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Kaplan: Immunology > Chapter 11: Primary Immunodeficiencies > Flashcards

Chapter 11: Primary Immunodeficiencies Flashcards

1
Q

List some defects of phagocytic cells?

A
  • CGD
  • Leukocyte adhesion deficiency
  • Chediak-Higashi synndrome
  • Glucose-6-phosphate dehydrogenase deficiency (G6PD)
  • Myeloperoxidase deficiency
  • Hyperimmunoglobulin E syndrome (formerly Job syndrome)
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2
Q

Defect in CGD?

A

deficiency of NADPH oxidase (any one of 4 component proteins); failure to generate superoxide anion, other O2 radicals

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3
Q

Symptoms of CGD?

A

recurrent infections with catalase-positive bacteria and fungi

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4
Q

Defect in LAD?

A

absence of CD18 - common β chain of the leukocyte integrins

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5
Q

What are 3 integrins the contain CD18?

A

LFA-1, MAC-1 and gp150/95

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6
Q

What are the symptoms of LAD?

A

recurrent and chronic infections, failure to form pus, and delayed separation of umbilical cord stump

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7
Q

What are the defects found in Chediak Higashi syndrome?

A

nonsense mutation in the lysosomal trafficking regulator, CHS1/LYST protein, leads to aberrant fusion of vesicles

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8
Q

What are some of the symptoms found in Chediak Higashi?

A

recurrent infection with bacteria; chemotactic and degranulation defects; absent NK activity, partial albinism

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9
Q

What are the defects found in G6PD deficiency?

A

deficiency of essential enzyme in hexose monophosphate shunt

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10
Q

Symptoms of G6PD deficiency?

A

Same as CGD, with associate anemia

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11
Q

Defect in myeloperoxidase deficiency?

A

defect in MPO affect the ability to convert hydrogen peroxide to hypochlorite

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12
Q

Symptoms of myeloperoxidase deficiency?

A

mild or none

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13
Q

What is the defect found in Job syndrome?

A

Defects in JAK-STAT signaling pathway leading to impared Th17 function; decreased IFN-gamma production.

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14
Q

What are the symptoms of Hyperimmunoglobulin E syndrome?

A

Characteristic facies, severe recurrent sinopulmonary infections, pathologic bone fractures, retention of primary teeth, increased IgE, eczematous rash

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15
Q

List some defects of humoral immunity.

A

Bruton (X-linked) agammaglobulinemia, X-linked hyper-IgM syndrome, selective IgA deficiency, common variable immunodeficiency, transient hypogammaglobulinemia of infancy

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16
Q

What is the defect found in Bruton (X-linked) agammaglobulinemia)?

A

deficiency of the Bruton tyrosine kinase (btk), which promotes pre-B cell expansion; faulty B-cell development

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17
Q

What are some symptoms of Bruton agammaglobulinemia?

A

increased susceptibilty of encapsulated bacteria and bloodborne viruses, low immunoglobulins of all isotypes, absent or low levels of circulating B- cells stage while maintaining cell mediated immunity

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18
Q

How do you treat Bruton agammaglobulinemia?

A

monthly gamma-globulin replacement, antibiotics for infection

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19
Q

What is the defect in X-linked hyper-IgM syndrome?

A

deficiency of CD40L on activated T cells

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20
Q

What are some signs/symptoms of X linked hyper-IgM syndrome?

A

high serum titers of IgM without other isotypes, normal B and T-cell numbers, susceptibility to encapsulated bacteria and opportunistic pathogens

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21
Q

How do you treat X-linked hyper-IgM syndrome?

A

antibiotics and gammaglobulins

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22
Q

What is the cause of selective IgA deficiency?

A

multiple genetic causes

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23
Q

What are some signs and symptoms of selective IgA deficiency?

A

decreased IgA levels and normal IgM and IgG with elevation of IgE. Repeated sinopulmonary and gastrointestinal infections, inc. atopy

24
Q

How do you treat selective IgA deficiency?

A

antibiotics, not immunoglobulins

25
Q

What are the molecular defects found in common variable immunodeficiency?

A

collection of syndromes; several associated genetic defects

26
Q

What are the signs and symptoms of common variable immunodeficiency?

A

onsets in late teens, early twenties, B cells present in peripheral blood, immunoglobulin levels decrease with time; inc. autoimmunity

27
Q

What is the treatment for common variable immunodeficiency?

A

antibiotics

28
Q

What is the defect in transient hypogammaglobulinememia of infancy?

A

delayed onset of normal IgG synthesis

29
Q

What are the signs and symptoms of transient hypogammaglobulinemia of infancy?

A

detected in month 5-6 of life, resolves months 16 - 30; susceptibility to pyogenic bacteria

30
Q

What is the treatment option for transient hypogammaglobulinemia of infancy?

A

antibiotics and in severe cases, gamma-globulin replacement

31
Q

What are the 3 types of deficiencies in complement components?

A

classic pathway, both pathways, and deficiencies in complement regulatory proteins

32
Q

What are the deficiencies in the complement classic pathway?

A

C1q, C1r, C1s, C4, C2

33
Q

What are the signs/diagnosis of the classic pathway complement deficiency?

A

marked increase in immune complex diseases, inreased infections with pyogenic bacteria

34
Q

What are some deficiencies in both pathways of the complement pathway?

A

C3 & C5, C6, C7, C8, or C9

35
Q

What are the deficiencies in complement regulatory proteins?

A

C1-INH (hereditary angioedema)

36
Q

C3 defiency signs/diagnosis?

A

recurrent bacterial infections, immune complex disease

37
Q

C5, C6, C7, C8, or C9 deficiency signs/diagnosis?

A

recurrent meningococcal and gonococcal infections

38
Q

What are the signs/diagnosis of hereditary angioedema?

A

overuse of C1, C4, or C2, edema at mucosal surfaces

39
Q

List some T-cell deficiencies and combined deficiencies

A
  • DiGeorge Syndrome
  • MHC class I deficiency
  • Wiskott-Aldrich Syndrome
  • Ataxia telangiectasia
  • Severe combined immunodeficiency (SCID)
  • Bare lymphocyte syndrome (MHC class II deficiency
40
Q

Di George syndrome and MHC class I deficiency is referred to overall as what type of deficiencies?

A

selective T cell deficiency

41
Q

Wiskott-Aldrich Syndrome and Ataxia telangiectasia are collectively referred to as what type of deficiencies?

A

Combined partial B- and T cell deficiency

42
Q

SCID and Bare lymphocyte syndrome/ MHC class II deficiency are collectively known as what type of deficiencies?

A

complete functional B- and T- cell deficiency

43
Q

What is the defect found in DiGeorge syndrome?

A

Heterozygous deletion of chromosome 22q11; failure of formation of 3rd and 4th pharyngeal pouches, thymic aplasia

44
Q

What are the clinical manifestations of DiGeorge Syndrome?

A

characteristic facies and a clinical triad of cardiac malformation, hypocalcemia and hypoplastic thymus

45
Q

What is the defect found in MHC class I deficiency?

A

failure of TAP 1 molecules to transport peptides to endoplasmic reticulum

46
Q

What are the clinical manifestations of MHC class I deficiency?

A

CD8 T cells deficient, CD4+ T cells normal, recurring viral infections, DTH and Ab production normal

47
Q

What is the defect in WAS?

A

defect in the WAS protein which plays a critical role in actin cytoskeleton rearrangement (which lead to defect in ag presentation)

48
Q

What are the clinical manifestation of WAS?

A

defective responses to bacterial polysaccharides and depressed IgM, gradual loss of humoral and cellular responses, thrombocytopenia, and eczema

IgA an IgE may be elevated

Triad:
eczema, thrombocytopenia, immunodeficiency

49
Q

What is the defect in ataxia telangiectasia?

A

defect in the ATM kinase involved in the detection of DNA damage and progression through the cell cycle

50
Q

What are the common manifestation of ataxia telangietasia?

A

ataxia (gait abnormalities), telangiectasia (capillary distortions in the eye), deficiency of IgA and IgE production

51
Q

What is the defect found in SCID?

A

3 of them

  1. defects in common y chain of IL-2 receptor (present in receptors for IL-4, -7, -9, -15) X- linked
  2. Adenosine deaminase deficiency (result in toxic metabolic products in cells)
  3. rag 1 or rag 2 gene nonsense mutations
52
Q

SCID caused by defects in the common y chain of IL-2 produce what symptoms?

A

chronic diarrhea; skin, mouth, and throat lesions; opportunistic (fungal) infections; low levels of circulating lymphocytes; cells unresponsive to mitogens

53
Q

SCID caused by ADA deficiency leads to what clinical manifestations?

A

clinical overlap with X-linked SCID plus neurologic deficiency

54
Q

SCID caused by rag1 or rag2 deficiency leads to what clinical manifestations?

A

total absence of B+ T cells

55
Q

Bare lymphocyte syndrome is caused by what deficiency?

A

failure of MHC class II expression, defects in transcription factors

56
Q

What are the clinical manifestations of bare lymphocyte syndrome?

A

T cells present and responsive to nonspecific mitogens no GVHD, deficient in CD4+ T cells, hypogammaglobulinemia, Clinically observed as a severe combined immunodeficiency

Kaplan: Immunology (16 decks)

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