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FA Immuno > Immune deficiencies > Flashcards

Immune deficiencies Flashcards

1
Q

Defect in BTK, a tyrosine kinase gene –> no B cell maturation. X-linked recessive

A

X-linked (Bruton) agammaglobulinemia

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2
Q
  • Recurrent bacterial and enteroviral infections after 6 months (loss of maternal IgG); GIARDIA
A

X-linked (Bruton) agammaglobulinemia

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3
Q
  • absent CD19+ B cells, decreased pro-B, decreased Ig of all classes; absent/scanty lymph nodes and tonsils
A

X-linked (Bruton) agammaglobulinemia

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4
Q

Most common primary immunodeficiency

A

Selective IgA deficiency

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5
Q

Anaphylaxis after transfusion

A

Selective IgA deficiency

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6
Q

5 As of selective IgA deficiency

A
  • majority Asymptomatic
  • Airway and GI infxns
  • Autoimmune
  • Atopy
  • Anaphylaxis
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7
Q

Defect in B cell differentiation, many causes

A

Common variable immunodeficiency

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8
Q

Can be acquired in 20s-30s (!)l increased risk of autoimmune disease, bronchiectasis, lymphoma, sinopulmonary infections

A

Common variable immunodeficiency

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9
Q

lab findings in selective IgA deficiency

A

IgA < 7 mg.dL with normal IgG and IgM levels

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10
Q

lab findings in common variable immunodeficiency

A

decreased plasma cells and immunoglobulins

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11
Q

Bruton is due to a defect in what gene?

A

BTK, a tyrosine kinase, that contributes to B cell maturation

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12
Q

22q11 deletion; failure to develop 3rd and 4th pharyngeal pouches –> absent thymus and parathyroids

A

DiGeorge

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13
Q
  1. Tetany
  2. recurrent viral/fungal infections
  3. conotruncal abnormalities
A

DiGeorge

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14
Q

Why do people with DiGeorge get tetany?

A

Hypocalcemia (low PTH)

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15
Q

Why do people with DiGeorge get recurrent viral/fungal infections

A

T cell deficiency

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16
Q

What types of conotruncal abnormalities might you see in DiGeorge?

A

Tetralogy of Fallot,

Truncus arteriosus

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17
Q

Lab tests of DiGeorge

A
  • Decreased T cells, PTH, and calcium
  • Absent thymic shadow on CXR
  • 22q11 deletion detected by FISH
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18
Q

What do lymph nodes lack in Bruton?

A

Germinal centers

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19
Q

Disseminated mycobacterial and fungal infections; may present after administration of BCG vaccines

A

IL-12 receptor deficiency

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20
Q

How is IL-12 receptor deficiency inherited?

A

autosomal recessive

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21
Q

What are the labs/pathophys of IL12 deficiency?

A

Decreased IL12 –> decreased Th1 –> decreased IFN-gamma

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22
Q

Deficiency of Th17 cells due to STAT3 mutation –> impaired recruitment of neutrophils to sites of infection

A

Hyper IgE (autosomal dominant)

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23
Q

Presentation of Hyper IgE (FATED)

A 
coarse Facies
cold (non inflamed) staph Abscesses
retained primary Teeth
increased igE
Dermatologic problems (eczema)
24
Q

Lab findings of hyper IgE

A

increased IgE and decreased IFN-gamma

25
Q

T cell dysfunction; many causes

A

chronic mucocutaneous candidiasis

26
Q

noninvasive candida albicans infections of skin and mucous membranes

A

chronic mucocutanous candidiasis

27
Q

labs/findings of chronic mucocutaneous candidiasis

A
  • absent in vitro T cell proliferation in response to Candida antigens
  • Absent cutaneous reaction to Candida
28
Q

Three B cell (only) disorders

A
  • Bruton
  • Selective IgA deficiency
  • Common variable immunodeficiency
29
Q

Four T cell (only) disorders

A
  • DiGeorge
  • IL-12 receptor deficiency
  • Hyper IgE
  • Chronic mucocutaneous candidiasis
30
Q

Two types of SCID

A
  • Defective IL-2R gamma chain (x-linked)

- adenosine deaminase deficiency (AR_

31
Q

Failure to thrive ,chronic diarrhea, thrush. Recurrent viral, bacterial, fungal, and protozoal infections

A

SCID

32
Q

tx SCID

A

bone marrow transplant (no concern for rejection)

33
Q

Findings in SCID

A
  • decreased TRECS (T cell receptor excision circles)
  • absence of thymic shadow on CXR
  • absence of germinal centers on lymph node biopsy
  • absence of T cells on flow cytometry
34
Q

Defects in ATM gene –> DNA double strand breaks –> cell cycle arrest

A

Ataxia-telangiectasia

35
Q

Ataxia (cerebellar atrophy) + telangiectasias + infxns (lymphopenia)

A

Ataxia-telangiectasia

36
Q

Findings in ataxia-telangiectasia

A

Increased AFP
Decreased IgA, IgG, and IgE
Lymphopenia, cerebellar atrophy

37
Q

What causes hyper IgM?

A

Defective CD40L on Th cells = class switching defect

38
Q

how is hyper IgM inherited

A

x-linked recessive

39
Q

Severe pyogenic infections early in life; opportunistic infection with Pneumocystis, Cryptosporidium, CMV

A

Hyper IgM

40
Q

findings in hyper IgM

A

increased IgM
decreased IgG, IgA, IgE
large tonsils and lymph nodes

41
Q

where is the mutation in wiskott aldrich?

A

WAS

42
Q

pathophys of wiskott aldrich

A

WAS mutation –> T cell sun able to reorganize actin cytoskeleton

43
Q

Triad of wiskott-aldrich

A

Thrombocytopenia purpura, eczema, recurrent infxns

44
Q

increased risk of what in wiskott aldrich?

A

autoimmune disease and malignancy

45
Q

Labs in Wiskott Aldrich

A

Decreased to normal: IgG, IgM
Increased IgE and IgA
Fever and smaller platelets

46
Q

Defect in LFA-1 integrin (CD18) protein on phagocytes; impaired migration and chemotaxis; autosomal recessive

A

leukocyte adhesion deficiency

47
Q

recurrent bacterial skin and mucosal infections, absent pus formation, impaired wound healing, delayed separation of the umbilical cord (>30 days)

A

leukocyte adhesion deficiency

48
Q

findings in leukocyte adhesion deficiency (type 1)

A

increased neutrophils, absence of neutrophils at infection sites

49
Q

defect in lysosomal trafficking regulator gene (LYST); microtubule dysfunction in phagolysosome fusion; autosomal recessive

A

Chédiak-Hisgashi syndrome

50
Q
  • Recurrent pyogenic infections by staph and strep,
  • partial albinism,
  • peripheral neuropathy,
  • progressive neurodegeneration,
  • infiltrative lymphohistiocytosis
A

Chédiak-Higashi syndrome

51
Q

Findings in Chédiak-Higashi

A
  • Giant granules in neutrophils and platelets
  • Pancytopenia
  • Mild coagulation defects
52
Q

Defect of NADPH oxidase –> decreased ROS (superoxide) and absent respiratory burst in neutrophils; x-linked recessive

A

Chronic granulomatous disease

53
Q

increased susceptibility to catalase positive organisms

A

Chronic granulomatous disease

54
Q

catalase positive organisms

A

PLACESS

  • pseudomonas
  • listeria
  • aspergillus
  • candida
  • e coli
  • staph aureus
  • serratia
55
Q
  • abnormal dihydrorhodamine test (flow cytometry)

- nitroblue tetrazolium dye reduction is negative

A

CGD

FA Immuno (2 decks)

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