly affected in SCID?
T cells don’t mature
what 2 symptoms are found in SCID?
no T helper cells
chronic baby diarrhea
no thymus develops
In autosomal SCID-ADA what lymphocytes are deficient?
T cells
B cells
NK cells
In autosomal SCID-PNP, what lymphocytes are absent?
no T cells
in X-Linked SCID, what lymphocytes are absent?
T cells and therefore no B cells
what is absent in DiGeorge?
The thymus
what 3 signs are seen in DiGeorge?
1) abnormal jaw
2) abnormal aorta
3) abnormal parathyroid glands
If there is a defect in the transport of MHC 1 molecules to the surface of the cells, I have this disease…
TAP deficiency
what cells can’t load MHC 1 into their surface in TAP deficiency?
all nucleated cells
what 2 things are mainly seen in TAP deficiency?
1) necrotizing granulomas
2) nose and face have skin lesions
What lymphocyte is absent in XLA (brutton’s)
B cells
what is the treatment for XLA?
and IV of Immunoglobulin’s IgA/IgE/IgM
what happens if a polio vaccine is given to a kid with XLA?
he might suffer paralysis
What physical thing is absent in XLA (brutton’s)?
tonsils
what auto-antibodies are seen in IgA deficiency?
there may be autoantibodies against IgA
how are IgA deficiency patients treated?
you treat specific infections
what is deficient in X-linked Hyper IgM?
the CD-40L
In X-linked hyper IgM, what cells can’t communicate? what happens do to this lack of communication?
t helper cell with B cell; t cell cant tell b cell to class switch
What is the defect in Autosomal Hyper IgM? what is the result?
AID is not working causing B cell to not class switch, this means IgM is the only antibody present
what is not being made in Chronic Granulomatous Disease?
Reactive oxygen species (ROS)
what 2 things are seen in CGD patients?
1) Impetigo
2) granulomas in organs
What is the defect in Leukocyte Adhesion deficiency? (LAD)
LFA-1 is absent
What happens with phagocytes in LAD?
they can’t go to site of infection
what infections are seen in LAD deficiency?
tissue-eroding infections in skin and gums
what is the defect in Hereditary Angioedema?
you have low C1 inhibitor
what is the characteristic symptom in Hereditary Angioedema?
swelling of trachea and bronchus
what complement pathway cannot be controlled in Herediatry Angioedema?
Classical pathway
what is mutated in Chediak-Higashi syndrome?
LYST
what cannot be formed in Chediak-Higashi?
the phagolysosoma
What cell is affected and why in Chediak-Higashi?
Cytotoxic T cells because they can’t secrete their granules
what 3 symptoms are seen in Chediak-Higashi?
1) Albinism
2) peripheral neuropathy
3) pyogenic infections
