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IHO Week 6 > Nelson- Immunodeficiency syndromes > Flashcards

Nelson- Immunodeficiency syndromes Flashcards

1
Q

What is the difference between primary and secondary immunodeficiencies? and what populations do they effect?

A

Primary–almost all geneticall determines (congenital) affect those 6 mos - 2 yrs

Secondary- d/t complications of cancer, infection, malnutrition, immunosuppression, radiation or chemo

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2
Q

What do primary immunodeficiencies affect?

A

T or B cell functions in adaptive immunity (75% of cases)

Defense mechanisms in innate immunity

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3
Q

How are primary immunodeficiencies detected?

A

multiple recurrent infections

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4
Q

What are B cell disorders?

A

Brutons
CVI
IgA def
Hyper-IgM syndrome

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5
Q

Key features: brutons

A

X-linked recessive
Male
Mutated tyrosine kinase (Btk)
Failure of pre-b cells to become MATURE B cells

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6
Q

Clinical features of brutons?

A
  • Typical presentation: sinopulmonary (SP) infections (pharyngitis, otitis media, bronchitis, and pneumonia) to Haemophilus
  • Susceptible to certain GI viruses (enterovirus)
  • Often have persistent Giardia infection (no IgA in GI)
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7
Q

Why does Brutons often present at 6 mos?

A

Maternal Ab protects from birth to 6 mos than Ig decreases

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8
Q

What do you see in the peripheral blood of someone w/ brutons?

A

Decrease/absent B cells and gammaglobulins

No plasma cells

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9
Q

What is the treatment for brutons?

A

prophylactic Ig therapy

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10
Q

Key features: common variable immunodeficiency?

A

Defect in B-cell maturation to plasma cells

Adult disorder–both sexes affected equally

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11
Q

Common clinical sxs of CVI?

A 
Sx similar to agammaglobulinemia:  
SP infections (90-100%), 
GI infections, 
pneumonia, 
autoimmune diseases
malignancy
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12
Q

What is seen in the blood of someone w/ CVI?

A

decreased gammaglobluin production

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13
Q

What are the two forms of CVI and how is it diagnosed?

A

sporadic and inherited

dx of exclusion

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14
Q

Key features: IgA def

A

Failure of IgA B cells to mature into plasma cells

Increases susceptibility to SP infections and diarrhea

Familial or acquired

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15
Q

Clinical features of IgA def?

A
  • Decreased serum and secretory IgA levels
  • Decreased IgA → weaken mucosal defenses → increased SP infxns and diarrhea (Giardia)
  • Particularly prone to infxns if IgG2 and IgG4 deficient
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16
Q

Key features: hyper-IgM syndrome?

A
  • Defect in Ig class switching (Unable to make IgG, IgA and IgE but can make IgM)
  • ~70% have X-linked recessive mutation in gene encoding CD40L (T cell cannot activate B cells)
  • Others have defect in activation-induced deaminase enzyme (AR inheritance)
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17
Q

What is seen in labs of someone w/ hyper IgM syndrome?

A

normal to elevated levels of IgM but no IgA, IgE, and very low IgG; peripheral blood shows normal # of T and B lymphocytes

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18
Q

What illnesses does someone w/ hyper-IgM syndrome have?

A
  • Recurrent pyogenic infections
  • If CD40L mutation → pneumonia (Pneumocystis jiroveci)
  • Increased risk: IgM induced cytopenias (autoimmune hemolytic anemias, thrombocytopenias, neutropenia)
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19
Q

What type of disorder is DiGeorge syndrome?

A

T cell disorder

20
Q

Key features: DiGeorge syndrome?

A
  • Failure of 3rd and 4th pharyngeal pouches to develop
  • Thymus and parathyroid glands fail to develop → deficiency in cell-mediated immunity
  • D/t delection of gene on chrom 22q11 (~90% pts)
  • Susceptible to fungal, viral, pneumocystis jirveci infections
21
Q

What clinical features are associated w/ DiGeorge syndrome?

A
  • Hypoparathyroidism (tetany)
  • Absent thymic shadow on radiograph
  • Danger of GVH rxn
  • Congenital defects of heart and great vessels, facial abnormalities
22
Q

What is seen in the peripheral blood of some one w/ DiGeorge syndrome?

A
  • Low levels of T lymphocytes in peripheral blood

* T cell areas in spleen and lymph nodes depleted

23
Q

What diseases are combined B and T cell disorders?

A

SCID
Wiskott Aldrich syndrome
Chediak HIgashi syndrome

24
Q

What are the two defects that lead to SCID?

A

X-linked mutation in gene encoding γ-chain subunit of cytokine receptor (50-60%) → T cell development impaired → B cell # decreases b/c no T helpers

Autosomal recessive adenosine deaminase (ADA) deficiency (15%) → accumulation of deoxyadenosine (toxic to B and T cells)

25
Q

What are the clinical features of SCID?

A
  • Profound defects in both humoral and cell mediated immunity
  • Extremely susceptible to recurrent, severe infections
26
Q

What is seen in infants w/ SCID?

A

Infants: thrush, extensive diaper rash, failure to thrive

27
Q

What is the tx for combined B and T cell disorders?

A

bone marrow transplant

28
Q

What is the defect associated w/ Wiskott aldrich syndrome? Inheritance?

A

Mutation in Wiskott-Aldrich syndrome protein (WASP) → variable loss of cell-mediated immunity

Progressive deletion of B and T cells

X-linked recessive disorder

29
Q

What is the sx triad for wiskott aldrich syndrome?

A

eczema, thrombocytopenia, SP infections

Increased risk for hodgkin B cell lymphoma

30
Q

What is seen in the blood of someone with wiskott aldrich syndrome?

A

Decreased IgM
normal IgG
increased IgA and IgE

31
Q

What is the defect in chediak higashi syndrome? Inheritance?

A

Mutation in CHS1/LYST (member of vesicle trafficking regulatory protein family) → defective fusion of phagosomes and lysosomes in phagocytes → increased susceptibility to infxn

autosomal recessive

32
Q

What are the clinical features of chediak higashi syndrome?

A 
Recurrent pyogenic infections
albinism
progressive neurologic abnormalities
mild 
coagulation defects
33
Q

How do you dx chediak higashi syndrome?

A

giant cytoplastmic
granules in leukocytes and
platelets (but confirmed w/
genetic testing)

34
Q

What are the clinical features of immunodeficiency diseases associated w/ the early classical complement pathway?

A

Little or no increase in susceptibility to infections but increased incidence of an SLE-like autoimmune disease

35
Q

What are the clinical features of immunodeficiency diseases associated w/ the alternate pathway (properdin and factor D)?

A

pyogenic infections (rare)

36
Q

What are the clinical features of immunodeficiency diseases associated w/ C3 (classical and alternative)?

A

susceptibility to serious and recurrent pyogenic infections

increased immune complex-mediated glomerulonephritis

37
Q

What are the clinical features of immunodeficiency diseases associated w/ the terminal components of the complement pathway (C5-C9)?

A

Recurent neisserial infections d/t impaired MAC function

38
Q

What are the common causes of secondary immunodeficiency?

A 
Immunosuppressive meds
Microbial infection
Autoimmune disease
Severe burn injury
Radiation, toxic chemicals
asplenia/hyposplenism
aging
39
Q

What type of infection are pts w/out a spleen at risk for and why?

A

Loss of splenic macrophages after splenectomy>
increased risk of bacterial infection w/ encapsulated organisms

(S. Pneumonia, H.influena, N. meningitides)

40
Q

What are the three ways that one could suspect that a pt has immunodeficiency?

A

Clinical hx

pt presents w/ signature opportunistic infection (pneumonia, prolonged/severe oral candidiasis, invasive aspergillus)

Repeated infections or suggestive sxs

41
Q

What are the initial labs you would order to assess B cell funciton, T cell function and phagocytic function and complement?

A

CBC w/ diff- decrease in lymphocytes/neutrophils
blood chemistries (CMP)- diabetes, kidney, liver disease
urinalysis- renal disease
sed rate, CRP- inflammmatory state

42
Q

Labs for antibody deficiencies are assessing…

A

B cell function

Ig levels

43
Q

Flow cytometry and skin testing are assessing…

A

T cell function,

cutaneous delayed-type hypersensitivity response (if do skin testing w/ candida Ag)

44
Q

CBC
peripheral smear
genetic tests, specific tests of neutrophil function

are assessing…

A

Phagocytic disorders (giant azurophilic granules in neutrophils, eosinophils, and other granulcytes indicate Chediak-Higashi syndrome)

45
Q

Total serum complement (CH50) assesses…

A

Complement activity

IHO Week 6 (14 decks)

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