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Path guide Immuno > Immune Deficiencies > Flashcards

Immune Deficiencies Flashcards

1
Q

Summarise primary phagocyte deficiencies

A
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2
Q

Summarise primary complement deficiencies

A
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3
Q

Summarise primary T cell deficiencies

A
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4
Q

Summarise primary B cell deficiencies

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5
Q

Most severe form of SCID

A

Reticular dysgenesis (Autosomal Recessive)

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6
Q

Mutation for Reticular dysgenesis

A

Mutation in mitochondrial energy metabolism enzyme adenylate kinase 2 (AK2)

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7
Q

Mutation for classical Kostmann syndrome

A

HCLS1-associated protein X-1 (HAX1)

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8
Q

Mutation for cyclic neutropenia

A

Neutrophil elastase (ELA-2)

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9
Q

Pathophysiology of Leukocyte adhesion deficiency

A

No CD11a/CD18 and CD11b/CD18 → failure to bind to ligands on endothelial cells → failure of neutrophil adhesion/transmigration → neutrophil accumulation in blood

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10
Q

Specific deficiency in LAD1

A

CD18 deficiency (b2 integrin subunit)

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11
Q

Features of LAD

A

High neutrophils
Absence of pus formation
Delayed umbilical cord separation

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12
Q

Pathophysiology of CGD

A

Absent resp burst - NADPH oxidase deficiency
→Excessive inflammation

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13
Q

Features of CGD

A

Granuloma formation
Lymphadenopathy
hepatosplenomegaly

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14
Q

What bacteria are CGD patients susceptible to?

A

Catalase positive - PLACESS

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15
Q

PLACESS bacteria

A
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16
Q

CGD Ix

A

NBT - negative - stays yellow
DHR - negative - no fluorescence

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17
Q

CGD Mx

A

IFN-gamma

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18
Q

Pathophysiology of opsonisation defects

A

Prevent endocytosis and lysozyme formation

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19
Q

Normal IL-12 IFN-gamma network

A

Infected macrophage → IL-12 → T cells secrete IFN-gamma → feeds back to phagocytes → TNF production → NADPH oxidase activation → oxidative pathway stimulation

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20
Q

What bacteria are IL12 and IFN gamma deficiency

A

Mycobacteria, BCG, Salmonella

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21
Q

What can you not form with IL12/IFNgamma deficiency?

A

Granulomas

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22
Q

What type of bacteria are people with Complement deficiencies more susceptible to?

A

Encapsulated bacteria (NHS)

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23
Q

What factors could be deficient in an alternative complement pathway deficiency and what regulates them?

A

B, D and P
Regulated by factors H and I

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24
Q

What is the pathophysiology of alternative complement pathway deficiency and Factor P deficiency?

A

Can’t quickly mobilise complement
Properdin (Factor P) deficiency → can’t stabilise C3 convertase → no MAC

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25
Q

Pathophysiology of primary classical (C1/2/4) deficiency

A
  1. Immune complexes don’t activate complement pathway → infection
  2. Reduced clearance of apoptotic/necrotic cells → self-antigens (usually nuclear components) uncleared → increased risk of SLE (Anti-dsDNA)
  3. Reduced clearance of immune complexes → complex deposition in tissue (skin, joints, kidneys) → local inflammation (severe skin disease)
26
Q

Most common classical pathway deficiency

A

C2

27
Q

What autoimmune disease is associated with C2 deficiency?

A

SLE

28
Q

How is secondary classical pathway deficiency different from primary?

A

In 2ndary: SLE → increased immune complexes → depletion of complement (rather than deficiency)

29
Q

What mutation may cause MBL deficiency?

A

MBL2 - doesn’t cause immunodeficiency

30
Q

When may you get immune deficiency in MBL deficiency?

A

When it is additional to another immune impairment

31
Q

What complement factors are involved in MBL pathway?

A

C2, C4

32
Q

Pathophysiology of primary C3 deficiency

A

Can’t form MAC → increased susceptibility to encapsulated bacteria (NHS)

33
Q

Pathophysiology of secondary C3 deficiency and its associations

A

Nephritic factors stabilise C3 convertase → inappropriate C3 activation and consumption
Associations: glomerulonephritis, lipodystrophy

34
Q

Pathophysiology of final common pathway (C5-9) deficiency

A

No MAC formation → encapsulated bacteria (NHS) infections

35
Q

Very low/absent T cells & NK cells, increased B cells, very low Ig

A

X-linked SCID

36
Q

Unwell by 3 months
Persistent infections of all types
Failure to thrive
Poorly developed lymphoid tissue and thymus
FHx of early infant death

A

SCID clinical phenotype

37
Q

Most common form of SCID

A

X-linked SCID (45%)

38
Q

Genetic pathophysiology of X-linked SCID

A

Mutation - gamma chain of IL2 receptor on Chr Xq13.1
→ receptor shared by IL-2, 4, 7, 9, 15, 21
→ can’t respond to cytokines → 1. early arrest of T&NK cell production, 2. increased production of immature B cells

39
Q

Very low/absent T and NK cell numbers, very low B cell numbers, very low Ig

A

ADA deficiency

40
Q

Pathophysiology of ADA deficiency

A

ADA - enxyme for lymphocyte cell metabolism
Deficiency → can’t respond to cytokines → early arrest of T & NK cell production with NO B cell porduction

41
Q

Features of DiGeorge Syndrome

A

CATCH-22

42
Q

Bare Lymphocyte Syndrome Type 2 pathophysiology

A

Defect in either a) Reg factor X or b) Class II transactivator
→ Absent expression of MHC class II
→ profound CD4+ T cells & failure to make IgG/A (no class switching)

43
Q

Low CD4+, normal CD8+ T cells, normal B cells, normal IgM, low IgG, IgA

A

Bare lymphocyte type II

44
Q

Hyper IgM syndrome genetic pathophysiology

A

Mutation on CD40L gene on Xq26 → No expression of CD40L on activated T cells → failure of B-T cell costimulation → no germinal centre reaction (no isotype class switching) → High IgM, low IgA, IgE, IgG

45
Q

Genetic pathophysiology of Wiskott-Aldrich syndrome

A

Mutation in WAS gene → failure to stabilise T-cell-APC interaction

46
Q

Low IgM
high IgA, E
Low/normal/high IgG
Thrombocytopenia, eczema and lymphopenia triad

A

Wiskott-Aldrich syndrome

47
Q

Genetic pathophysiology of Bruton’s

A

Bruton’s X-linked agammaglobulinaemia
Defective Bruton’s Tyrosine Kinase gene → pre-B cells do not mature → no mature B cells → no circulating Ig after 3 months

48
Q

Most common primary immune deficiency

A

Selective IgA deficiency

49
Q

Clinical phenotype of selective IgA deficiency

A

2/3 asymptomatic
1/3 recurrent resp infections

50
Q

Clinical phenotype of Hyper IgM

A

Boys (X-linked)
failure to thrive in first few years of life
Recurrent infections - bacterial
Pneumocystis Jirovecii, autoimmune disease, malignancy

51
Q

Common variable immunodeficiency description

A

Failure of differentiation/function of B cells
Low IgG + low IgA/M
Poor response to immunisation
No other immune deficiency

52
Q

Clinical features of CVID

A

Recurrent serious bacterial infections
Pulmonary and GI inflammation
Autoimmune disease
Malignancy

53
Q

Phagocyte deficiencies diagnosis

A

Flow cytometry
NBT or DHR

54
Q

Phagocyte deficiencies management

A

Acute: treat infection aggressively
Chronic: Infection prophylaxis
Definitive: HSCT

55
Q

Complement deficiency diagnosis

A

CH50 - classical pathway
AP50 - alternative pathway

56
Q
A
57
Q

Complement deficiency management

A

Vaccination - NHS
ABx prophylaxis
Treat infections early with high suspicion
Screen family

58
Q

Likely infections for T cell deficiency

A
59
Q

Likely infections for antibody/CD4+ T cell deficiency

A
60
Q

Lymphocyte deficiency diagnosis

A
  1. WCC
  2. lymphocyte subsets
  3. Serum Ig and protein electrophoresis
  4. Functional tests
  5. HIV test
61
Q

T cell deficiency management

A

Infection prophylaxis and treatment
Ig replacement
Definitive: HSCT
Experimental: gene therapy, thymic transplant for DiGeorge

62
Q

B cell deficiency management

A

Treat infections aggressively
Ig replacement every 3/52
Bone marrow transplant
Immunisation in selective IgA deficiency

Path guide Immuno (12 decks)

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