Immuno Path IV - Immuno def. disorders

Question 1

Define a primary immunodeficiency vs a secondary.

Answer 1

Primary - Rare genetically inherited.

Secondary- Disorder caused by infection or disease therapy.

Question 2

What type of mutation is X-Linked agammaglobulinemia of Bruton?

Answer 2

X-linked recessve affecting male patients (Females have X protection)

Question 3

What genetic mutation has occured in those with X-Linked agammaglobulinemia of Bruton?

Answer 3

Mutation of B cell tyrosine kinase gene (btk) at Xq21.22 - normal B cell signaler.

Leads to inability to differentiate immature B cells into mature B cells.

Question 4

Repeated infections with pyogenic bacteria and other types following 6 months after birth is highly indicitive of what disorder?

Answer 4

X-Linked agammaglobulinemia of bruton due to lack of B cells after mothers antibodies dissapear.

Question 5

What is the treatment for X-Linked agammaglobulinemia of Bruton?

Answer 5

Parenteral immunoglobulin replacement via IV IgG.

Question 6

Common variable immunodeficiency is the marked lacking of what?

Answer 6

Lacking of immunoglobulin occurring equally in men and women.

B cells are unable to mature into plasma cells however B-cells will appear at normal concentration in the blood just no plasma cells.

Question 7

Repeat bacterial infections in the sinuses and upper respiratory tracts should get you thinking of what?

Answer 7

Common variable immunodeficiency due to lack of IgA antibodies being produced by lack of plasma cells.

Question 8

What is the therapy for common variable immunodeficiency?

Answer 8

Antibiotics or intravenous IgG.

Question 9

What is the occurence of Selective IgA deficiency?

Answer 9

Most common immunodisorder affecting 1/600 to 1/700 Americans with European ancestry.

Question 10

A patiet presenting with anti-IgA could possibly have what immunodeficiency?

Answer 10

Selective IgA deficiency

caused by drinking mothers milk or bovine milk.

Question 11

Hyper- IgM syndrome is due to what?

Answer 11

Lack of antibody switch from IgM to IgG due to T cells being unable to induce B-cell switching.
Via CD40 and CD40 Ligand.

Question 12

What gene is at fault for Hyper IgM syndrome?

Answer 12

70% cases X-linked on Xq26 gene for CD40 ligand.

Remaining show autosomal recessive pattern

Question 13

What is the treatment for hyperactive IgM syndrome?

Answer 13

Bone marrow transplant or immunoglobulin replacement therapy.

Question 14

What is the general pathology of DiGeorge Syndrome?

Answer 14

Multiorgan disorder with selective T cell defieiceny due to thymic aplasia or hypoplasia.

*Development of 3 and 4th

Question 15

What is the chromosomal disorder associated with Digeorge syndrome?

Answer 15

Microdeletion of band 11 on the long arm of chromosome 22.

Typically called CATCH-22

Question 16

What does Digeorges CATCH-22 stand for?

Answer 16

cardiac defects
abnormal facies
t cell deficit
hypocalcemia
22 deletion on chromosome 22.

Question 17

Low set ears, midline clefts, small mandibles, and right subclavian artery originating from the pulmonary artery are all signs of what disorder

Answer 17

DiGeorges syndrome.

Question 18

What is the overlying theme related to SCIDS

Severe combined immunodeficiency

Answer 18

Severe T cell defects leading to low B and T cell!

Effect cellular and humoral immunity!!

Question 19

What are the two genetic patternings of SCIDS?

Answer 19

X-Linked recessive pattern due to mutation in gamma chain of cytokine receptor gene Xq13.

Autosomal recessive pattern

Question 20

What is the deficiency seen in Autosomal recessive patterning of SCIDS?

Answer 20

Adenosime deaminase deficiency -> Build up of lymphotoxic metabolites.

Failure of expression of Class II MHC molecules