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Step 1 Immunology-First Aid 2017 > Immunodeficiencies > Flashcards

Immunodeficiencies Flashcards

1
Q

Disorder with recurrent bacterial and entoroviral infections after 6 months due to decreased maternal IgG more common in boys

A

Bruton (X-linked) agammaglobulinemia

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2
Q

Findings include absent B cells in peripheral blood, decreased Ig of all classes; absent/scanty lymph nodes and tonsils

A

Bruton (X-linked) agammaglobulinemia

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3
Q

Caused by a defect in BTK (tyrosine kinase gene) leading to no B cell maturation and XLR

A

Bruton (X-linked) agammaglobulinemia

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4
Q

Most common primary immunodeficiency associated with celiac disease with unknown defect

A

Selective IgA deficiency

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5
Q

Disease which has increased susceptibility to giardiasis and anaphylaxis after receiving blood products

A

Selective IgA deficiency

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6
Q

Presents with airway and GI infections, autoimmune disese, atopy and anaphylaxis; majority of time asymptomatic

A

Selective IgA deficiency

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7
Q

Common variable immunodeficiency has a defect in what cell types

A

B-cells (defect in differentiation)

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8
Q

Disease that presents after age 2 and may be considerably delayed with increased risk of autoimmune disease, bronchiectasis, lymphoma, and sinopulmonary infections

A

Common variable immunodeficiency

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9
Q

Disease that presents with recurrent sinopulmonary infections and lab findings of decreased plasma cells and immunoglobulins

A

Common variable immunodeficiency

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10
Q

Alternative name for thymic aplasia

A

DiGeorge syndrome

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11
Q

Common defect in DiGeorge syndrome

A

22q11 deletion

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12
Q

22q11 deletion in DiGeorge syndrome leads to…

A

failure to develop 3rd and 4th pharyngeal pouches causing absent thymus and parathyroids

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13
Q

Common findings in DiGeorge syndrome

A

Decreased T-cells, PTH and Calcium

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14
Q

X-ray findings in DiGeorge syndrome

A

Absent thymic shadow

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15
Q

Hypocalcemia in DiGeorge syndrome causes…

A

Tetany

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16
Q

T-cell deficiency in DiGeorge syndrome leads to…

A

recurrent viral/fungal infections

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17
Q

Common abnormalities in DiGeorge syndrome are…

A

conotruncal abnormalities like tetralogy of Fallot or truncus arteriosus

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18
Q

Disease with decreased IFN-gamma and decreased Th1 response that is autosomal recessive

A

IL-12 receptor deficiency

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19
Q

Disease that presents with disseminated mycobacterial infections due to decreased Th1 response and low IFN-gamma

A

IL-12 receptor deficiency

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20
Q

Disease that presents after administration of BCG vaccine and has low IFN-gamma

A

IL-12 receptor deficiency

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21
Q

Presents with thymic, parathyroid and cardiac defects

A

DiGeorge syndrome

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22
Q

IL-12 receptor deficiency has what inheritance pattern

A

Autosomal recessive

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23
Q

Bruton agammaglobulinemia has what inheritance pattern

A

X-linked recessive

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24
Q

Disease with impaired recruitment of neutrophils to sites of infection

A

Autosomal dominant hyper-IgE syndrome

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25
Q

Alternate name for autosomal dominant hyper-IgE syndrome

A

Job syndrome

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26
Q

Defect in Job syndrome

A

Deficiency of Th17 cells

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27
Q

Cause of Th17 cell deficiency in Job syndrome

A

STAT3 mutation

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28
Q

What Ig is increased in Job syndrome

A

IgE

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29
Q

Lab findings in someone with coarse facies, retained primary teeth and cold staphylococcal abscess

A

Decreased IFN-gamma, increased IgE and eosinophils

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30
Q

Common presentation for Job syndrome

A

FATED: coarse Facies, cold staphylococcal Abscess, retained primary Teeth, increased IgE, Dermatologic problems

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31
Q

Job syndrome has what inheritance pattern

A

Autosomal dominant

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32
Q

Defect in chronic mucocutaneous candidiasis

A

T-cell dysfunction

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33
Q

Patient with absent cutaneous reaction to Candida antigens will have a defect in what cell type

A

T-cell

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34
Q

Patient with chronic skin and mucous membrane infections with T-cell dysfunction has what disease

A

Chronic mucocutaneous candidiasis

35
Q

Patient presents with failure to thrive, chronic diarrhea and thrus with defective IL-2R gamma chain has what condition

A

Severe combined immunodeficiency

36
Q

What is the most common defect in SCID

A

Defective IL-2R gamma chain

37
Q

What is the inheritance patter in SCID

A

X-linked recessive if IL-2R

Autosomal recessive if adenosine deaminase deficieny

38
Q

What cells are defective in SCID

A

T-cells fail to develop leading to B-cell dysfunction

39
Q

Flow cytometry findings in SCID

A

T-cells

40
Q

Xray findings in SCID

A

Absence of thymic shadow

41
Q

Patient with absent thymic shadow on chest xray, absent germinal centers and no T-cells on flow cytometry is at risk for what type of infections

A

Recurrent viral, bacterial, fungal, protozoal infections and opportunistic infections like pneumocystis

42
Q

What is the treatment for SCID

A

Avoid live vaccines, give antimicrobial prophylaxis and IVIG

43
Q

What is the curative treatment for SCID

A

Bone marrow transplant

44
Q

Patient with recurrent viral, bacterial, fungal, protozoal infections and opportunistic infections like pneumocystis has what disease

A

SCID

45
Q

Defect in ataxia-telangiectasia

A

ATM gene

46
Q

ATM gene defect in ataxia-telangiectasia leads to…

A

failure to repair DNA double stranded breaks leading to cell cycle arrest

47
Q

Triad of ataxia-telangiectasia

A

Ataxia, spider angiomas, IgA deficiency

48
Q

What are the AFP levels in ataxia-telangiectasia

A

Increased AFP levels

49
Q

Ataxia-telangiectasia increases the risk of developing…

A

lymphoma and leukemia

50
Q

Common findings in ataxia-telangiectasia include…

A

Increased AFP levels, decreased IgA, IgG and IgE, lymphopenia and cerebellar atrophy

51
Q

Hyper-IgM syndrome defect

A

Defective CD40L on Th cells

52
Q

Defective CD40L on Th cells in hyper-IgM syndrome defect leads to…

A

class switching defect

53
Q

Hyper-IgM syndrome defect inheritance pattern

A

X-linked recessive

54
Q

Individual with opportunistic Pneumocystis or Cryptosporidium infection or CMV has what type of defect

A

Defective CD40L on Th cells seen in hyper-IgM syndrome

55
Q

Common findings in X-linked recessive disorder with defective CD40L on Th cells

A

Normal or increased IgM, markedly decreased IgG, IgA, and IgE with failure to make germinal centers

56
Q

Defect in Wiskott-Aldrich syndrome

A

WASp gene mutation

57
Q

Wiskott-Aldrich syndrome inheritance pattern

A

X-linked recessive

58
Q

Thrombocytopenia, eczema, and recurrent pyogenic infections are seen in…

A

Wiskott-Aldrich syndrome

59
Q

Wiskott-Aldrich syndrome increases the risk of…

A

autoimmune disease and malignancy

60
Q

WASp gene defect in Wiskott-Aldrich syndrome leads to…

A

leukocytes and platelets unable to reorganize actin filament leading to defective antigen presentation

61
Q

Common findings in Wiskott-Aldrich syndrome

A

Decreased to normal IgG, IgM
Increased IgE, IgA
Fewer and smaller platelets

62
Q

Leukocyte adhesion deficiency (type I) inheritance pattern

A

Autosomal recessive

63
Q

Leukocyte adhesion deficiency (type I) defect

A

Defective LFA-1 integrin (CD18) protein on phagocytes

64
Q

Defective LFA-1 integrin (CD18) protein on phagocytes in Leukocyte adhesion deficiency (type I) leads to…

A

impaired chemotaxis and migration of phagocytes

65
Q

Recurrent skin and mucosal bacterial infections with absent pus in infant with delayed separation of umbilical cord has a defect in…

A

LFA-1 integrin (CD18) protein on phagocyte

66
Q

Leukocyte adhesion deficiency (type I) presentation

A

Recurrent skin and mucosal bacterial infections with absent pus in infant with delayed separation of umbilical cord and impaired wound healing

67
Q

Common finding at infection site in baby with delayed separation of umbilical cord

A

Absence of neutrophils at infection site

68
Q

Chediak-Higashi syndrome inheritance pattern

A

Autosomal recessive

69
Q

Chediak-Higashi syndrome defect

A

Lysosomal trafficking regulator gene (LYST) defect

70
Q

Lysosomal trafficking regulator gene (LYST) defect in Chediak-Higashi syndrome leads to…

A

microtubule dysfunction in phagosome-lysosome fusion

71
Q

Failure to form phagolysosomes in patient with recurrent pyogenic staph and strep infections has what disease

A

Chediak-Higashi syndrome

72
Q

Chediak-Higashi syndrome common findings

A

Recurrent pyogenic staph and strep infections, partial albinism, peripheral neuropathy, progressive neurodegeneration, infiltrative lymphohistiocytis and neutropenia

73
Q

Individual with giant granules in granulocytes and platelets, pancytopenia and mild coagulation defects with failure to form phagolysosomes has a defect in…

A

lysosomal trafficking regulator gene (LYST)

74
Q

Chronic granulomatous disease (CGD) defect

A

NADPH oxidase defect

75
Q

NADPH oxidase defect in CGD leads to…

A

decreased ROS and respiratory burst in neutrophils

76
Q

CGD most common inheritance pattern

A

X-linked recessive

77
Q

CGD patients are susceptible to what type of organisms

A

Catalase positive

78
Q

Significance of catalase positive organisms in CGD

A

Catalase positive organisms can use H2O2 and prevent formation of ROS

79
Q

CGD flow cytometry test findings

A

Abnormal dihydrorhodamine test with decreased green fluorescence

80
Q

Nitroblue tetrazolium dye reduction test results…

A

Remains colorless - positive for CGD

Turns blue - normal NADPH oxidase

81
Q

Catalase positive organisms

A

S aureus, P cepacia, S marcescens, Nocardia, Apergillus, Candida

82
Q

MPO deficiency defect

A

Defective conversion of H2O2 to Hypochloride

83
Q

MPO deficiency NBT results

A

Normal NBT

84
Q

MPO deficieny increases risk of what infections

A

Candida infections

Step 1 Immunology-First Aid 2017 (30 decks)

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