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Path - Immunology > Primary Immune Deficiencies > Flashcards

Primary Immune Deficiencies Flashcards

1
Q

What re the 4 categories causing secondary immunodeficiency?

A

M DIB

Malignancy - myeloma, leukaemia, lymphoma
Drugs - corticosteroids, immunosuppressants, cytotoxic agents
Infection - HIV, measles, MT
Biochem disorders - malnutrition, mineral deficiencies (zinc, iron), renal impairment

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2
Q

Clinical features of immunodeficiency

A

TWO major
OR
One major + recurrent minor infections in one year

Unusual organisms 
Unusual sites 
Unresponsive to treatment 
Chronic infections
Early structural damage
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3
Q

What fails in reticular disgenesis?

A

Failure of stem cells to differentiate along myeloid/lymphoid lineages

so failure of neutrophils to differentiate

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4
Q

What are two specific failures of neutrophil maturation?

A

Kostmann syndrome: AR congenital severe neutropenia

Cyclic neutropenia: AD episodic neutropenia, occurs every 4-6 weeks

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5
Q

What occurs in Leukocyte adhesion Deficiency?

what is the specific CD molecule that is lacking?

A

Deficiency in CD18

Normally: CD18 + CD11 = LFA1&raquo_space; LFA1 binds to ICAM1 to regulate neutrophil adhesion

Lack of CD18 means neutrophils cannot enter tissues

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6
Q

What do people with Leukocyte Adhesion Deficiency present with?

A

High neutrophil count in blood

No pus formation

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7
Q

What is chronic granulomatous disease?

A

Deficiency in NADPH oxidase components > inability to generate free radicals > impaired killing

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8
Q

What does chronic granulomatous disease present with?

A

Excessive inflammation (neutrophil, macrophage accumulation)
Granuloma formation
Lymphadenopathy
Hepatosplenomegaly

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9
Q

What is cytokine deficiency?

A

Normally IL12 - IL12 Receptor > stimulate T cells > produce INF gamma > stimulates macrophages > produce INF alpha, free radicals

Cytokine deficiency is deficiency of any of these components (IL12, IL12R, INFg, INFgR)

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10
Q

What immune structure is particularly vulnerable with cytokine deficiency?

A

Macrophages

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11
Q

What kind of infections are common with cytokine deficiency?

A

atypical mycobacterial infection

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12
Q

What are the two tests for chronic granulomatous disease?

A
  • Nitroblue Tetrazolium (NBT) > changes from yellow to blue

- Dihydrorhodamide (DHR) > turns fluorescent

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13
Q

In summary, what are the four key types of phagocyte deficiency?

A

Kostmann Syndrome
Leukocyte Adhesion Deficiency
Chronic Granulomatous Disease
IL12/INFg pathway deficiency

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14
Q

What is the aggressive management for phagocyte deficiency?

A 
Infection prophylaxis (antibiotics, antifungals) 
Oral/IV antibiotics as needed
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15
Q

What is definitive therapy for phagocyte deficiency?

A

Hfaematopoeic stem cell transplant

INF-gamma therapy for chronic granulomatous disease

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16
Q

What are the two key types of NK cell deficiency?

A

Classical NK deficiency: absence of NK cells in peripheral blood

Functional NK deficiency: NK cells present, but function abnormal

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17
Q

What risk do NK cell deficiencies lead to?

A

VIRAL INFECTION risk

e.g. HSV, EBV, CMV, HPV

18
Q

What is treatment for NK cell deficiency?

A

Prophylactic antiviral drug e.g. acyclovir
Cytokines e.g. INFalpha to stimulate NK function
Hfaematopoeic SC transplant

19
Q

How does Kostmann present on FBC?

A

NO neutrophils

20
Q

How does Kostmann present symptomatically?

A

Recurrent infections

21
Q

How does IFNgdeficiency present on FBC?

A

Normal

22
Q

What infections does complement deficiency predispose to?

A

Bacterial infections NHS

  • Neisseria meningitis
  • Haemophilius influenza
  • Strep pneumonia
23
Q

What does classical pathway complement deficiency result in the deposition of?

A

Deposition of immune complexes

Causing local inflammation of skin, joints, kidneys

24
Q

Why does complement deficiency cause immune complex deposition?

A

Because deficiency means ineffective clearance of necrotic cells, increasing self antigens
These self antigens promote autoimmunity and immune complex formation

25
Q

What is the most common type of complement deficiency?

A

C2

26
Q

What disease does C2 deficiency cause?

A

SLE

27
Q

Is MBL deficiency associated to immunodeficiency?

A

No

28
Q

What does C1q deficiency present as?

A

Inherited complement deficiency

Presents as SLE in childhood

29
Q

What is CH50 like in someone with C1q deficiency?

A

LOW

30
Q

What is CH50?

A

Test of the classical pathway

Tests activity of C1-C9

31
Q

What does AP50 test?

A

Tests the alternate pathway

So activity of B, D, properdin, C3, C5-9

32
Q

What are test results like in someone with C7 or C9 deficiency?

A

Both CH50 and AP50 will be low

Because defect is in COMMON PATHWAY

33
Q

What is C4 like in acquired SLE?

A

LOW

34
Q

How do we manage complement deficiencies?

A

Vaccinations
Prophylactic antibiotics
Treat infection aggressively
Screen family members

35
Q

Summarise C1q deficiency

A

Severe childhood onset SLE with normal C3, C4 levels

36
Q

Summarise C3 deficiency with nephritic factor

A

membranoproliferative nephritis, abnormal fat distribution (lipodystrophy)

37
Q

Summarise C7 deficiency presentation

A

meningococcal meningitis

history of sibling dying at 67yo

38
Q

MBL deficiency

A

Recurrent infections with neutropenia following chemo

Previously well

39
Q

what deficiency causes inherited SLE in childhood?

A

C1q deficiency

40
Q

what is the state of other complements and CH50, AP50 in C1q deficiency

A

C3,C4 normal
Low CH50
AP50 normal

Path - Immunology (11 decks)

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