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Immunodeficiencies Flashcards

1
Q

Ataxia, telangectasias, sinopulmonary infections

A

Ataxia-Telangectasia

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2
Q

Oculocutaneous albinism, pyogenic infections, progressive neurologic dysfunction

A

Chediak-Higashi syndrome

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3
Q

Severe bacterial and fungal infections, granuloma formation

A

Chronic granulomatous disease

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4
Q

Congenital heart disease, dysmorphic facies, hypocalcemia

A

DiGeorge syndrome

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5
Q

Severe bacterial and viral infections in infancy, chronic diarrhea, mucocutaneous candidiasis

A

Severe combined immunodeficincy

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6
Q

Recurrent Neisseria infection

A

Terminal complement deficiency

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7
Q

Recurrent infections that worsen with age, easy bleeding, eczema

A

Wiskott-Aldrich syndrome

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8
Q

Which disorders are X-linked?

A
  • Bruton’s agammaglobulinemia
  • One type of SCID
  • Hyper-IgM syndrome
  • Chronic granulomatous disease
  • Wiskott-Aldrich syndrome
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9
Q
  • Defect in BTK (tyrosine kinase)
  • B cell deficiency - low levels of all Igs
  • X -linked recessive, Increased incidence in Boys
  • Recurrent bacterial infections after 3-6 mos
A

Bruton agammaglobulinemia

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10
Q

What selective Ig deficiency is most common?

  • Most appear healthy
  • Sinus and lung infections
  • Atopy, autoimmune disease, asthma
  • Anaphylaxis to blood transfusions, blood products
A

Selective IgA deficiency

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11
Q

Defect in B-cell differentiation

  • presents after age 2, may be delayed
  • Increased risk of autoimmune disease, bronchiectasis, lymphoma, sinopulm infections
  • Decreased plasma cells, Igs
A

Common variable immunodeficiency

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12
Q

22q11 deletions

  • Failure to develop what pharyngeal pouches?
  • Tetany, recurrent viral/fungal infections, conotrunal abnormalities
  • ABSENT THYMIC SHADOW
A

DiGeorge Syndrome - Thymic aplasia

  • Third and fourth pouches fail to develop
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13
Q

Decreased Th1 response

  • AR
  • Disseminated mycobacterial and fungal infections
  • Decreased IFN-g
A

IL-12 receptor deficiency

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14
Q

Deficiency of Th17 cells due to _____ mutation

  • impaired recruitment of neutrophils to sites of infection
  • High levels of IgE and eosinophils
  • Eczema, recurrent cold abscesses, course facial features
  • Retained primary teeth
A

Hyper-IgE syndrome (Job syndrome)

STAT3

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15
Q

T cell dysfunction

  • Noninvasive Candida infections of skin/mucus membranes
  • Absent in vitro T-cell proliferation to candida
A

Chronic mucocutaneous candidiasis

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16
Q

Several types - most common is deficiency of _________

  • Defect in early stem cell differentiation
  • Triad:
    • severe recurrent infection - candida, RSV, VZV, HSV, flu, para, PCP
    • chronic diarrhea
    • failure to thrive
  • No thymic shadow on x-ray
A

Severe combined immunodeficiency

  • Adenosine deaminase
17
Q

Failure to repair double strand DNA breaks

  • Defects in ATM gene
  • Cell cycle arrest
  • Poor smooth pursuit of moving target with eyes
  • X-ray sensitivity
  • What is the classic triad?
  • Increased AFP
A

Ataxia-telangiectasia

  • Ataxia, spider Angiomas, IgA deficiency

A - ataxia
T - telangiectasia
A - acute leukemia/lymphoma increased risk
X - x-ray sensitivity
I - IgA deficiency
A - increased AFP!

18
Q

Increased IgM, failure to make germinal centers

  • Low levels of other Igs
  • most commonly due to defective CD40L on Th cells (class switching defect)
  • Can also be due to no CD40 on B cells
  • Severe pyogenic infections
A

Hyper-IgM syndrome

19
Q

Defective antigen presentation, unable to reorganize actin cytoskeleton

  • mutation in WASp gene
  • Thrombocytopenia
  • Eczema
  • Recurrent pyogenic infections
  • Low IgM, high IgA
A

Wiskott-Aldrich syndrome

20
Q

Defect in _____ protein on phagocytes

  • Impaired migration and chemotaxia

AR

  • Recurrent skin and mucosal bacterial infections, absent pus, impaired wound healing - Delayed separation of umbilical cord!
  • Increased neutrophils, but absence of neutrophils at infection sites
A

Leukocyte adhesion deficiency (type 1)

-LFA-1 integrin (CD18)

21
Q

Defect in ______

  • Microtubule dysfunction in phagosome-lysosome fusion
  • AR
  • Recurrent pyogenic infections by staph/strep
  • Partial albininsm, peripheral neuropathy, progressive neurodegeneration
  • Giant granules in granulocytes and platelets
A

Chediak-Higashi syndrome

  • LYST
22
Q

Defect in __________

  • Decreased reactive oxygen species and decreased respiratory burst in neutrophils
  • X-linked R most common
  • Increased susceptibility to catalase + organisms (S. aureus, Aspergillus)
  • fails to turn blue on nitroblue tetrazolium dye reduction test
A

Chronic granulomatous disease

  • NADPH oxidase

First Aid (24 decks)

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