Primary immunodeficiency Flashcards

1
Q
  1. What is DiGeorge syndrome (HY)?
A

Failure to develop 3rd and 4th pharyngeal pouch due to 22q11 mutation

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2
Q

What are presentation of DiGeorge syndrome?

A

• T cell deficiency- problems fighting viral and fungal infection (due to lack of thymus as thymus develops from 3rd and
4th pouch)
• Hypocalcemia (due to lack of parathyroid)
• Abnormalities of heart, great vessels, and face

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3
Q

What is SCID (severe combined immune deficiency)?

A

Pt have defective cell-mediated and humoral immunity (both T and B).

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4
Q

Etiology of SCID?

A
• Cytokine receptor defects (main cause)
• Adenosine deaminase deficiency (second main cause)(HY) - enzyme necessary for deamination of adenosine and
deoxyadenosine. In lack of enzyme, adenosine and deoxyadenosine accumulates in immune cells causing toxicity.
• MHC class II deficiency - CD4 won't be able to be activated. It leads to defective function of CD8 and B cells.
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5
Q

Presentations of SCID?

A
  • Lack of T cells result in fungal and viral infections
  • Lack of B cells result in bacterial and protozoal infections
  • Increased opportunistic infection and be wary to give live vaccines.
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6
Q

Treatment of SCID?

A
  • Sterile isolation (bubble babies)

* Stem cell transplant

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7
Q

What is X-linked agammaglobulinemia? What is the mutation?

A
  • Name suggests pt lacks gammaglobulin (antibodies) in blood. There’s a complete lack.
  • Occurs because naïve B cells can’t mature to plasma cells.
  • Mutation is Bruton tyrosine kinase. It’s a signaling receptor that helps maturation of B cells.
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8
Q

What is presentation of X-linked agammaglobulinemia?

A
  • Recurrent bacterial, enterovirus, and Giardia infection (HY).
  • Enterovirus affects mucosa of GI tract. IgA protects mucosal surface, and lack of IgA results in enterovirus infection.
  • Bacterial infection occurs because lack of antibodies affect opsonization.
  • Giardia occurs for same reasoning as enterovirus.
  • Presents after 6 month of life – because mom’s antibodies last for about 6 months
  • Don’t give them live polio vaccines
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9
Q

What is common variable immunodeficiency disease?

A

Pt has low antibodies due to defective B or T cell

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10
Q

Presentation of x linked agammaglobulinemia

A
  • Pt has increased risk of bacterial, enterovirus, giardia infection, often in late childhood.
  • They have increased risk of autoimmune disease and lymphoma. (HY)
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11
Q

What is IgA deficiency?

A

This is most common Ig deficiency. Pt have low serum and mucosal IgA which increases risk of mucosal infections especially viral
Note – pt with celiac disease usually have IgA deficiency.

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12
Q

. What is pathophysiology of Hyper-IgM syndrome? What is presentation?

A

• Patient has mutation in CD40 or CD40 receptor. Due to this, B cells can’t activate CD4. In lack of good CD4, cytokines
necessary for Ig class switching is not produced. Pt will have low IgA, IgG, and IgE.
• Presentation is recurrent pyogenic infections, especially at mucosal sites. IgG is a opsonin, low amount results in more
formation of pus.

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13
Q

What is Wiskott-Aldrich syndrome (WAS)? What causes it? (just memorize)

A
  • Pt have thrombocytopenia, eczema, and recurrent infections. Pt have defective humoral and cellular immunity.
  • Happens due to mutation in WASP (Wiskott-Aldrich syndrome protein) gene and is x-linked.
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14
Q

What are the consequence of the following complement deficiencies? (just memorize)

A
  • Deficiency from C5-C9 - increased risk of Neisseria infection (HY)
  • C1 inhibitor deficiency - hereditary angioedema characterized by edema of skin (especially periorbital) and mucosal
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