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All the things > Primary Immunodeficiencies > Flashcards

Primary Immunodeficiencies Flashcards

1
Q

DiGeorge syndrome is due to what failure of development?

A

Failure of formation of the 3rd and 4th pharyngeal pouch

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2
Q

What is the gene mutation with DiGeorge syndrome?

A

22q11 microdeletion

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3
Q

What are the three classic findings of patients with DiGeorge syndrome?

A

Abnormalities of the face
Hypocalcemia
T-cell deficiency

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4
Q

What is the pathophysiology behind the T cell deficiency seen in DiGeorge syndrome?

A

Lack of a thymus

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5
Q

What is the pathophysiology behind the hypocalcemia seen in DiGeorge syndrome?

A

No parathyroids thus no PTH

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6
Q

What two types of pathogens are pts with DiGeorge syndrome susceptible to?

A

Viruses
Fungi
(these are T cell mediated defenses)

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7
Q

Which types of immunity are affected in SCID: humoral or cell mediated?

A

Both

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8
Q

What are the three major etiologies of SCID?

A
  1. Cytokine receptor defects
  2. Adenosine deaminase deficiency
  3. MHC class II deficiency
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9
Q

Why does an adenosine deaminase deficiency result in SCID?

A

Inability to deaminate adenosine results in accumulation of toxic adenosine in lymphocytes

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10
Q

Why does MHC class II deficiency result in SCID?

A

No CD4+ Th cell activation, thus no helper cells (T-helper cells are the conductors of the immune system)

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11
Q

What is the treatment for SCID?

A

Stem cells transplant in bone marrow

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12
Q

What is the pathophysiology behind X-linked agammaglobinemia?

A

Disordered B cell maturation, leading to a complete lack of immunoglobin

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13
Q

What is the protein that is mutated in X-linked agammaglobinemia?

A

Bruton Tyrosine Kinase

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14
Q

What are the three infections that pts with X-linked agammaglobinemia are susceptible to?

A

Bacterial
Enterovirus
Giardia

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15
Q

What patients must avoid live vaccines? (2)

A

X-linked agammaglobinemia

SCID

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16
Q

Why is it that pts with X-linked agammaglobinemia do not present with symptoms before 6 months of age?

A

Still have maternal antibodies

17
Q

What is the pathophysiology behind common variable deficiency?

A

Low immunoglobin d/t B cell or Th cell defects

18
Q

What are the three infections that CVID pts are susceptible to?

A
  1. Bacterial
  2. Giardia
  3. Enterovirus
19
Q

What is the malignancy that CVID pts are susceptible to? Why?

A

B cell lymphoma d/t proliferation of B cells

20
Q

What is the pathophysiology behind IgA deficiency?

A

Low serum IgA, leading to an increased risk for mucosal infections

21
Q

What is the most common immunoglobin deficiency?

A

IgA deficiency

22
Q

Which GI disease is associated with IgA deficiency?

A

Celiac disease

23
Q

What type of infections are patients with IgA deficiencies susceptible to?

A

Mucosal infections, especially viral

24
Q

What is the mutation involved in hyper IgM syndrome?

A

Second cell signals to B cells (CD40 ligand) do not function, thus no class switching from IgM

25
Q

What are the two ways in which B cells are activated?

A

Antigen binds IgM on cell surface

B cell internalizes antigen, and presents to CD4+ Th cells

26
Q

When CD4+ T cells are activated by B cells, what two cytokines do they produce to induce B cells to switch from IgM to other immunoglobin classes?

A

IL-4

IL-5

27
Q

Why is there still adequate amounts of IgM in hyper IgM syndrome?

A

B cells can still be activated via IgM binding to antigens on cell surface receptor

28
Q

What are the three symptoms of Wiskott-Aldrich syndrome?

A
  1. Thrombocytopenia
  2. Eczema
  3. Recurrent infx
29
Q

What is the mutation involved in Wiskott-Aldrich syndrome (what gene on what chromosome)?

A

Defect in the WASP gene on the X chromosome

30
Q

Deficiency if C5-C9 pose an increased risk with what infection in particular?

A

Neisseria (gonorrhea, meningitis etc)

31
Q

C1 inhibitor deficiency causes what physical symptoms?

A

Hereditary angioedema

32
Q

What is the pathophysiology behind C1 inhibitor deficiency?

A

Not inhibiting C1 will lead to chronic edema and inflammation d/t no inactivation of complement

33
Q

C1 inhibitor deficiency causes what physical symptoms?

A

Hereditary angioedema–periorbital edema especially

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