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MAD Exam 3 > Immunodeficiencies > Flashcards

Immunodeficiencies Flashcards

1
Q

immunodeficiencies of phagocyte dysfunction

A

*leukocyte adhesion deficiency
*Chediak-Hagashi syndrome
*chronic granulomatous disease

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2
Q

immunodeficiencies of B-cell dysfunction

A

*X-linked agammaglobulinemia (Btk deficiency)
*selective IgA deficiency
*common variable immunodeficiency

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3
Q

immunodeficiencies of T-cell dysfunction

A

*thymic aplasia (diGeorge syndrome)
*IL-12 receptor deficiency
*Job syndrome
*chronic mucocutaneous candidiasis

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4
Q

immunodeficiencies of B- AND T-cell dysfunction

A

*severe combined immunodeficiency (SCID)
*ataxia-telangectasia
*hyper IgM syndrome
*Wiskott-Aldrich syndrome

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5
Q

leukocyte adhesion deficiency - pathogenesis

A

*defect in LFA-1 integrin (CD18) on phagocytes
autosomal recessive
**leads to impaired migration and chemotaxis
*PHAGOCYTE DYSFUNCTION immunodeficiency

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6
Q

leukocyte adhesion deficiency - presentation

A

*recurrent skin and mucosal bacterial infections
*NO PUS formation
*impaired wound healing
*delayed detachment of umbilical cord

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7
Q

leukocyte adhesion deficiency - findings

A

*increased neutrophils in BLOOD (lack of neutrophil migration)
*ABSENT NEUTROPHILS AT INFECTION SITES

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8
Q

Chediak-Hagashi syndrome - pathogenesis

A

*autosomal recessive defect in LYST (lysosomal trafficking regulator gene)
*MICROTUBULE DYSFUNCTION in phagosome-lysosome fustion
*PHAGOCYTE DYSFUNCTION immunodeficiency

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9
Q

Chediak-Hagashi syndrome - findings

A

*GIANT GRANULES in platelets and PMNs
*pancytopenia
*mild coagulation defects

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10
Q

Chediak-Hagashi syndrome - presentation

A

*recurrent staph and strep infections
*partial albinism
*peripheral neuropathy
*progressive neurodegeneration

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11
Q

IL-12 receptor deficiency - pathogenesis

A

*autosomal recessive deficiency in IL-12 receptor, leading to LACK OF Th1 CELL RESPONSE
*T-CELL DYSFUNCTION immunodeficiency

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12
Q

IL-12 receptor deficiency - presentation

A

*recurrent, disseminated MYCOBACTERIAL and fungal infections

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13
Q

IL-12 receptor deficiency - findings

A

low levels of IFN-gamma

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14
Q

Job syndrome - pathogenesis

A

*aka autosomal dominant hyper-IgE syndrome
*Th17 deficiency - leads to an impaired ability to recruit neutrophils to a site of infection

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15
Q

Job syndrome - presentation

A

FATED:
*coarse facies
*staph abscesses
*retained primary teeth
*hyper-IgE
*dermatologic issues (ex. eczema)

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16
Q

Job syndrome - findings

A

*elevated IgE and eosinophils
*decreased IFN-gamma

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17
Q

chronic mucocutaneous candidiasis - pathogenesis

A

*T-cell dysfunction (multiple causes, though often due to a defect in the IL-17 pathway)

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18
Q

chronic mucocutaneous candidiasis - presentation

A

*noninvasive candida infections of the skin and mucous membranes

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19
Q

chronic mucocutaneous candidiasis - findings

A

*absent in vitro or cutaneous response to candida infections

20
Q

severe combined immunodeficiency (SCID) - pathogenesis

A

*defective IL-2 receptor (X-linked)
OR
*defective adenosine deaminase (ADA) [autosomal recessive]
*B AND T CELL DYSFUNCTION immunodeficiency

21
Q

severe combined immunodeficiency (SCID) - presentation

A

***failure to thrive, chronic diarrhea
*thrush, recurrent viral, fungal, bacterial, and protozoal infections

22
Q

severe combined immunodeficiency (SCID) - findings

A

*absent thymic shadow
*absent germinal centers
*scanty lymph nodes
*absent T cells

23
Q

severe combined immunodeficiency (SCID) - treatment

A

*BONE MARROW TRANSPLANT IS CURATIVE
*avoid live vaccines
*give prophylactic antibiotics
*environmental sterilization (bubble boy)

24
Q

ataxia-telangiectasia - pathogenesis

A

*autosomal recessive defect in the ATM gene, leading to an INABILITY TO REPAIR dsDNA BREAKS (lead to cell cycle arrest)
**B AND T CELL DYSFUNCTION immunodeficiency

25
Q

ataxia-telangiectasia - findings

A

*increased AFP
*decreased IgA, IgG, and IgE
*lymphopenia
*cerebellar atrophy
*increased risk of lymphoma and leukemia

25
Q

ataxia-telangiectasia - presentation

A

CLASSIC TRIAD =
1) ataxia (cerebellar defects)
2) angiomas (telangiectasias)
3) IgA deficiency

26
Q

Wiskott-Aldrich syndrome - pathogenesis

A

*X-linked recessive mutation in the WASp gene
*leads to an inability of leukocytes and platelets to reorganize the actin cytoskeleton, causing:
1) defective antigen presentation
2) defective platelets
*B AND T CELL DYSFUNCTION immunodeficiency

27
Q

Wiskott-Aldrich syndrome - results in higher risk of?

A

autoimmune disease and malignancy

28
Q

Wiskott-Aldrich syndrome - presentation

A

WATER:
*thrombocytopenia
*eczema
*recurrent pyogenic infections

29
Q

Wiskott-Aldrich syndrome - findings

A

*elevated IgE and IgA
*fewer and smaller platelets on blood smear

30
Q

thymic aplasia (diGeorge syndrome) - pathogenesis

A

22q11 deletion
*leads to failure to develop the 3rd and 4th pharyngeal pouches
*results in an absent thymus and parathyroids
*T CELL DYSFUNCTION immunodeficiency

31
Q

thymic aplasia (diGeorge syndrome) - findings

A

**LOW Ca2+
*decreased T cells
*low PTH
*ABSENT THYMIC SHADOW on CXR

32
Q

thymic aplasia (diGeorge syndrome) - presentation

A

CATCH-22:
*cleft palate
*abnormal facies
*thymic aplasia
*conotruncal abnormalities
*hypocalcemia
*22q11 deletion

33
Q

chronic granulomatous disease (CGD) - pathogenesis

A

*autosomal or X-linked mutation causing DEFECTIVE NADPH OXIDASE
*leads to failure to generate oxygen radicals for respiratory burst in neutrophils
*PHAGOCYTE DYSFUNCTION immunodeficiency

34
Q

chronic granulomatous disease (CGD) - presentation

A

heightened susceptibility to infection during the first year of life (pneumonia and abscesses of the skin)
*especially to CATALASE POSITIVE organisms

35
Q

chronic granulomatous disease (CGD) - findings

A

*neutrophils and macrophages fail to reduce NBT when a respiratory burst stimulus is applied
*altered flow cytometry results

36
Q

X-linked (Bruton’s) agammaglobulinemia - pathogenesis

A

*X-linked recessive defect in the BTK gene
*leads to lack of B-cell maturation
*B CELL DYSFUNCTION immunodeficiency
*do NOT give patients live vaccines

37
Q

X-linked (Bruton’s) agammaglobulinemia - presentation

A

*recurrent bacterial and enteroviral infections AFTER 6 MONTHS OF AGE
note - presents after 6 months because of decreased IgG from breastfeeding

38
Q

X-linked (Bruton’s) agammaglobulinemia - findings

A

*absent B cells in peripheral blood
*decreases in ALL immunoglobulin isotypes
*absent/scanty lymph nodes and tonsils

39
Q

selective IgA deficiency - presentation

A

*many patients are asymptomatic
*can present with airway and GI infections, atopy, autoimmune disease, and anaphylaxis to IgA-containing products
*B CELL DYSFUNCTION immunodeficiency

40
Q

selective IgA deficiency - findings

A

*low levels of IgA but normal levels of other immunoglobulins
*infections of the respiratory and GI tracts are common
*susceptible to GIARDIASIS

41
Q

hyper-IgM syndrome - pathogenesis

A

*due to mutated CD40L on helper T cells, leading to lack of class switching
*X-linked recessive
*B AND T CELL DYSFUNCTION immunodeficiency

42
Q

hyper-IgM syndrome - presentation

A

*severe pyogenic infections in early life
*susceptible to opportunistic infections

43
Q

hyper-IgM syndrome - findings

A

*normal or increased IgM
*severely decreased IgG, IgA, and IgE
*absence of germinal centers on lymph node biopsy

44
Q

common variable immunodeficiency - pathogenesis

A

defect in B-cell differentiation

45
Q

common variable immunodeficiency - presentation

A

*low plasma cells
*low immunoglobulins
*delayed presentation (> 2 yr old)
*increased risk of autoimmune disease, infection, and lymphoma

MAD Exam 3 (28 decks)

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