random things

Question 1

What are the combined immunodeficidencies?

Answer 1

WASH with WAter

Wiskott aldrich (WAter)
Ataxia telangiectasia
Scid
Hyper IgM

Question 2

SCID

Answer 2

x linked= IL2
AR= ADA
lack GC, will not respond to candida skin test, no thymic shadow

treatment = BM transplant with no risk for rejection

Question 3

Ataxia telangiectasia

Answer 3

ATM= ataxia telangiectasia mutated
does DNA repair
triad: AAA –> ataxia, angiomas, IgA

INC AFP, decrease IgA/E/G

Question 4

hyper igM

Answer 4

mutated CD40L
X linked recessive
pyogenic and opprotunistic infections

Question 5

wiskot aldrich

Answer 5

WATER
mutated WAS gene –> can’t reorganize actin cytoskeleton
Thombocytopenia, eczema, recurrent infections
x linked recessive

Question 6

phagocyte dysunction disorders

Answer 6

Leukocyte adehsion deficiency (Ar)
chediak higashi syndrome (AR)
CGD (x-linked)

Question 7

Leukocyte adehision deficiency

Answer 7

defect: LFA integrin (CD18) –> impaired migration and chemotaxis
findings: increased neutrophils from marginated pool with ABSENCE of neuts at site of infection
- absent pus
- impaired wound healing
- delayed separation of umbilical cord

Question 8

chediak higashi

Answer 8

defect: LYST (lysosomal trafficking –> microtubule dysx in pagosome lysosome fusion
findings: giant granules in granulocytes and platelets
- staph and strep infx
- albinism
- peripheral neuropathy
- neurodegeneration
- lymphohistiocytosis

CANT GET THE PHAGOSOME TO THE LYSOSOME

Question 9

CGD

Answer 9

defect: NADPH oxidase –> decreased respiratory burst due to decrease ROS