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SFM Final Lectures > PIDS > Flashcards

PIDS Flashcards

1
Q

What type of cell immunodeficiency is associated with pyogenic bacteria and recurrent bacterial infections?

A

B cells

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2
Q

What are you at an increased risk of having if you have a T cell deficiency?

A

Cancer: t cells critical for surveillance against oncogenic viruses
Viral Infections
Autoimmunity: deficiency in Treg
Infection with intracellular microbes

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3
Q

What does a deficient delayed-type hypersensitivity (DTH) indicate?

A

T cell immunodeficiency

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4
Q

What is DiGeorge Syndrome? What is its phenotype? Can you give viral vaccines?

A

Selective T-cell deficiency caused by congenital malformation resulting in defective development of the thymus (deletion in chromosome 22)

  • frequent upper respiratory infections
  • recurrent viral infections
  • commonly decreased number of T cells

T -, B +, NK +

Can give if have CD8 greater than 300

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5
Q

What is the classic triad that indicates undeveloped thymus (aka DiGeorge)?

A

cardiac anomalies
hypocalcemia
hypoplastic thymus

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6
Q

What is x-linked agammaglobulinemia? What is its phenotype?

A

B cell immunodeficiency: No IgA IgM or IgG, caused by defect in rearrangment of heavy chain

  • Happens during pre- B cell stage (differentiation defect)
  • Exclusively an abnormality of humoral response

HSCT is curative and should be considered

Recurrent bacterial infections

Seen in MALES because x-linked (there is also an autosomal form that presents the same way just not only in males)

B –, T + , NK +

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7
Q

What is selective IgA deficiency? What is its phenotype?

A

B cell immunodeficiency

  • IgA titers are undetectable or very low, IgG and IgM are
    normal.
  • have mature B cells just not plasma cells to produce IgA (maturation/differentiation issue)

Autosomal but higher in males

IgM can compensate for deficiency so often asymptomatic

may have serum anti-IgA IgG which has been linked to the development of non-IgE mediated anaphylaxis in response to an intravenous immunoglobulin

No vaccination restriction

B +, T + , NK +

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8
Q

What is common variable immunodeficiency? What is its phenotype?

A

B cell immunodeficiency

  • LOW IgG and IgA; sometimes low IgM
  • associated with Hypogammaglobulenmia= delay in IgG production
  • recurrent pyogenic sinus infections
  • at risk of infections, autoimmune disease, and malignancies

Autosomal disorder

HCST curative

B –/+, T + , NK +

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9
Q

What is hyper-IgM syndrome? What is its phenotype?

A

Failure of the B cell heavy chain to undergo switch from the IgM isotype resulting in ELEVATED IgM no IgG or IgA
- predisposed to pyogenic infections= encapsulated opportunistic infections
- normal numbers of peripheral B cells, but LOW
numbers of CD27-positive memory B cells.

X-linked: mutation in CD40L 2/3 of cases
autosomal: Cd40 deficiency 1/3 of cases

B +, T + , NK + in transient form it’s B-/+, T+, NK+

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10
Q

What is ADA deficiency? What is its phenotype?

A

Low IgG, IgA, and IgM
Accumulation of toxic for lymphocytesmetabolic by-products deoxyadenosine

Severe opportunistic infections

Autosomal recessive

HSCT is a treatment option

Do NOT give live vaccine

T -, B -, NK -

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11
Q

What is X-linked SCID (Common g Chain Deficiency)? What is its phenotype?

A

Caused by mutation in common cytokine gamma receptor= T cell growth receptor
disruption in IL-2

Non functional B-cells because T-cells aren’t able to help
- have IgM but no IgG or IgA

failure to thrive, severe thrush, opportunistic infections, and chronic diarrhea.

HSCT is an option

Do NOT give live vaccine

T -, B +, NK -

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12
Q

What morphological feature is commonly seen in patients with B cell deficiencies when lymph node biopsy is performed?

A

Reduced follicles and germinal centers

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13
Q

What immunodeficiency is the most common PID with a 1 in 700 in white individuals?

A

Selective IgA deficiency

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14
Q

What intracellular microbe is someone with hyper-IgM syndrome susceptible to?

A

Pneumocystis jiroveci

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15
Q

What is the difference between x-linked and autosomal hyper-IgM sydrome?

A 
X-linked= deficiency in CD40L on T cells
Autosomal= mutation in CD40 on B cells
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16
Q

What is Wiskott-Aldrich Syndrome (WAS)? What is its phenotype?

A

Low IgM; normal Ig, elevated IgA and IgE
T cell lymphopenia
Decreased NK cell cytotoxicity

Symptoms thrombocytopenia, eczema,
cellular and humoral immunodeficiency, autoimmune disease, and malignancy BLEEDING
- recurrent sinopulmonary infections

X-linked recessive

T -, B +, NK -

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17
Q

What type of deficiency is associated with fungal infections?

A

T-cells

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18
Q

What mechanism is someone with x-linked BTK impaired in?

A

Antibody-mediated bacterial clearance because have a near or total absence of B cells and Igs

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19
Q

When is bone marrow transplant effective?

A

When there is defect specifically in lymphocytic lineage

Effective in all SCID

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20
Q

What causes hereditary angioedema?

A

Deficient levels of C1 inhibitor

21
Q

What is chronic granulomatous disease?

A

Defects in various degradative enzymes (NADPH oxidase)
or other molecules of the oxidative burst= impaired ability to kill microbes/phagocytosed bacteria
Similar to G6PD deficiency (asymptimatic) and myleoperoxidase deficiency

22
Q

What test is used to see ability of killing microbes?

A

Tetrazolium test, evaluates effectiveness of oxidase enzymes

23
Q

What is the diagnostic feature of Chediak-Higashi Syndrome?

A

Giant lysosomes clustered near the nucleus caused by defect in vesicle fusion –> impaired phagocytosis because endosome cant fuse with lysosome (chemotaxis and degranulation issue)
granules do not contain cathepsin G and elastase for decay of intracellular pathogen
NO NK Activity

24
Q

What is an indicator of LAD type 1= leukocyte adhesion deficiencey?

A

Lacking CD11/CD18 cell markers
Cause defective migration of phagocytes into infected tissues
Delayed detachment of umbilical cord
Increased Neutrophil count even without infection because can’t bind to intracellular adhesion molecules of endothelial cells –> recurrent infection and inability to form pus

25
Q

What is the phenotype of a Rag-deficient SCID patient? What does this deficiency cause?

A

T-, B-, NK+

Autosomal recessive

Leads to defective expression of the pre-TCR and pre-BCR because impaired VDJ recombination
No IgM, IgG, or IgA

26
Q

How can you distinguish hyper-IgM syndrome from X-linked agammaglobulinemia

A

CD19+ in the blood of someone with hyper-IgM not x-linked agammaglobulinemia because it occurs during the pre-b-cell stage

27
Q

What happens if cells in the Thymus lack CD3?

A

They cannot proliferate in response to a particular antigen because CD3 is the signal transduction complex
- they can bind the antigen just cant activate and proliferate in response to first signal

28
Q

What do T cells use to rearrange their receptor gene segments?

A

terminal deoxynucleotidyl transferase

29
Q

What cytokine should be administered with bone marrow cells to stimulate lymphoid cell development?

A

IL-7

30
Q

What cytokine stimulates myeloid precursors?

A

IL-3

31
Q

What does hypogammaglobulinemia lead to?

A

Recurrent bacterial infections

32
Q

What pattern is a characteristic of plasma cell myeloma?

A

Synthesis of large amounts of antibody of one isotype

doesn’t necessarily mean deficient in other Abs

33
Q

What is the most common clinical consequence of C3 deficiency?

A

Increased susceptibility of bacterial infections because important role in opsonization and destruction of bacteria
In all 3 pathways of complement

34
Q

What patient with what type of cell deficiency should you never vaccinate with live viruses?

A

T-cell even if attenuated

35
Q

What is PNP deficiency? (not in practice questions)

A

Build up of intracellular deoxyguanosine triphosphate (dGTP). This metabolite is toxic to lymphocytes, leading to a decrease in peripheral T cell numbers, but B cell numbers are normal

hemolytic anemia, thyroid disease, arthritis, lupus.
Severe oportunistic infections

Autosomal recessive SCID

HSCT is effective

NO Live vaccines

T -, B +, NK +/- antibodies often normal

36
Q

What is Artemis deficiency? (not in practice questions)

A

Low IgG, IgA, and IgM
risk of lymphomas

Sever opportunistic infections

Autosomal recessive SCID

No live vaccines

T -, B -, NK + (no t or b but NK are normal) same as Rag1/2 deficiency

37
Q

What is Omen syndrome? (not in practice questions)

A

Leaky Rag causing severe erythroderma, splenomegaly,

eosinophilia, and high IgE

38
Q

What is Jak-3 deficiency? (not in practice questions)

A

Defect in IL-2 signaling
Very low IgG, IgA, and some IgM

Autosomal recessive

T -, B +, NK -

39
Q

What is IL-7R Alpha Chain Deficiency? (not in practice questions)

A

autosomal recessive form of SCID effecting early t cell development

No IgG, IgA, and very low IgM

T -, B +, NK +

40
Q

What is Bare Lymphocyte Syndrome Type 2? (not in practice questions but talked about in complement CIS)

A

HLA class II negative SCID: no MHC class II expression on professional APCs that causes a deficiency in CD4+ T cells

Variable HYPOGAMMAGLOBULINAEMIA (mainly IgA and IgG2)

Recurrent respiratory, GI and UT infections

autosomal recessive

CD4 lymphopenia

41
Q

What is MHC Class I Deficiency? (not in practice questions but talked about in complement CIS)

A

mutation in TAP1 molecules to transfer peptides to
ER

autosomal recessive

CD8+ cells are deficient that causes recurring VIRAL infections.

no vaccination restrictions and cant use HSCT

normal DTH

42
Q

What is CD3 complex deficiency? (not in practice questions)

A

Deficiency of CD3 subunit causing autosomal recessive SCID= signaling issues in TCR

Recurrent viral infections

T-, B+, NK+
antibodies IgM but no IgG or IgA

43
Q

What is the function of IL-12?

A

Produced by Monocytes and CDS binds to receptor and stimulates IFN-gamma to be released by T cells and NK cells
Bings of IFN-gamma to monocyte activates production of H2O2 and TNF-alpha
Clean up after NK cell

44
Q

What is IPEX?

A

Self reactive t-effector cells are not inhibited because of mutation in FOXP3 `

45
Q

What is ALPS?

A

defects in Fas, FasL, caspase-8 or 10 result in abrogated formation of DISC and resistance of effector t cells to apop –> swollen lymph nodes
can’t treat with HCST

46
Q

What is C8 complement deficiency?

A

autosomal recessive
Neisserial infections!!!
Low C8 –> cant form MAC

47
Q

What is Paroxysmal Noctunral Hemoglbinuria?

A

Failure to regulate MAC formation causing intravascular hemolysis
Deficiency in glycosylphosphatidylinositol= DAF and CD59 which are regulatory proteins

48
Q

What are signs of a MyD88 deficiency?

A

impaired signaling of all TLRs but 3
Lack fevers: during infection TNF-alph, il-1 and il-6 are low
Low ESR and CRP

49
Q

What is common of all forms of SCID?

A

HSCT is a treatment
At risk for sever opportunistic infections
No live vaccines

SFM Final Lectures (7 decks)

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