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All the things continued > 2.3 Primary Immunodeficiency > Flashcards

2.3 Primary Immunodeficiency Flashcards

1
Q

What is the cause of DiGeorge syndrome?

A

Developmental failure of the 3rd and 4th pharyngeal pouches d/t microdeletion of chr 22q11

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2
Q

What are the s/sx of DiGeorge syndrome? (CATCH-22)

A
  • Cleft palate
  • Abnormal Facies
  • Thymic aplasia
  • Cardiac Defects
  • Hypocalcemia from hypoparathyroidism
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3
Q

What part of lymph nodes will be underdeveloped in DiGeorge syndrome?

A

Paracortex

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4
Q

SCID is a term for a variety of diseases that have what in common?

A

Defect in cell mediated and humoral immunity

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5
Q

What are the three major etiologies of SCID?

A
  • Cytokine receptor defects
  • Adenosine deaminase deficiency
  • MHC class II deficiency
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6
Q

What is the inheritance pattern of adenosine deaminase deficiency SCID?

A

AR

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7
Q

What is the inheritance pattern of IL-2 Receptor deficiency SCID?

A

XLR

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8
Q

What is the usual presentation of SCID pts?

A

FTT

  • diarrhea
  • Thrush
  • Recurrent infx
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9
Q

What is the treatment for SCIDs?

A

Sterile isolation and Bone marrow transplant

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10
Q

Where is there a mixed humoral and T cell deficiency in SCID d/t MHC class II deficiency?

A

CD4+ T cells are involved in maturation of both arms of adaptive immunity

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11
Q

True or false: live vaccines are absolutely contraindicated in SCID pts

A

True

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12
Q

What is X-linked (Bruton’s) agammaglobulinemia?

A

Defect in BTK (Y kinase gene) which prevents B cell maturation

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13
Q

True or false: there are no B cells in X-linked (Bruton’s) agammaglobulinemia

A

False–no Mature B cells, but there are B cells

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14
Q

What is the usual presentation of X-linked (Bruton’s) agammaglobulinemia?

A

Recurrent bacterial, enteroviral, and giardia infections AFTER 6 months

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15
Q

When do kids with X-linked (Bruton’s) agammaglobulinemia present with s/sx? Why?

A

After 6 months, when maternal Ig falls

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16
Q

What parasitic infection are patients with B cell deficiencies at risk for?

A

Giardia

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17
Q

True or false: Live vaccines are absolutely contraindicated in X-linked (Bruton’s) agammaglobulinemia

A

True

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18
Q

What is CVID?

A

Low Ig d/t B cell or Th cell defects d/t a variety of causes, and presents later in life (can be acquired).

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19
Q

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

A

Bacterial
Enteroviruses
Giardia

20
Q

What noninfectious diseases are CIVD pts susceptible to?

A

Lymphoma

Autoimmune diseases

21
Q

What is the most common primary immunodeficiency?

A

IgA deficiency

22
Q

What type of infections are patients with IgA deficiency more susceptible to?

A

Mucosal, especially viral infections

23
Q

What autoimmune GI diseases is associated with IgA deficiency?

A

Celiac disease

24
Q

What is hyper-IgM syndrome?

A

Defect on CD40L on Th cells, leading to the inability to switch ab classes

25
Q

What is the usualy presentation of hyper-IgM syndrome?

A

Severe pyogenic infections early in life; opportunistic infections with pneumocystis, cryptosporidium, CMV

26
Q

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

A
  • Direct binding of antigen to IgM

- Antigen presentation via MHC II + CD40

27
Q

Why is IgM high in hyper-IgM syndrome?

A

-Direct binding of IgM via antigen is intact, but no CD40 interaction on Th cells to induce switching

28
Q

Why is there a predisposition to pyogenic infections with hyper-IgM syndrome?

A

No IgG for opsonization

29
Q

What is Wiskott-Aldrich syndrome? What is the classic triad of symptoms (TIE)?

A

-Mutation in WASP gene, leading to the inability of T cells to reorganize actin cytoskeleton

Triad:

  • Thrombocytopenia
  • Infections
  • Eczema
30
Q

What are the classic Ig findings in Wiskott-Aldrich syndrome?

A
  • Decreased IgG and IgM

- Increased IgE and IgA

31
Q

What is the inheritance pattern of Wiskott-aldrich syndrome?

A

XLR

32
Q

Deficiencies in C5-C9 components of complement predisposes patients to what infectious bacteria?

A

Neisseria infections

33
Q

C1 inhibitor deficiency leads to what? What is the classic presentation of this?

A

Hereditary angioedema d/t overactivation of C1 and inflammatory response

Periorbital edema

34
Q

What is the defect in Ataxia-Telangiectasia? What is the classic triad of symptoms?

A
  • ATM gene, which is responsible for repairing double stranded breaks, is defective
  • Ataxia
  • Telangiectasia
  • IgA deficiency
35
Q

What are the brain findings of Ataxia-Telangiectasia?

A

Cerebellar atrophy

36
Q

What sort of imaging should never be done on pts with Ataxia-Telangiectasia?

A

Anything involving x-rays, d/t inability to repair double stranded breaks

37
Q

What are the Ig findings of Ataxia-Telangiectasia?

A

Decreased IgG, IgA, and IgE

38
Q

What is IL-12 receptor deficiency?

A

Low IL-12 decreased Th1 cells response, leading to disseminated mycobacterial and fungal infections

39
Q

When does IL-12 receptor deficiency classically present?

A

After BCG vaccination

40
Q

What is the inheritance pattern of IL-12 receptor deficiency?

A

AR

41
Q

What happens to IFN-gamma with IL-12 receptor deficiency?

A

Decreased d/t no Th1 cells to produce it

42
Q

What is AD hyper IgE-syndrome (Job syndrome)?

A

Deficiency of Th17 cells d/t STAT3 mutation.

-Leads to impaired recruitment of PMNs

43
Q

What are the classic features of Hyper IgE syndrome? (DRAFT)

A 
Dermatological problems
Respiratory infx
Abscesses
Facies are coarse
Two rows of Teeth
44
Q

What is the hallmark characteristic abscesses in Job syndrome?

A

They are cold (lacking typical s/sx of inflammation) d/t a lack of PMN chemotaxis

45
Q

What is the inheritance pattern of Job syndrome? Hyper IgE syndrome?

A

Job = AD

Hyper IgE = AR

46
Q

What is chronic mucocutaneous candidiasis?

A

T cell dysfunction 2/2 a variety of causes leads to recurrent, non invasive candidal infections

All the things continued (28 decks)

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