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SFM - Biochem - Final > (L27) Primary Immunodeficiencies > Flashcards

(L27) Primary Immunodeficiencies Flashcards

1
Q

What are the types of primary immunodeficiencies?

L27 S4

A

Innate:

  • phagocytosis
  • complement

Adaptive:

  • B cells (antibodies)
  • T cells
  • combined T and B cells (CD4+ related)
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2
Q

What are possible indicators of immunodeficiency?

L27 S5

A
  • 8+ ear infections/year
  • 2+ sinus infections/year
  • 2+ pneumonias/year
  • 2+ deep-seated infections or infections in unusual areas
  • recurrent abscesses
  • need for IV antibiotic therapy
  • opportunistic or unusual infections
  • family history

Don’t memorize these, just understand why it might be an indicator

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3
Q

What immunodeficiency is infection with bacterial meningitis possibly indicative of?

L27 S7

A

Complement deficiency

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4
Q

What tests are used to test for T cell defects, humoral immunodeficiency, complement deficiency, and phagocytic disorders?

L27 S8

A

T cell:
-delayed-type hypersensitivity (DTH) skin test

Humoral immunodeficiency:

  • serum IgG, IgM, and IgA
  • specific Ab following immunization

Complement:
-hemolytic assay

Phagocytic:
-nitroblue tetrazolium (looks for oxidative activity)

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5
Q

What is adenosine deaminase (ADA) deficiency?
What is its immunophenotype and what Abs are made?

L27 S14

A 
T-, B-, NK-
Low Abs (all types)

Autosomal recessive

Enzyme clears deoxyadenosine from purine metabolism which is toxic to lymphocytes

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6
Q

What is purine nucleotide phosphorylase (PNP) deficiency?
What is its immunophenotype and what Abs are made?

L27 S15

A

T-, B+, NK+/-
Normal Abs

Autosomal recessive

Enzyme clears deoxyguanosine which is toxic to T cells at high levels

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7
Q

What is Artemis deficiency?
What is its immunophenotype and what Abs are made?

L27 S16

A 
T-, B-, NK+
Low Abs (all types)

Autosomal recessive (radiosensitive)

Presents in infancy with diarrhea, candidiasis, and fungal pneumonia.

Artemis gene product involved in ligation of hairpin loops in V(D)J recombination

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8
Q

What is RAG1/RAG2 deficiency?
What is its immunophenotype and what Abs are made?

L27 S17

A 
T-, B-, NK+
Low Abs (all types)

RAG1/RAG2 crucial in V(D)J recombination for TCR and BCR

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9
Q

What is Jak3 deficiency?
What is its immunophenotype and what Abs are made?

L27 S18

A 
T-, B+, NK+
Low Abs (all types)

Causes defect in IL-2 signaling which is required for T cell survival and activity

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10
Q

What is Omenn syndrome?

L27 S17

A

Due to partial function of RAG1/RAG2

Characterized by:

  • severe erytrhoedema
  • splenomegaly
  • eosinophilia
  • high IgE
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11
Q

What is HSCT and how can it be used to treat certain immunodeficiencies?

L27

A

Hematopoietic stem cell transplant

Can be used in deficiencies where there are genetic defects in immune cells, or their precursors, that derived from bone marrow.

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12
Q

What is primary agammaglobulinemia? What is its immunophenotype and what Abs are made?

L27 S20

A 
T+, B-, NK+
Low Abs (all types)

Caused by arrest of B cell development at pre-B cell resulting in low or absent circulating B cells

X-linked and autosomal recessive variants

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13
Q

What is X-linked Btk kinase deficiency?
What is its immunophenotype and what Abs are made?

L27 S21

A 
T+, B-, NK+
No Abs (all types)

X-linked

Defect in rearrangement of Ig heavy chain in B cells

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14
Q

What IgG subclass deficiencies are there and what are the associated symptoms?

L27 S22

A

IgG2:
-poor polysaccharide response

IgG4:
-minimal symptoms

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15
Q

What is IgA deficiency?
What is its immunophenotype and what Abs are made?

L27 S24

A

T+, B+, NK+
No IgA, normal IgG and IgM

Various methods that either result in faulty maturation of IgA secreting plasma cells or formation of anti-IgA IgG

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16
Q

What is DiGeorge syndrome?
What is its immunophenotype and what Abs are made?

L27 S26

A 
T-, B+, NK+
Normal Abs (all types)

Mostly occurs due to microdeletion of 22q11.2 which results in hypoplasic thymus preventing T cell development

17
Q

What is hyper IgM (HIGM) syndrome?
What types are there?
What is its immunophenotype and what Abs are made?

L27 S28

A

T+, B+, NK+
-high IgM, low IgG and IgA

Inability to class switch due to lack of CD40L (X-linked)

Inability to class switch due to CD40 (autosomal recessive)

18
Q

What is transient hypogammaglobulinemia?
What is its immunophenotype and what Abs are made?

L27 S32

A

T+, B+, NK+
Normal IgM, low IgG and IgA

Delay of infant production of IgG/IgA for up to 36 months after birth

19
Q

What is common variable immune deficiency (CVID)?
What is its immunophenotype and what Abs are made?

L27 S34

A

T+, B+/-, NK+
Low IgG and IgA, sometime low IgM

Group of conditions that result in hypogammaglobulinemia

Symptoms at 4-5 diagnosed at 20-30

20
Q

What is common γ chain deficiency?

L38 S38

A

No T cells or NKs
B cells present but don’t produce Ig

X-linked

T cells lack γ chain of IL-2R and are unable to activate B cells

21
Q

What is IL-7R α chain deficiency?

L38 S39

A

No T cells or NK cells
B cells present but don’t produce Ig

Autosomal recessive

Failure of early T cell development due to unreactiveness to IL-7. B cells inactive due to lack of costimulation

22
Q

What is bare lymphocyte syndrome type 2?

L27 S40

A

No CD4+ T cell cells

Lack of MHC class II on APCs due to lack of transcription factors

23
Q

What is MHC class I deficiency?

L27 S41

A

No CD8+ cells

Lack of TAP1 gene preventing loading of MHC class I

24
Q

What is CD3 complex deficiency?

L27 S42

A

No T cells
B cells present but low Ig

T cells unable to generate signal from antigen binding TCR due to CD3 subunit deficiency

25
Q

What occurs in result of a defect in IL-12 and IFN-γ pathway?

L27 S43-44

A

IL-12 produced by Mφ and DCs and induced Th1 differentiation and release of IFN-γ

Susceptibility to intracellular infections

26
Q

What is Th17 deficiency?

L27 S45

A

Failure in Th17 differentiation due to IL-17, IL-17R, STAT1, STAT3, or AIRE defects

Recurrent fungal infections

27
Q

What is IPEX?

L27 S46

A

Immunodysregulation, polyendocrinopathy, and enteropathy X-links syndrome

Self reactive T cells are not deleted due to mutation of FOXP3 gene resulting in no generation of Treg cells

28
Q

What is ALPS?

L27 S46

A

Autoimmune lymphoproliferative syndrome (ALPS)

Defect in Fas, FasL, caspase-8 or caspase-10 resulting in resistance to T cell induced apoptosis

29
Q

What is WAS?

L27 S47

A

No T cells or NK cells
B cells present but low IgM with normal IgG and high IgE/IgA

Mutation in WAS protein (WASP)

30
Q

What are NK cell deficiencies?

L27 S48

A

Group of diseases that result in lack of NK cells or lack of NK cell function

31
Q

What is a chronic granulomatous disease?

L27 S52

A

Caused by failure of phagocytes to kill phagocytized cells

Deficiency in NADPH oxidase resulting in lack of ROS

Results in collection of immune cells at infection site (granuloma)

Susceptibility to catalase+ bacteria

32
Q

What is G6PD deficiency?

L27 S53

A

Unable to regenerate NADPH

Formation of granulomas due to inability to inability to produce ROS

33
Q

What is leukocyte adhesion deficiency?

What symptom is indicative of this in new bornes?

L27 S54-55

A

Inability of neutrophils to binds activated epithelium and enter sites of infection

Lack of CD11 or CD18

DELAYED DETACHMENT OF UMBILICAL CORD

34
Q

What is Chediak-Higashi
syndrome?

L27 S56

A

Defect in neutrophil granule structure.

Lack of cathepsin G and elastase from granules result in ineffective killing of bacteria

no NK activity

35
Q

What is MyD88 deficiency?

L27 S71

A

Inability to respond to all TLR signaling except TLR 3.

Will not have a fever during infection or have elevated CRP and ESR

SFM - Biochem - Final (10 decks)

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