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MHD > Primary Immunodeficiency > Flashcards

Primary Immunodeficiency Flashcards

1
Q

When a patient has an ID (immunodeficiency), they are more likely to develop…

A

Lymphomas or Autoimmune diseases

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2
Q

B Cell Defect

When will it first manifest?

A

3-6 months after birth (before then, the child is protected by Mom’s antibodies)

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3
Q

B Cell Defect

Clinical Manifestations

A

Recurrent sino-pulmonary infections and septicemias caused by infection with extracellular pyogenic bacteria

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4
Q

B Cell Defect

What is the pt more likely to get infected with?

A

Encapsulated bacteria
Strep, Staph, Haemophilus

Also susceptible to systemic and atypical CNS disease with enteroviruses normally found in GI tract

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5
Q

T Cell Defect

When will it first manifest?

A

At birth

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6
Q

T Cell Defect

Clinical Manifestations and Likely infections

A

Infections that require T cell/macrophage interaction

Listeria, Mtb, Toxoplasmosis, fungi, protozoa
Most viruses (from CD8 lack)
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7
Q

A B and T cell defect is known as…

A

Severe Combined Immunodeficiency (SCID)

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8
Q

When would a baby with SCID first get sick?

A

At birth

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9
Q

What is the general difference in the kinds of recurrent infections found in B cell defects vs. T cell defects?

A

B cell defects
Mostly Bacterial

T Cell defects
May include viral, fungal, opportunistic infections too

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10
Q

In general, how would you test whether a patient has a B cell defect?

A

Measure serum immunoglobulin

Do a serum protein electrophoresis

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11
Q

In general, how would you test whether a patient has a T cell defect?

A

Do a blood count with CBC –> do they have lymphocytes?

Could also measure whether they mount a positive skin test to common antigens (like Candida or Histoplasmosis)

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12
Q

What surgical procedure must be done with extreme care in people with immunodeficiencies? Why?

A

Lymph node biopsy

Very easy to get an infection with a sloppy surgeon

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13
Q

What is the only truly pure B cell defect?

A

X linked agammaglobulinemia

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14
Q

X linked agammaglobulinemia

Where is the mutation?

A

BLK Receptor, a signaling tyrosine receptor needed for growth and development of B cells

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15
Q

X linked agammaglobulinemia

What is the basic pathological problem?

A

The patient has no normal B cells anywhere, so they have almost no antibody present in circulation!

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16
Q

X linked agammaglobulinemia

Treatment

A

IVIG

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17
Q

Hyper IgM Syndrome

Where is the mutation?

A

CD40L, a receptor on T cells

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18
Q

Hyper IgM Syndrome

What is the pathogenesis?

A

Mutation of CD40L prevents isotype switch from occurring

Inability of T cells to be activated and provide cytokines for isotype switch

No isotype switch –> log IgG, low IgA, high IgM

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19
Q

Hyper IgM Syndrome

Treatment

A

Sten Cell Transplant

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20
Q

Selective IgA Deficiency

What is the pathogenesis?

A

IgG and IgM levels are normal, but IgA levels are decreased/absent.

No increased infections because IgG and IgM simply substitute for IgA

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21
Q

Selective IgA Deficiency

What is the major concern with these patients?

A

These patients may develop IgG anti-IgA antibodies.
If they need a blood transfusion, there will likely be residual IgA on the donor RBCs and the patient will mount an immune response. Could cause anaphylaxis and death in IgA deficient patients

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22
Q

EBV X linked agammaglobulinemia

What is the mutation and how does it become activated?

A

Mutation in signaling receptor of CD8 cells, which becomes activated by EBV infection of B cells

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23
Q

EBV X linked agammaglobulinemia

Pathogenesis

A

The mutation in the CD8 receptor renders the CD8 cell unstoppably active, causing the T cells to kill any lymphocyte they see.

Causes global immune dysfunction and death

24
Q

Common Variable Immunodeficiency (CVID)

What is the fundamental defect?

A

Inability of a B cell to differentiate to a plasma cell

25
Q

Common Variable Immunodeficiency (CVID)

When does CVID present?

A

Symptoms can begin anytime after 2 years of age (infancy is usually normal)

26
Q

Common Variable Immunodeficiency (CVID)

What is seen on lab tests?

A

Decreased IgM, IgG, and IgA levels

Normal amount of B cells in the periphery

27
Q

Common Variable Immunodeficiency (CVID)

What does it commonly culminate in?

A

Lymphoma

28
Q

Common Variable Immunodeficiency (CVID)

What would be seen in a lymph biopsy?

A

Total lack of germinal centers

29
Q

Common Variable Immunodeficiency (CVID)

Pathogenesis

A

Nobody really knows

30
Q

Common Variable Immunodeficiency (CVID)

Treatment

A

IVIG will work until T cell defects become prominent

Then, HSC transplants can be successful

31
Q

Common Variable Immunodeficiency (CVID)

Describe the disease progression

A

Decreased IgG, IgM, and IgA in early stages due to inability of B cell to mature into a plasma cell.

Progresses to overt T cell symptoms and multiple autoimmune diseases

32
Q

Common Variable Immunodeficiency (CVID)

What should you always be monitoring for?

A

Lymphomas!

33
Q

Thymic Aplasia

What is the mutation?

A

22.q.11.2 deletion

34
Q

Thymic Aplasia

When does the baby first get sick?

A

Sick from birth with fungal infections because they have no thymus

35
Q

Thymic Aplasia
Often arises with structural mutations in the 3rd/4th pharyngeal pouches in embryological development. What does this cause?

A

Thymic aplasia always presents with either Tetralogy of Fallot or Pulmonary Stenosis.

36
Q

Thymic Aplasia

Symptoms

A 
Tetralogy of Fallot or Pulmonary Stenosis
Facial dysmorphism
Deficient parathyroid glands
Symptomatic hypocalcemia
Lymphopenia
Decreased lymph tissue
37
Q

SCID

Where are common sites for mutation?

A

JAK3
ADA
Rag 1 and 2

38
Q

SCID

What test may be done to determine if T cells are being made?

A 
TREC analysis
(Remember: TRECs are formed during the rearrangement of the TCR)

TRECs can be detected with PCR

If TRECs are present, the thymus is present and is making T cells

39
Q

Wiskott-Aldrich Syndrome

Symptoms

A

Eczema
Thrombocytopenia
Recurrent bleeding episodes
Cannot make antibody against polysaccharides

40
Q

Wiskott-Aldrich Syndrome

What is the pathological defect?

A

Moderate T cell deficiency

41
Q

Ataxia Telangiectasia

What is the pathological defect?

A

Loss of function of DNA repair

High sensitivity to radiation

42
Q

Ataxia Telangiectasia

Symptoms

A

Early Cerebellar Dysfunction
Recurrent infections of all kinds
High sensitivity to radiation
High risk of lymphoma

43
Q

Bare Lymphocyte Syndrome

What is the pathological defect?

A

Defect in formation and transport of MHC I and II complexes to the cell membrane

44
Q

If you can’t present MHC Class I, you’ll do poorly with what kind of infections?

A

Viral

45
Q

If you can’t present MHC Class II, you’ll do poorly with what kind of infections?

A

Tuberculosis

46
Q

Job (Hyper IgE) Syndrome

Symptoms

A 
Hugely high IgE levels
Eczema
Recurrent T and B cell infections
High IL4 and IL13
Th17 abnormalities
47
Q

Chediak Higashi Syndrome

What would you see on blood smear?

A

Strange looking neutrophils with huge blue granules

48
Q

Chediak Higashi Syndrome

Symptoms

A

Pyogenic infections with bleeding tendency

Recurrent infections, but normal T and B cells

49
Q

Chronic Granulomatous Disease

Inheritance

A

X linked recessive

50
Q

Chronic Granulomatous Disease

Where is the mutation and how does this affect the patient?

A

Mutation in the NADPH respiratory burst system

Neutrophils can phagocytize but cannot kill because they cannot generate sufficient H2O2

51
Q

Chronic Granulomatous Disease

What infections are common?

A

Catalase + organisms (Staph, fungi)

52
Q

Chronic Granulomatous Disease

Treatment

A

IFN-y effective in some

Future candidate for gene transfer

53
Q

A deficiency in late complement components C5-C9 predisposes a patient to…

A

Neisserial infections

54
Q

TLR-MyD88 deficiency predisposes to…

A

Pyogenic infections

55
Q

CLR-Mannose binding lectin deficiency predisposes to…

A

Bacterial and fungal infections

56
Q

NLR-NLRP3 deficiency leads to…

A

Dysregulation of IL-1 and autoinflammatory syndromes

MHD (57 decks)

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