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Immunology > Immunodeficiencies > Flashcards

Immunodeficiencies Flashcards

1
Q

B-cell disorders?

A

Bruton’s, IgA deficiency, common variable immunodeficiency (CVID)

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2
Q

T-cell disorders?

A

DiGeorge syndrome, IL-12 receptor deficiency, hyper-IgE (Job’s syndrome), chronic mucocutaneous candidiasis

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3
Q

B and T-cell disorders?

A

SCID, ataxia telangiectasia, hyper-IgM, Wiskott-Aldrich

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4
Q

Phagocyte disorders?

A

Leukocyte adhesion deficiency (type 1), Chediak-Higashi, chronic granulomatous disease

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5
Q

Defect in BTK (a tyrosine kinase gene)?

A

Bruton’s

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6
Q

No B-cell maturation but normal pro-B cells?

A

Bruton’s

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7
Q

S/S of Bruton’s?

A

Recurrent bacterial infections after 6 months (low maternal IgG) as a result of opsonization defect

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8
Q

Deficient in Bruton’s?

A

Low B-cells, low Igs of all types

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9
Q

Most common primary immunodeficiency?

A

IgA deficiency

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10
Q

False positive test seen in IgA deficiency?

A

B-hCG–due to presence of heterophile Ab

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11
Q

Sinupulmonary infection, GI infection?

A

IgA deficiency?

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12
Q

Anaphylaxis after blood transufsion?

A

IgA deficiency–with blood products containing IgA

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13
Q

Normal number of B-cells but low plasma cells and Igs?

A

CVID

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14
Q

S/S of CVID?

A

Acquired in 20s-30s, increased risk for autoimmune dz, lymphoma, sinupulmonary infections

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15
Q

22q11 deletion syndrome?

A

DiGeorge

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16
Q

Which branchial pouches do not develop in DiGeorge?

A

3rd and 4th

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17
Q

Labs seen in DiGeorge?

A

Low T-cells, low PTH, hypocalcemia, absent thymic shadow on CXR

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18
Q

S/S of DiGeorge?

A

Tetany, recurrent viral/fungal infections, congenital heart and great vessel defects

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19
Q

What has a diminished Th1 response?

A

IL-12 receptor deficiency

20
Q

S/S of IL-12R deficiency?

A

Disseminated mycobacterial infections

21
Q

Labs in IL-12R deficiency?

A

Low IFN-g

22
Q

Most common cause of SCID?

A

Defective IL-2 receptor (X-linked)

23
Q

Causes of SCID?

A

IL-2R defect, ADA deficiency

24
Q

S/S of SCID?

A

Recurrent infections of ALL types, absence of thymic shadow, germinal centers, and B-cells (peripheral blood smear)

25
Q

How do you tx SCID?

A

Bone marrow transplant (no allograft rejection)

26
Q

What are the lab findings for SCID?

A

Low T-cell recombinant excision circles (TRECs), absence of T-cells (flow cytometry)

27
Q

What is the defect in ataxia telangiectasia?

A

ATM gene–codes for DNA repair EZs

28
Q

What is the triad of sxs in ataxia telangiectasia?

A

Cerebellar defects (ataxia), spider angiomas (telangiectasia), IgA deficiency

29
Q

What are the labs in ataxia telangiectasia?

A

High a-fetoprotein

30
Q

CD40L defect on Th cells?

A

Hyper-IgM–inability to class switch

31
Q

S/S of hyper IgM?

A

Severe pyogenic infections early in life

32
Q

Defect in Wiskott Aldrich?

A

WAS gene on X Chr–leading to T-cells unable to reorganize actin cytoskeleton

33
Q

What is the triad of sxs in Wiskott Aldrich?

A

TTP, Infections, Eczema (TIE)

34
Q

What are the labs in Wiskott Aldrich?

A

High IgE, IgA; low IgM; thrombocytopenia

35
Q

Defect in LFA-1 integrin (CD18) protein?

A

Leukocyte adhesion deficiency

36
Q

S/S of leukocyte adhesion deficiency?

A

Recurrent bacterial infections, absent pus formation, delayed separation of umbilical cord

37
Q

Defect in lysosomal trafficking regulator gene (LYST)?

A

Chediak Higashi–microtubule dysfunction in phagolysosome fusion

38
Q

S/S of Chediak Higashi?

A

Recurrent pyogenic infections by staph and strep, partial albinism, peripheral neuropathy

39
Q

Giant granules in neutrophils?

A

Chediak Higashi

40
Q

Lack of NADPH oxidase?

A

CGD–low ROIs and absent respiratory burst in neutrophils

41
Q

S/S of CGD?

A

Increased susceptibility to catalase positive organisms (staph, E. coli, Aspergillus)

42
Q

Dx for CGD?

A

Negative nitroblue tetrazolium dye reduction test, abnormal dihydrorhodamine (DHR) flow cytometry test

43
Q

Tx for CGD?

A

IFN-g

44
Q

Defect in Jobs syndrome?

A

Th1 cells fail to produce IFN-g causing inability of neutrophils to respond to chemotactic stimuli

45
Q

S/S of Job’s syndrome?

A

Coarse Facies, cold (noninflamed) staph Abscesses, retained primary Teeth, high IgE, Dermatologic problems (eczema) (FATED)

46
Q

Candida infections of skin and mucous membranes?

A

Chronic mucocutaneous candidiasis

Immunology (8 decks)

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