Immune Responses III

Question 1

bruton agammaglobulinemia

Answer 1

X-linked

defect in BTK - tyrosine kinase gene - no B cell maturation

after 6 months - get enteroviral infection recurrent

absent B cell in peripheral blood
low Ig all classes

absent lymph nodes/tonsils

Question 2

selective IgA deficiency

Answer 2

MC primary immunodeficiency

majority asymptomatic

airway and GI infections

anaphylaxis to IgA blood products

low IgA - normal IgG and IgM

Question 3

common variable immunodeficiency

Answer 3

defect B cell differentiation

acquired 20-30yo

increased risk autoimmune disease

bronchiectasis, lymphoma, sinopulmonary infection

low plasma cells and Igs

Question 4

thymic aplasia

Answer 4

digeorge

22q11 deletion

failure 3rd and 4th pharyngeal pouches

absent thymus and parathyroids

tetany - hypoCa
recurrent viral/fungal infection

tetralogy of fallot and truncus arteriosus possible

Question 5

IL-12 receptor deficiency

Answer 5

low Th1 cell response

auto recssive

disseminated mycobacterial and fungal infetion

after BCG vaccine

low IGN-famma

Question 6

job syndrome

Answer 6

auto dominant
hyper IgE syndrome

deficiency Th17 - STAT3 mutation

impaired recruitment of neutros to site of infection

coarse facial features, staph abscess, retained primary teeth, dermatologic problems

high IgE and low IFN-gamma

Question 7

chronic mucocutaneous candidiasis

Answer 7

T cell dysfunction

non invasive candida infection of skin and mucous membranes

absent rxn to cutaneous candida Ags

Question 8

SCID

Answer 8

adenosine deaminase deficienct - auto recessive

defective IL-2R gamma chain - X-linked

Question 9

SCID

Answer 9

B and T cell disorder

failure to thrive
chronic diarrhea
thrush
recurrent viral, bacterial, fungal, protozoal infections

tx - bone marrow transplant - no concern for rejection

absent thymic shadow, lynph nodes, and T cells

Question 10

ataxia telangeictasia

Answer 10

defective ATM gene

failure repair double strand DNA breaks

Question 11

cerebellar defect, spider angioma, IgA deficiency

Answer 11

triad of ataxia telangiectasia

Question 12

labs of ataxia telangiectasia

Answer 12

high AFP

low IgA, IgG, and IgE

lymphopenia, cerebellar atrophy

Question 13

hyper IgM syndrome

Answer 13

defective CD40L on Th cells

class switching defect

X-linked recessive

Question 14

severe pyogenic infections early in life

-pneumocystis, cryptosporidium, CMV

Answer 14

hyper IgM syndrome

high IgM

low IgG, IgA, IgE

Question 15

wiskott aldrich syndrome

Answer 15

mutation WAS gene - x-linked recessive

T cell cannot reorganize actin cytoskeleton

thrombocytopenia purpura
eczema
recurrent infetions

increased risk autoimmune disease and malignancy

decreased or normal IgG and IgM

high IgE and IgA

few and small platelets

Question 16

leukocyte adhesion deficiency

Answer 16

defect LFA-1 integrin - CD18

impaired migration ad chemotaxis

auto recessive

Question 17

recurrent bacterial skin and mucosa infection, absent pus, delayed separation of umbilical cord

Answer 17

leukocyte adhesion deficiency

elevated neutros - absent at site of infection

Question 18

chediak higashi syndrome

Answer 18

defect lysosomal trafficking regulator gene

LYST

microtubule dysfunction - phagosome lysosome fusion

auto recessive

Question 19

giant granule in granulocytes and platelets, pancytopenia, recurrent staph and strep infection, partial albinism, peripheral neuropathy

Answer 19

chediak higashi

Question 20

chronic granulomatous disease

Answer 20

defect NADPH oxidase

decreased ROS formed

X-linked recessive

Question 21

increased susceptibility to catalase positive bugs

Answer 21

chronic granulomatous disease

nocardia, pseudomonas, listeria, aspergillus, candida, E. coli, staph aureus, serratia

abnrormal dihydrohodamine test

nitroblue tetrazolium dye reduction test is negative

Question 22

encapsulated bugs

Answer 22

strep pneumo
H. flu B
neisseria meningitis
E. coli
salmonella
klebsiella
group B strep

Question 23

auto graft

Answer 23

from self

Question 24

syngenic graft

Answer 24

isograft

from identical twin

Question 25

allograft

Answer 25

from same species

Question 26

xenograft

Answer 26

from different species

Question 27

hyperacute transplant rejection

Answer 27

minutes

-preformed Abs - type II HS

Question 28

acute transplant rejection

Answer 28

weeks to months

cellular- CD8 T cell activated against donor MHCs

humoral - Ab form to donor

vasculitis - lymphocyte infiltrate

tx - immunosuppression

Question 29

chronic transplant rejection

Answer 29

months to years

CD4 T cell - to recipient APCs presenting donor pepties

cellular and humoral response

see proliferation of vasc smooth m and parenchymal fibrosis

arteriosclerosis

Question 30

graft vs. host disease

Answer 30

varied time of onset

graft T cell proliferate in immunocompromised host

reject host cells with foreign proteins

severe organ dysfunction

maculopapular rash, jaundice, diarrhea, hepatosplenomegaly

usually bone marrow and liver transplants