lecture 39

Question 1

1 in 500 individuals are born with this
affect only immune cells
affects other systems and cells as well
defects in one or more components of the immune system

Answer 1

immunodeficiencies

Question 2

HIV is most notably which type of immunodeficiency?

Answer 2

secondary immunodeficiency

Question 3

what are the eight broad categories of immunodeficiency?

Answer 3

combined immunodeficiency
combined syndromic immunodeficiency 
antibody deficiency
diseases of immune dysregulation
phagocytic disorders
defects of innate immunity
autoinflammatory syndromes
complement deficiencies

Question 4

what are the 10 warning signs of primary immunodeficiency?

Answer 4

four or more new infections within 1 year
two or more serious sinus infections within 1 year
two or more months on antibiotics with little affect
two or more pneumonias w/in 1 year
failure of infant to grow
recurrent, deep skin/organ abscesses
persistent thrush in mouth or fungal infections
need for intravenous antibiotics
two or more deep seated infections
a family history of PI

Question 5

what are the defects in innate immunity? 4 of them

Answer 5

congenital phagocyte disorders
complement deficiencies
NK cell deficiency
Genetic defects in TLR and in IL-12 pathway

Question 6

name of the defect in innate immunity related to defective phagocytes?

Answer 6

chronic granulomatous disease
Leukocyte adhesion deficiency type 1-3
Chediak-Higashi syndrome

Question 7

because we know that there a lot of the complement deficiencies tied to defects in the innate immunity, what is deficient?

Answer 7

complement components like the classical pathway
complement regulatory proteins
complement receptors

Question 8

what cells are affected in an adaptive immunodeficiency? what are the four features?

Answer 8

B and T cells, T cell deficiency can manifest as defects in innate immunity via a Tcell and macrophage interaction

infections
serum Ig levels
DTH reactions
morphology of lymphoid tissues

Question 9

what are the types of adaptive immunodeficiencies?

Answer 9

severe combined immunodeficiencies

• x-linked
• autosomal recessive due to ADA, PNP deficiency (nucleotide metabolism)
• autosomal recessive due to other causes in metabolism like Reticular dysgenesis*, defects in VDJ recombination

B cell deficiency
-x-linked agammaglobulinemia
-Ig heavy chain deficiencies
     -IgG3 deficiency (adults), IgG2 and IgA   
      deficiency (children)
     -IgM syndromes
          -x-linked
          -autosomal recessive with cell-
           mediated immune defects
          -autosomal recessive with antibody 
           defect only
-Common Variable Immunodeficiency

Disorders of the T cells

• DiGeorge Syndrome
• x-linked disease, defect in Wiskott Aldrich syndrome protein, called Wiskott-Aldrich syndrome
• Omenn’s syndrome
• Hyper IgE syndrome

Multisystem Disorders with Immunodeficiency
-Ataxia-Telangiectasia

Question 10

therapeutic approaches for congenital immunodeficiencies?

Answer 10

minimize and control infections
replace the defective or absent components

• passive immunization with IVIg
• Hematopoietic stem cell transplantation
• Gene therapy for ADA defiency and X-linked SCID, though leukemia results