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Pathology by week > W10 - Primary immunodeficiency part 1 > Flashcards

W10 - Primary immunodeficiency part 1 Flashcards

1
Q

Immunodeficiencies are classified into 3 types - name them.

A
  1. Primary (inherited)
  2. Secondary (acquired)
  3. Physiological
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2
Q

Give 3 examples of physiological immunodeficiency

A
  1. Neonates
  2. Older age
  3. Pregnant
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3
Q

Give 3 laboratory tests to order when suspecting primary immunodeficiency

A
  1. FBC - WBC + lymphocyte subsets, special tests for white cell migration/function
  2. Immunoglobulins - IgM, IgG, IgA, specific Igs and response to vaccination
  3. Complement - complement function, individual components
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4
Q

What are the two broad categories of primary immunodeficiency?

A
  • Deficiencies in the INNATE immune system
  • Deficiencies in the adaptive immune system
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5
Q

Name the 4 types of phagocyte deficiency

A
  1. Failure to produce neutrophils:
    - Reticular dysgenesis
    - Kostmann syndrome
    - Cyclic neutropenia
  2. Defect of phagocyte migration:
    - Leukocyte adhesion deficiency
  3. Failure of oxidative killing mechanisms:
    - Chronic granulomatous disease
  4. Cytokine deficiency:
    - IL12, IL12-R, IFN-gamma, IGN-g-R deficiency
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6
Q

Inheritance mode of reticular dysgenesis?
- what is the underlying problem?

A

Autosomal recessive SEVERE SCID
- failure of HSCs to differentiate along myeloid and lymphoid lineage

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7
Q

Inheritance mode of Kostmann syndrome?
- what is the underlying problem?

A

Autosomal recessive severe congenital neutropenia
- specific failure of neutrophil maturation

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8
Q

Inheritance mode of Cyclic neutropenia?
- what is the underlying problem?

A

Autosomal dominant
- episodic neutropenia every 4-6 weeks

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9
Q

What is the underlying problem in leukocyte adhesion deficiency?

A

neutrophils do not express CD18, which is needed to bind to ICAM-1 on endothelial cells for transmigration = HIGH NEUTROPHIL COUNTS in blood, absence of pus formation

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10
Q

What is the underlying problem in Chronic Granulomatous Disease?

A

Failed oxidative killing due to deficiency in a component of NADPH oxidase => impaired killing => persistent neutrophils/macrophages accumulation =>

  1. granuloma formation
  2. lymphadenopathy
  3. hepatosplenomegaly
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11
Q

What are 2 investigations you could use to test for chronic granulomatous disease? Explain the results

A
  1. Nitroblue tetrazolium (NBT) test
    - activate neutrophils => stimulate respiratory burst => production of hydrogen peroxide => NBT dye changes from yellow to blue
  2. Dihydrorhodamine (DHR) flow cytometry test
    - as above => DHR is oxidised to rhodamine which is GREEN fluorescent
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12
Q

What is the underlying problem in cytokine deficiency?

A

IL-12 - IFN-g are an important network in control of mycobacteria infection. therefore here, there is lack of stimulation to activate macrophages, and patients present with atypical mycobacteria infections

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13
Q

What are the 2 typical presentations in phagocyte deficiencies?

A
  • b/c they are needed for our “initial” immunity against pathogens, they present with:
    1. recurrent infections = skin/mouth:
  • bacterial => staph aureus, enteric
  • fungal => candida, aspergillus
  1. Mycobacterial infections => TB, atypical mycobacteria
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14
Q

Complete the table

A
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16
Q

Describe immediate treatment of phagocyte deficiencies

A
  1. Infection prophylaxis
    - Abx: e.g., Septrin (Trimethoprim / Sulfamethoxazole)
    - Anti-fungals: e.g., Itrazonacole
  2. Oral/IV abx as needed
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17
Q

Describe definitive therapy for phagocyte deficiency

A
  1. Haematopoietic stem cell transplantation
    - replace defective population
  2. Specific treatment for CGD = Interferon gamma therapy
18
Q

What are the 2 classes of NK cell deficiencies - explain the difference

A
  1. Classical NK deficiency = absence of NK cells within peripheral blood
  2. Functional NK deficiency = NK cells present but function is ABNORMAL
19
Q

How do NK cell deficiencies typically present?

A

NK cells typically help eliminate virally-infected cells and malignant cells. Therefore:

1) Viral infections:
- Herpes virus infections:

Herpes simplix virus I and II

Varicella Zoster virus

EBV

CMV

  • Papillomavirus infection
    2) Malignancy
  • Papillomavirus-associated cancers
20
Q

How do we treat (3) NK deficiencies?

A
  1. Prophylactic antiviral drugs (acyclovir)
  2. Cytokine i.e. IFN-a to stimulate NK cytotoxic function
  3. HSCT in severe phenotypes
    - essentially, no good trial data available
21
Q

recurrent infections with high neutrophil count on FBC but no abscess formation. what is the cause?

A

leukocyte adhesion deficiency

22
Q

child with recurrent infections with hepatosplenomegaly and abnormal dihydrohodamine test (does not fluoresce). what disease is it?

A

chronic granulomatous disease

23
Q

Recurrent infections with no neutrophils on FBC - what is the diagnosis?

A

Kostmann syndrome

24
Q

Infection with atypical mycobacterium, normal FBC - what is the diagnosis?

A) Kostmann syndrome

B) Leukocyte adhesion deficiency

C) Chronic granulomatous disease

D) IFN-gamma receptor deficiency

A

D) IFN-gamma receptor deficiency

25
Q

Severe chicken pox, disseminated CMV infection - what immunodeficiency is it?

A

Classical NK cell deficiency

26
Q

What pathogens does one become susceptible to with complement deficiency?

A

NHS = 3 encapsulated bacteria:

  1. Neisseria meningitides (esp with properidin and C5-9 deficiency)
  2. Haemophilus influenzae
  3. Streptococcus pneumoniae
27
Q

For classical pathway deficiency, explain:

A) which factors may be deficient

B) underlying issues

C) any associated diseases

A

A) C2, C1q

B) failure of phagocytosis of dead cells = increased nuclear debris

B) failure to clear immune complexes = immune complex deposition in blood vessels

C) SLE

C) increase susceptiblity to encapsulted bacterial infections (NHS)

28
Q

For MBL deficiency, explain:

A) which factors may be deficient

B) underlying issues

C) any associated diseases

A

A) MBL

B) nil - usually is not associated with immunodeficiency

C) None

29
Q

Explain how complement deficiency and SLE could effect each other in 2 opposite directions

A

1. Complement deficiency first

Deficiency of early component of complement (usually C1q and C2) => you dont phagocytose your dead cells and you get a lot of nuclear debris
you put yourself at danger of making abs to those molecules, such as ANA, anti-dsDNA = SLE

2. Active SLE first

active lupus causes persistent production of immune complexes and consequent consumption of complement (C3 and C4) => functional complement deficiency

30
Q

Describe C3 nephritic factors

A

nephritic factors are auto-abs directed against components of the complement pathway

nephritic factors stabilise C3 convertase => C3 activation + consumption

31
Q

What is C3 nephritic factors associated with (2 things)

A
  • glomerulonephritis
  • partial lipodystrophy (lose fat from their upper bodies, and not their lower bodies)
32
Q

Complete the chart

A
33
Q

What investigations (3) can be undertaken if we suspect complement pathway deficency?

A
  1. C3, C4 routinely measured
    - other component not routinely checked but can be checked if suspected deficiency
  2. CH50 = classical pathway test
  3. AP50 = alternative pathway test
35
Q

Describe management (4) of patients with complement deficiencies

A
  1. Vaccination
    - Meningovax
    - Pneumovax
    - HIB vaccines
  2. Prophylactic abx
  3. Treat infections aggresively
  4. Screening of family members
36
Q

meningococcus meningitis with family history of sibling dying of same condition aged 6.
no features of SLE, no proteinuria, normal fat distribution. which deficiency do they have?

  • C1q deficiency
  • C3 deficency with presence of a nephritic factor
  • C7 deficiency
  • MBL deficiency
A

C7 deficiency

  • complement deficiency in properidin and C5-9 deficiency increases susceptilibility to Neisseria meningitides (As part of 3 encapsulated bacteria group, NHS)
37
Q

9 year old girl with severe SLE And normal C3 and C4. Which is the most likely complement deficiency?

  • C1q deficiency
  • C3 deficiency with presence of a nephritic factor
  • C7 deficiency
  • MBL deficiency
A

C1q deficiency

Pathology by week (70 decks)

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