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J's Deck > Immunodeficiencies > Flashcards

Immunodeficiencies Flashcards

1
Q

low B cell and low Ig (all types)

A

Bruton

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2
Q

defective LYST gene (lysosomal transport)

A

Chediak-Higashi

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3
Q

high AFP

A

ataxia telangiectasia

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4
Q

infections with DiGeorge

A

viral
fungal
protozoa

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5
Q

defective DNA nonhomologous end joining repair

A

ataxia telangiectasia

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6
Q

mutation in STAT3 signalling protein

A

Hyper-IgE (Job)

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7
Q

ATAXIA

A 
Ataxia
Telangiectasia/Tracking eye difficulties
Acute leukemia + lymphoma
X-ray sensitivity
IgA def
AFP
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8
Q

high: IgE, eosinophils

A

Hyper-IgE (Job)

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9
Q

IL-12 receptor deficiency

A

no T cell proliferation

  • mycobacterial
  • fungal infections
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10
Q

no NADPH oxidase

A

chronic granulomatous disease

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11
Q

no class switching

A

hyper-IgM

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12
Q

chronic mucocutaneous candidiasis

A

T cell dysfunction against Candida

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13
Q

partial albinism + recurrent respiratory/lung infections (Staph, Strep) + neuro

A

Chediak-Higashi

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14
Q

ADA deficiency

A

SCID

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15
Q

defect in early stem cell differentiation

A

SCID

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16
Q

X-linked (4)

A

Bruton
hyper IgM
Wiskott-Aldrich
chronic granulomatous disease

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17
Q

deficient CD40L-Cd40 interaction

A

hyper-IgM

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18
Q

low: IgA, T cells

sinus + lung infections

A

ataxia telangiectasia

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19
Q

WAITER

A

Wiskott
Aldrich
Immunodeficiency

Thrombocytopenia + purpura
Eczema
Recurrent pyogenic infections

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20
Q

increased risk of lymphoma + acute leukemias

A

ataxia telangiectasia

21
Q

anaphylaxis to blood transfusions + products

A

IgA deficiency

22
Q

CXR newborn; NO thymus

23
Q

Eczema

A

Wiskott-Aldrich

24
Q

radiation sensitivity

A

ataxia telangiectasia

25
Q

retain baby teeth –> 2 rows of teeth

A

Hyper-IgE (Job)

26
Q

Bruton infections

A

after 3-6 months (once immunity from mom goes away)

  • polio
  • coxsackie
  • Garidia

*avoid live vaccines

27
Q

defective phagocyte lysosomes

A

Chediak-Higashi

28
Q

atophy, asthma

A

IgA deficiency

29
Q

high: IgM

A

hyper-IgM syndrome

30
Q

abnormal integrins (phagocytes can’t exit circulation)

A

leukocyte adhesion deficiency syndrome

31
Q

delayed separation of umbilical cord

A

leukocyte adhesion deficiency syndrome

32
Q

susceptible to S. aureeus + Aspergillus + Nocardia

A

chronic granulomatous disease

33
Q

defense relies on NK cells

A

SCID

no B or T cells

34
Q

eczema + recurrent Staph abscesses/boils + corase facial features

A

Hyper-IgE (Job)

35
Q

mutated WASP gene (cytoskeletal actin polymerization)

A

Wiskott-Aldrich

36
Q

Thrombocytopenia + purpura

A

Wiskott-Aldrich

37
Q

impaired differentation of Th-17 cells (recruit PMN)

A

Hyper-IgE (Job)

38
Q

Hyper-IgE (Job)

A
  • eczema
  • recurrent cold Staph abscesses (boils)
  • corase facial features
39
Q

defective Tyr kinase gene

A

Bruton agammaglobulinemia

40
Q

giant cytoplasmic granules in PMN

A

Chediak-Higashi

41
Q

1) recurrent infections ( mucocutaneous candidiasis, RSV/VZV/HSV/measles/flu/parainfluenza, PCP)
2) chronic diarrhea
3) failure to thrive

42
Q

healthy

viral sinus + lung infections

A

IgA deficiency

43
Q

Chediak-Higashi

A

partial albinism
recurrent respiratory/lung infections
neuro

44
Q

low: IgM, IgG –> B, T cells
high: IgA, IgE

A

Wiskott-Aldrich

45
Q

TX for chronic granulomatous disease

A

TMP-SMA
itraconazole
IFN-g

46
Q

lack CD 18

A

leukocyte adhesion deficiency

47
Q

persistent leukocytosis (WBC)

A

leukocyte adhesion deficiency

48
Q

abnormal gamma chain shared by several interleukin receptors

J's Deck (18 decks)

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