PID Flashcards by Aman Kankaria | Brainscape

Q

T-, B-, NK-

IGM-, IGG-, IGA-

Autosomal

A

ADA (scid)

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Q

T- B- NK -/+

IGM+, IGG+, IGA+

Autosomal

A

PNP

SCID

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Q

T- B- NK+

(SOME MUTATIONS CAN BE LOW)

AUTOSOMAL

A

ARTIMES

SCID

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Q

T- B- NK+

IGM-, IGG-, IGA-

AUTOSOMAL

A

RAG1/RAG2

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Q

T- B+ NK -

IGM+, Igg-, Iga-

Autosomal

A

Jak 3

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Q

T+ B- NK+

IGM-, IGG-, IGA -

X linked

A

BTK gamma globulima

recurrent bacterial infections
no live vaccines
hcst treatment

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Q

T+ B- NK+

IGM-, IGG-, IGA -

autosomal recessive

A

Agamma globliumenia

recurrent bacterial infections
no live vaccines
hcst treatment

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Q

T+ B+ NK+

IGM+, IGG+, IGA -

Autosomal (higher in males)

A

IgA

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Q

T+ B+ NK+

IGM+, IGG+, IGA +

Autosomal

A

IgG subclass

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Q

T+ B+ NK+

IGM+, IGG-, IGA -

X linked/ autosomal

A

Hyper IGM syndrome

encapsulated opp infections
dont give polio vac
symptomatic treatment

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Q

T+ B-/+ NK+

IGM+, IGG-, IGA -

baby

A

Transient IGM syndrome

encapsulated opp infections
dont give polio vac
symptomatic treatment

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Q

T- B+ NK-

-Igm+ igg- Iga-

X linked

A

common gamma chain (IL-2R) or CD3

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Q

Cd4 lymphoenia

hypogammaglobliumia

autosomal recessive

A

BLS II

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Q

cd8 low and nk diff

IGM+ IGG+ IGA+

Autosomal recessive

A

MHC class 1

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Q

T- B+ NK+
USUALLY NORMAL AB
AUTOSOMAL DOMN

A

DiGeorge

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Q

TH17 diff

A

mutation in stat one, stat3, or aire

autosomal recessive
have hyper IgE syndrome

Q

IPEX

A

mutation in fox p3, loss of inhibition

Q

ALPS

A

deffect in fas, fasL, caspase 8 or 10,

-resistance of effector T cells to apoptosis

Q

T-, B+, NK-

Low IgM normal IgG, elevated IgA and IgE

-X linked disorder

A

WAS: thrombocytopenia (decrease in platlets)

Q

Chronic granulomatous disease

A

defect in NADPH oxidase, phagocytes cant produce O2

common more in males than females
(granulmoas)

Q

leukocyte adhesion diff

A

deffective cd18 molecule thus cant travel in to infected tissue
-elevated neutrophil count

Q

Glucose 6 phosphatase difiency

A

deffective in repitaroty burst

-x linked

Q

myleoperodixase diff

A

diff in myleoperoxidase in neutrophil granules

Q

Cheiak higashi syndrome

A

defect in vesicle fusion

Q

Neisseria meningitis causes

A

alternative complement pathway defects

Q

C1 esterase inhibitor causes

A

hereditary angioedemia

Q

decay acc factor casues

A

paroxysmal nocturnal hemoglobinuria