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Immune deficiencies Flashcards

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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)

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

Lab findings of hyper IgE

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A

increased IgE and decreased IFN-gamma

25
T cell dysfunction; many causes
chronic mucocutaneous candidiasis
26
noninvasive candida albicans infections of skin and mucous membranes
chronic mucocutanous candidiasis
27
labs/findings of chronic mucocutaneous candidiasis
- absent in vitro T cell proliferation in response to Candida antigens - Absent cutaneous reaction to Candida
28
Three B cell (only) disorders
- Bruton - Selective IgA deficiency - Common variable immunodeficiency
29
Four T cell (only) disorders
- DiGeorge - IL-12 receptor deficiency - Hyper IgE - Chronic mucocutaneous candidiasis
30
Two types of SCID
- Defective IL-2R gamma chain (x-linked) | - adenosine deaminase deficiency (AR_
31
Failure to thrive ,chronic diarrhea, thrush. Recurrent viral, bacterial, fungal, and protozoal infections
SCID
32
tx SCID
bone marrow transplant (no concern for rejection)
33
Findings in SCID
- 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
Defects in ATM gene --> DNA double strand breaks --> cell cycle arrest
Ataxia-telangiectasia
35
Ataxia (cerebellar atrophy) + telangiectasias + infxns (lymphopenia)
Ataxia-telangiectasia
36
Findings in ataxia-telangiectasia
Increased AFP Decreased IgA, IgG, and IgE Lymphopenia, cerebellar atrophy
37
What causes hyper IgM?
Defective CD40L on Th cells = class switching defect
38
how is hyper IgM inherited
x-linked recessive
39
Severe pyogenic infections early in life; opportunistic infection with Pneumocystis, Cryptosporidium, CMV
Hyper IgM
40
findings in hyper IgM
increased IgM decreased IgG, IgA, IgE large tonsils and lymph nodes
41
where is the mutation in wiskott aldrich?
WAS
42
pathophys of wiskott aldrich
WAS mutation --> T cell sun able to reorganize actin cytoskeleton
43
Triad of wiskott-aldrich
Thrombocytopenia purpura, eczema, recurrent infxns
44
increased risk of what in wiskott aldrich?
autoimmune disease and malignancy
45
Labs in Wiskott Aldrich
Decreased to normal: IgG, IgM Increased IgE and IgA Fever and smaller platelets
46
Defect in LFA-1 integrin (CD18) protein on phagocytes; impaired migration and chemotaxis; autosomal recessive
leukocyte adhesion deficiency
47
recurrent bacterial skin and mucosal infections, absent pus formation, impaired wound healing, delayed separation of the umbilical cord (>30 days)
leukocyte adhesion deficiency
48
findings in leukocyte adhesion deficiency (type 1)
increased neutrophils, absence of neutrophils at infection sites
49
defect in lysosomal trafficking regulator gene (LYST); microtubule dysfunction in phagolysosome fusion; autosomal recessive
Chédiak-Hisgashi syndrome
50
- Recurrent pyogenic infections by staph and strep, - partial albinism, - peripheral neuropathy, - progressive neurodegeneration, - infiltrative lymphohistiocytosis
Chédiak-Higashi syndrome
51
Findings in Chédiak-Higashi
- Giant granules in neutrophils and platelets - Pancytopenia - Mild coagulation defects
52
Defect of NADPH oxidase --> decreased ROS (superoxide) and absent respiratory burst in neutrophils; x-linked recessive
Chronic granulomatous disease
53
increased susceptibility to catalase positive organisms
Chronic granulomatous disease
54
catalase positive organisms
PLACESS - pseudomonas - listeria - aspergillus - candida - e coli - staph aureus - serratia
55
- abnormal dihydrorhodamine test (flow cytometry) | - nitroblue tetrazolium dye reduction is negative
CGD

FA Immuno (2 decks)

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