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Blood and Lymph Unit 2 > Deficiency of Adaptive Immunity > Flashcards

Deficiency of Adaptive Immunity Flashcards

1
Q

What are the two categories of immunodeficiency?

A
  1. Primary

2. Secondary

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2
Q

What is primary immunodeficiency?

A

An immunodeficiency caused by mutations in genes required for normal development of parts of the immune system.

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3
Q

What is the normal inheritance pattern for primary immunodeficiency?

A

There is no one normal inheritance pattern. Different diseases can have differing inheritance patterns with different penetrance.

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4
Q

Is a congenital dysfunction of the thymus or bone marrow considered primary or secondary immunodeficiency?

A

Primary

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5
Q

Immunodeficiency following treatment of immunosuppressive drugs will be considered primary or secondary immunodeficiency?

A

Secondary

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6
Q

A block in the development of lymphoid stem cells would cause which cell numbers to be low?

A

T cells AND B cells

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7
Q

What condition results in a block in the development of the lymphoid stem cell?

A

Severe Combined Immunodeficiency Disease, or SCID

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8
Q

What are some characteristics of SCID?

A

Lymphopenia- both T and B cells

Absent thymic shadow on X-ray

Tonsils are small

Mitogen responses and serum immunoglobulins are low

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9
Q

What is the inheritance patterns of most SCID cases?

A

X-linked recessive

the rest are autosomal recessive

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10
Q

What is the defect in SCID-X1?

A

Gene for the gamma chain that forms part of the receptors for IL-2 and other cytokines necessary for lymphoid development

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11
Q

What enzyme do most patients with SCID lack?

A

Adenosine deaminase (ADA).

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12
Q

What happens when a patient has a deficiency in adenosine deaminase?

A

Adenosine accumulates in all cells but impairs lymphocyte development selectively

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13
Q

What is the most common mutation that causes SCID in Navajo and Apache children?

A

Defect in V(D)J recombination

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14
Q

What block would result in normal T cells but low to absent B cells?

A

Block 2

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15
Q

A boy presents with recurrent bacterial infections manifesting as pneumonia, chronic diarrhea and enterovirus. What should you have on your differential diagnosis?

A

X-linked (Bruton) Agammaglobulinemia

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16
Q

What patient population is the reason why we can no longer use oral polio vaccine in America?

A

X-linked (Bruton) Agammaglobulinemia

17
Q

High IgM with low IgG and IgA is seen in patients with what type of block?

A

Block 3

18
Q

What defect is seen in Block 3?

A

Either mutation in CD40 ligand on T cells or

CD40 on B cells

19
Q

What is the name of a block 3 syndrome?

A

X-linked hyperIgM syndrome

20
Q

What is the name of the condition that results in a normal number of pre-B and B cells, but the B cells are difficult to trigger to make specific antibody?

A

Common Variable Immunodeficiency (CVID)

21
Q

What is the main phenotype of common variable immunodeficiency?

A

Recurrent bacterial infection

22
Q

What is the treatment of someone with common variable immunodeficiency?

A

IVIG

SCIG

23
Q

CVID have an increase risk of what?

A

Lymphoma
Enteropathy
Autoimmunity

24
Q

What are the two components of the thymus?

A

Lymphoid part- derived from bone marrow

Stromal part- derived from endoderm and ectoderm of the 3rd and 4th pharyngeal pouch

25
Q

DiGeorge syndrome is caused by what mutation?

A

-Large (45 gene) deletion on chromosome 22

26
Q

What is the phenotypical presentation of DiGeorge syndrome?

A
  • Unexplained convulsions controllable by calcium because parathyroids also derive from the pharyngeal pouches
  • Great vessels of the heart develop abnormally
  • Cell mediated immunity is depressed, so viral and fungal infections are common
27
Q

T cell deficiencies are associated with what type of infection?

A

Intracellular pathogens

  • viruses
  • certain bacteria
  • yeast and fungi (esp. Candida albicans and Pneumocystis jirovecii)
28
Q

B cell deficiencies are associated with what type of infections?

A

“high-grade” (extracellular, pyogenic = pus-producing) bacterial pathogens such as Staphylococcus aureus, Haemophilus influenzae and Streptococcus pneumoniae

29
Q

Issac is a 9 month old patient brought into the ER by his mother who tells you that her son has been having recurrent and persistent Gram-positive bacterial infections. You check Issac’s IgG levels and see that they are low. What should be on you differential diagnosis for a patient of this age?

And, how long would you expect this to last?

A

Transient hypogammaglobulinemia of infancy

Up to 18 months

15% of all chronic diarrhea in infants is due to this condition

30
Q

What are the symptoms of someone with selective IgA deficiency?

A
  • Usually asymptomatic
  • Diarrhea and sinopulmonary infections
  • Increased frequency and severity of allergies
31
Q

What is the inheritance pattern of ataxia telangiectasia?

A

Autosomal recessive

32
Q

What are the phenotypical characteristics of someone with ataxia telangiectasia?

A
  • Sinus infections
  • Pneumonia
  • Ataxia
  • Telangiectasia
33
Q

What cellular deficiency is seen in someone with ataxia telangiectasia?

A

T and B cell deficiency. IgA is especially depressed

34
Q

Describe some characteristics of Wiscott-Aldrich syndrome.

A
  • Platelet and B cell deficiency
  • Eczema
  • Many bacterial infections
  • X-linked
35
Q

Name some immunosuppressive viruses.

A

Measles
Mononucleosis
Cytomegalovirus (CMV)

36
Q

What is the treatment for immunodeficient patients?

A
  1. BUBBLES!!!!!
  2. Prophylactic antibiotics
  3. Human immunoglobulin (where B cells are deficient)
  4. Transplantation of fetal thymus or cultured thymic stromal cells in DiGeorge syndrome
37
Q

What is the recommended treatment of kids with SCID?

A

Transplant purified stems cells from sibling

38
Q

What is the treatment of someone with ADA-deficiency?

A

Transfusions of irradiated red cells can be helpful

Blood and Lymph Unit 2 (9 decks)

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