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Immunology > immune deficiencies > Flashcards

immune deficiencies Flashcards

1
Q

x-linked (bruton’s) agammaglobulinemia: defect

A

x-linked recessive (boys > girls)

defect in BTK = no B cell maturation

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2
Q

x-linked (bruton’s) agammaglobulinemia: presentation

A

recurrent bacterial infections after 6 months (decrease maternal IgG) as a result of opsonization defect

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3
Q

x-linked (bruton’s) agammaglobulinemia: findings

A

normal pro-B

  • maturation
  • # B cells
  • Ig’s of all classes
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4
Q

selective IgA deficiency: defect

A

unknown - most common 1* immunodeficiency

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5
Q

selective IgA deficiency: presentation

A

majority asymptomatic

sinopulmonary infections
GI infections
autoimmune disease
anaphylaxis to IgA-containing blood products

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6
Q

selective IgA deficiency: findings

A

IgA < 7 with normal IgG, IgM, and IgG vaccine titers

false-positive B-hCG tests due to heterophile Ab

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7
Q

common variable immunodeficiency (CVID): defect

A

defect in B cell maturation; many causes

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8
Q

common variable immunodeficiency (CVID): presentation

A

can be acquired in 20-30s

increased risk of autoimmune disease, lymphoma, sinopulmonary infections

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9
Q

common variable immunodeficiency (CVID): findings

A

normal # B cells

- plasma cells, Ig’s

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10
Q

thymic aplasia (DiGeorge syndrome): defect

A

22q11 deletion

failure to develop 3rd and 4th pharyngeal pouches

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11
Q

thymic aplasia (DiGeorge syndrome): presentation

A

tetany (hypocalcemia)
recurrent viral/fungal infections (T cell deficient)
congenital heart and great vessels defects

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12
Q

thymic aplasia (DiGeorge syndrome): findings

A

thymus and parathyroids fail to develop => - T cells, - PTH, - Ca

absent thymic shadow on CXR

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13
Q

IL-12 receptor deficiency: defect

A
  • Th1 response
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14
Q

IL-12 receptor deficiency: presentation

A

disseminated mycobacterial infections

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15
Q

IL-12 receptor deficiency: findings

A
  • IFN-y
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16
Q

hyper-IgE syndrome (Job’s syndrome): defect

A

Th1 cells fail to produce IFN-y = inability of neutrophils to respond to chemotactic stimuli

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17
Q

hyper-IgE syndrome (Job’s syndrome): presentation

A 
FATED:
coarse facies
cold (noninflamed) staphylococcal abscesses
retained primary teeth
\+ IgE
dermatologic problems (eczema)
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18
Q

hyper-IgE syndrome (Job’s syndrome): findings

A

+ IgE

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19
Q

chronic mucocutaneous candidiasis: defect

A

T cell dysfunction

20
Q

chronic mucocutaneous candidiasis: presentation

A

C. albicans infections of skin and mucous membranes

21
Q

severe combined immunodeficiency (SCID): defect

A

several types:
defective IL-2 receptor (MC, X-liked)
adenosine deaminase deficiency

22
Q

severe combined immunodeficiency (SCID): presentation

A

failure to thrive
chronic diarrhea
thrust
recurrent infections of all types

23
Q

severe combined immunodeficiency (SCID): findings

A
  • T cell recombinant excision circles (TRECs)
    absence of thymic shadow, germinal centers (lymph node biopsy), B cells (peripheral blood smear), and T cells (flow cytometry)
24
Q

severe combined immunodeficiency (SCID): treatment

A

bone marrow transplant

25
Q

ataxia-telangiectasia: defect

A

defects in the ATM gene, which codes for DNA repair enzymes

autosomal recessive

26
Q

ataxia-telangiectasia: presentation

A 
triad of:
cerebellar defects (ataxia)
spider angiomas (telangiectasia)
IgA deficiency

increased risk of hematologic malignancies
DNA is hypersensitive to X-ray radiation => multiple breaks

27
Q

ataxia-telangiectasia: findings

A

+ AFP

28
Q

hyper-IgM syndrome: defect

A

MC: defective CD40L on CD4 T cells = inability to class switch

29
Q

hyper-IgM syndrome: presentation

A

severe pyogenic infections early in life

30
Q

hyper-IgM syndrome: findings

A

+ IgM

- - IgG, IgA, IgE

31
Q

hyper-IgM syndrome: treatment

A

IV gamma globulin

32
Q

wiskott-aldrich syndrome: defect

A

X-linked

defect in WASP gene => T cells unable to reorganize actin cytoskeleton

33
Q

wiskott-aldrich syndrome: presentation

A

triad of: (TIE)
thrombocytopenia (causes petechiae, purpura, hematemesis, epistaxis)
infections
eczema

34
Q

wiskott-aldrich syndrome: findings

A

+ IgE, IgA
- IgM
thrombocytopenia

35
Q

leukocyte adhesion deficiency (type 1): defect

A

defect in LFA-1 integrin (CD18) protein on phagocytes

36
Q

leukocyte adhesion deficiency (type 1): presentation

A

recurrent bacterial infections
absent pus formation
delayed separation of umbilical cord

37
Q

leukocyte adhesion deficiency (type 1): findings

A

neutrophilia

38
Q

chédiak-higashi syndrome: defect

A

autosomal recessive

defect in lysosomal trafficking regulator gene (LYST) = microtubule dysfunction in phagosome-lysosome fusion

39
Q

chédiak-higashi syndrome: presentation

A

recurrent pyogenic infections by staph and strep
partial albinism
peripheral neuropathy

40
Q

chédiak-higashi syndrome: findings

A

giant granules in neutrophils

41
Q

chronic granulomatous disease: defect

A

lack of NADPH oxidase => decreased reactive oxygen species and absent respiratory burst in neutrophils

42
Q

chronic granulomatous disease: presentation

A

increased susceptibility to catalase-positive organisms

43
Q

chronic granulomatous disease: findings

A

abnormal dihydrorhodamine (DHR) flow cytometry test

nitroblue tetrazolium dye reduction test no longer preferred

44
Q

where does positive selection occur for differentiation of T cells?

A

thymic cortex

45
Q

where does negative selection occur for differentiation of T cells?

A

thymic medulla

46
Q

wiskott-aldrich syndrome: treatment

A

HLA-matched bone marrow transplantation

Immunology (5 decks)

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