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MHD Renal Block > Primary Immunodeficiency > Flashcards

Primary Immunodeficiency Flashcards

1
Q

When would you expect susceptibility to start from a person with a B cell defect?

A

3-6 months after birth

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2
Q

Which organisms dominate when there is a B cell defect?

A
  • Streptococci
  • Staphylococci
  • Haemophilus
  • enteroviruses
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3
Q

When would you expect susceptibility to start from a person with a T cell defect?

A

From day 1

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4
Q

Which organisms dominate when there is a T cell defect?

A

Listeria, MTB, Toxo, fungi, protozoa

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5
Q

What do you call a B & T cell defect?

A

SCID - Severe combined immunodeficiency disease

-sick from birth

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6
Q

What are some B cell function tests?

A
  • serum protein electrophoresis
  • quantitation of specific Ig levels in blood
  • check titers
  • flow cytometry
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7
Q

What is the problem in X linked agammaglobulinemia?

A

Mutation in a signaling tyrosine receptor that is mandatory for growth and development of B cells [BLK]
-only pure B cell defect

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8
Q

Where can you find B-cells in X linked agammaglobulinemia?

A
  • not in serum

- not in marrow or lymphoid tissue either

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9
Q

How would you treat X linked agammaglobulinemia?

A

IVIG

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10
Q

What is the problem in Hyper IgM syndrome?

A

mutation of CD40L on T cells

-most are x-linked

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11
Q

What is the treatment for Hyper IgM syndrome?

A

stem cell transplant

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12
Q

What is selective IgA deficiency?

A
  • lacking IgA
  • IgG and IgM levels are normal and compensate
  • not associated with any specific infections
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13
Q

What is a clinical problem for selective IgA deficiency?

A

10% of patients may have anti-IgA antibodies which may cause anaphylactic reaction during blood transfusion or IVIG

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14
Q

What is EBV X-linked agammaglobulinemia?

A
  • underlying defect is a mutation in signaling regulator of CD8 cells
  • mutation activated by EBV infection of B cells
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15
Q

What causes the agammaglobulinemia in EBV X-linked agammaglobulinemia?

A

If patient survives the EBV, B cell depletion by cytotoxic T cells ensues

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16
Q

What is wrong in Common Variable Immunodeficiency?

A

-inability of B cell to differentiate to a plasma cell

17
Q

Progression of Common Variable Immunodeficiency

A
  • Infancy normal, symptoms begin after 2 years old
  • Decreased IgG, IgA, and IgM first
  • Then, symptoms signifying lack of T cells
  • Then autoimmunity diseases
  • Finally, lymphoma
18
Q

Clinical Presentation of Common Variable Immunodeficiency

A
  • B cells normal

- Lymph nones will have decreased germinal centers

19
Q

Treatment of Common Variable Immunodeficiency

A
  • IVIG until T cell defects start
  • stem cell transplant
  • surveillance for lymphomas
20
Q

What is wrong in DiGeorge syndrome?

A

-chromosomal deletion in chromosome 22q11.2
-structural mutations in 3rd and 4th brachial punches
Infants very sick from birth with fungal infections

  • cardiac problems tetralogy of ballot or pulmonary stenosis
  • Face abnormal
  • Absent parathyroid glands
  • CATCH 22
21
Q

Diagnosis of Thymic aplasia

A
  • No thyme shadow on chest film

- decreased lymphoid tissue

22
Q

What is wrong in SCID?

A
  • multiple sites of mutation: Adenosine Deficiency deficiency, IL2 R, JAK, Rag 1, 2
  • TRECs decreased or absesnt
23
Q

Treatment of SCID

A
  • stem cell transplant or gene insertion

- if ADA deficiency, then enzyme replacement therapy

24
Q

What is molecularly wrong in Wiskott-Aldrich syndrome?

A

X-linked recessive mutation of WAS gene

-decreased IgM and inability to make antibody to polysaccharides

25
Q

Clinical Presentation of Wiskott-Aldrich syndrome

A
  • Eczema
  • thrombocytopenia
  • moderate T cell deficiency
  • high incidence of autoimmunity
26
Q

Features of Ataxia-Telangiectasia

A
  • early cerebellar dysfunction
  • oculocutaneous telangiectasia
  • recurrent infections of all kinds
  • high rate of neoplasia
  • extreme sensitivity to radiation induced DNA damage and FAULTY REPAIR
  • defective apoptosis
27
Q

What is wrong in Bare Lymphocyte syndrome?

A

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

28
Q

Job (hyper IgE) syndrome

A
  • autosomal dominant
  • eczema, recurrent T and B cell infections
  • high IL 4 and 13 levels
  • Stat 3 mutation
29
Q

Chediak Higashi syndrome

A
  • recessive
  • decreased intracellular protein transport
  • azurophilic granule formation affected in lymphocytes and neutrophils
  • Albinism, bleeding tendency, lymphomas
  • pyogenic infections
30
Q

Chronic Granulomatous Disease

A
  • X-linked recessive
  • mutation in NADPH respiratory burst system
  • neutrophils can phagocytize but can’t kill due to insufficient H2O2
  • Infections with catalase positive organisms are frequent
  • treatment with IFN-y in some, gene transfer(?)
31
Q

Innate system pattern recognition

A
  • TLR-MyD88 for pyogenic infections
  • CLR-Mannose binding lectin for bacterial/fungal infections
  • NLR (cytoplasmic pattern recognition) - NLRP3 deficiency for dysregulation of IL-1 and auto inflammatory syndromes

MHD Renal Block (4 decks)

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