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22 Cards in this Set

  • Front
  • Back
The pharyngeal apparatus is first observed in what week of development?
Week 4
Week 4
DiGeorge syndrome is?
Developmental failure of the third and fourth pharyngeal pouches. Due to 22q11 microdeletion. Presents with T-cell deficiency (lack of thymus); hypocalcemia (lack of parathyroids); and abnormalities of heart, great vessels, and face
SCID is?
Severe Combined Immunodeficiency.

Defective cell-mediated and humoral immunity. Etiologies are many.
What are some important causes of SCID?
(1) Cytokine receptor defects.
(2) Adenosine deaminase (ADA) deficiency.
(3) MHC class II deficiency (for CD4+ helper activation and cytokine production).
SCID is characterized by a susceptibility to [...]?
Everything. Fungal, viral, bacterial, protozoal infections. They are susceptible to opportunistic infections and also live vaccines.
Treatment of SCID?
Sterile isolation ("bubble baby") and stem cell transplantation.
What is X-linked agammablobulinemia?
Complete lack of immunoglobulin due to disordered B-cell maturation. Pre-B cells cannot mature to mature B-cells. Due to a mutated (Bruton's) tyrosine kinase.
How does X-linked agammaglobulinemia present?
Presents after 6 months of life with recurrent bacterial, enterovirus (e.g., polio and coxsackievirus), and Giardia lamblia infections; maternal antibodies present during the first first months of life are protective.
What must be avoided (like in SCID) in X-linked agammaglobulinemia?
Live vaccines (e.g., polio).
What is CVID?
Common variable immunodeficiency. Low immunoglobulin due to B-cell or helper T-cell defects (B-cells to plasma cells).
In CVID you would be susceptible to?
Increased risk for bacteria, enterovirus, and Giardia lamblia infections, usually in late childhood. ALSO, increased risk for autoimmune diseases and lymphoma.
This is the MC immunodeficiency. What is the problem and what are patients susceptible to?
IgA deficiency. Low serum and mucosal IgA. Increased risk for mucosal infection, especially viral; however, most patients are asymptomatic.
Hyper IgM-syndrome is characterized by _________.
elevated IgM
Hyper IgM-syndrome is due to? What is the main problem with this disease?
Mutated CD40L (on helpers) or CD40 receptors (on B-cells).

There are two ways in which B-cells get activated:
(1) Naive B-cell with monomeric IgM gets directly activated (antigen) --> IgM secreting plasma cell
(2) Antigen is internalized and presented on MHC II. Helper binds MHC II. CD40 stimulus is second signal. IL-4, IL-5 from helper will hit the B-cell and mature it and let it undergo class switching (IgG, IgA, IgE)

Without CD40 second signal, the first pathway is the only remaining pathway, flooding it, producing high IgM.
In Hyper IgM-syndrome you would be susceptible to what?
Low IgA, IgG, and IgE result in recurrent pyogenic infections (due to poor opsonization), especially at mucosal sites.
What is a clinical presentation of Wiskott-Aldrich syndrome? What is it due to?
Characterized by thrombocytopenia, eczema, and recurrent infections (defective humoral and cellular immunity). Due to mutation in the WASP-gene; X-linked.
Characterized by thrombocytopenia, eczema, and recurrent infections (defective humoral and cellular immunity). Due to mutation in the WASP-gene; X-linked.
A 3 year old boy has a scalp rash. His mother had an episode of rash when she was young but doctor thought nothing about it. A rapidly increasing mass on the boy's neck has developed. What is going on?
Wiskott-Aldrich syndrome. X-linked recessive. There is an associated increased risk for malignant lymphomas.
What is a mnemonic to remember which immunoglobulins are elevated in Wiskott-Aldrich?
wEAskott-aldrich (elevated IgA, elevated IgE)
Deficiency in these proteins make patients susceptible to Neisseria.
C5-C9 deficiencies—increased risk for Neisseria infection (N. gonorrhoeae and N. meningitidis)
A woman has episodes of periorbital swelling and a "choking" sensation. What could be an underlying immunodeficiency?
C1 esterase inhibitor deficiency. Continued C1 activation decreases C2 and C4 and increases their cleavage products, which have anaphylatoxic activity. C3 would be normal.
This is the MC complement deficiency. What are some associations?
C2; Association with septicemia (usually Streptococcus pneumoniae) and lupus-like syndrome in children.
A patient has the following sign. He has a smaller than normal thymic shadow. He has had trouble with walking and maintaining a balanced gait for a long time. alpha-fetoprotein is high. What could be wrong?
A patient has the following sign. He has a smaller than normal thymic shadow. He has had trouble with walking and maintaining a balanced gait for a long time. alpha-fetoprotein is high. What could be wrong?
Ataxia-Telangiectasia. Mutation in DNA repair enzymes. AR. There is an increased risk for lymphoma and/or leukemia. IgA are often low.