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Immuno block 2 > Immunodeficiencies > Flashcards

Immunodeficiencies Flashcards

1
Q

Name the affected genes, immune defect, susceptibility for asplenia

A

Affected genes=> not known

immune defect=> absence of the spleen

susceptibility=> encapsulated extracellular bacteria

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2
Q

Name the affected genes, immune defect, susceptibility for C3 deficiency

A

Affected genes=> C3

immune defect=> lack of C3

susceptibility=> recurrent infeciton with gram (-) bacteria

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3
Q

Name the affected genes, immune defect, susceptibility for paroxysmal nocturnal hemoglobinuria

A

Affected genes=> somatic and germline mutations in genes involved in phosphatidylinositol glycan biosynthesis

immune defect=> lack of DAF, HRF, and CD59

susceptibility=> lysis of erythrocytes by complement

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4
Q

Name the affected genes, immune defect, susceptibility for X-linked hypohidrotic ectodermal dysplasia and immunodeficiency

A

Affected genes=> NEMO

immune defect=> impaired activation of NFkB

susceptibility=> chronic bacterial and viral infections

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5
Q

Name the affected genes, immune defect, susceptibility for chronic granulomatous disease

A

Affected genes=> NADPH oidase

immune defect=> impaired neutrophil function

susceptibility=> chronic bacterial and fungal infections

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6
Q

Name the affected genes, immune defect, susceptibility for MBL deficiency

A

Affected genes=> MBL

immune defect=> lack of MBL

susceptibility=> susceptibiity to meningitis due to Neisseria meningitidis

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7
Q

Name the affected genes, immune defect, susceptibility for NK cell deficiency

A

Affected genes=> not known

immune defect=> absence of NK cells

susceptibility=> susceptibility to herpes virus infections

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8
Q

Name the affected genes, immune defect, susceptibility for X-linked hyper IgM syndrome

A

Affected genes=> AID or CD40L or CD40 or NEMO

immune defect=> no isotype switching or somatic hypermutation in B cells

susceptibility=> extracellular bacterial and fungal infections

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9
Q

Name the affected genes, immune defect, susceptibility for SCID

A

Affected genes=> RAG1 or RAG2

immune defect=> no gene rearrangements in B and T cells

susceptibility=> all types of infections

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10
Q

Name the affected genes, immune defect, susceptibility for Omenn syndrome

A

Affected genes=> RAG1 or RAG2 or Artemis

immune defect=> Impaired RAG function

susceptibility=> all types of infections

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11
Q

Name the affected genes, immune defect, susceptibility for bare lymphocyte syndrome

A

Affected genes=> TAP1 or TAP2

immune defect=> low MHC class I expression

susceptibility=> respiratory viral functions

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12
Q

Name the affected genes, immune defect, susceptibility for pre-B cell receptor deficiency

A

Affected genes=> lambda 5

immune defect=> lack of B cells and Abs

susceptibility=> persistent bacterial infections

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13
Q

Name the affected genes, immune defect, susceptibility for X-linked agammaglobulinemia

A

Affected genes=> Bruton’s kinase (BtK)

immune defect=> B cells blocked at pro-B cell stage

susceptibility=> recurrent bacterial infections

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14
Q

Name the affected genes, immune defect, susceptibility for Complete DiGeorge’s syndrome

A

Affected genes=> not known

immune defect=> absence of the thymus and T cells

susceptibility=> All types of infections

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15
Q

Name the affected genes, immune defect, susceptibility for autoimmune polyendocrinopathy candidiasis ectodermal dystrophy

A

Affected genes=>AIRE

immune defect=> reduced T cell tolerance to self antigens

susceptibility=> autoimmune diseases

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16
Q

Name the affected genes, immune defect, susceptibility for IPEX

A

Affected genes=> FOXP3

immune defect=> lack of regulatory t cells and peripheral tolerance

susceptibility=> autoimmune diseases

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17
Q

Name the affected genes, immune defect, susceptibility for ZAP-70 deficiency

A

Affected genes=> ZAP70

immune defect=> T cells that cannot signal through their receptors

susceptibility=> all types of infection

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18
Q

Name the affected genes, immune defect, susceptibility for Autoimmune lymphoproliferative syndrome

A

Affected genes=> Fas or FasL

immune defect=> englarged spleen and lymph nodes

susceptibility=> lymphomas and autoimmunities

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19
Q

Name the affected genes, immune defect, susceptibility for IgG2 deficiency

A

Affected genes=>not known

immune defect=> lack of IgG2

susceptibility=> encapsulated bacteria

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20
Q

Name the affected genes, immune defect, susceptibility for selective IgA deficiency

A

Affected genes=> not known

immune defect=> lack of IgA

susceptibility=> no major susceptiblility

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21
Q

Why are patients with asplenia especially susceptible to septic infections?

A

the spleen is one the blood filters and splenic macrophages take up bacteria in the blood

so when the spleen is not present (congential or acquired) then especially susceptible to encapsulated bacteria

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22
Q

What is the best treatment for asplenia patients?

A

vaccination for encapsulated bacterial pathogens

prophylactic antibiotic treatment prior to dental procedures or on showing symptoms of respiratory infection/fever

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23
Q

Why do inherited phagocyte defects lead to infection?

A

can have profound effct on the capacity of the host ot clear bacterial infections

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24
Q

What are the inherited phagocyte defect disease? (5)

A
  1. Leukocyte adhesion deficiency
  2. Chronic granulomatous disease
  3. Glucose-6-phosphate dehydrogenase (G6PD) deficiency
  4. Myeloperoxidase deficiency (catalyzes production of hypochlorous acid)
  5. Chediak-Higashi syndrome
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25
Q

What is the cellular abnormality, immune defect, and associated infections and other diseases of LAD?

A

Cellular abnormality=> Defective CD18

Immune defect=> defective migration of phagocytes into infected tissues

associated infections and other diseases=> widespread infections with capsulated bacteria

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26
Q

What is the cellular abnormality, immune defect, and associated infections and other diseases of CGD?

A

Cellular abnormality=> defective NADPH oxidase. phagocytes cannot produce O2

Immune defect=> impaired killing of phagocytosed bacteria

assoc. infections and other diseases=> chronic bacterial and fungal infections and granulomas

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27
Q

What is the cellular abnormality, immune defect, and associated infections and other diseases of G6PD deficiency?

A

Cellular abnormality=> Deficiency of G6PD and defective respiratory burst

Immune defect=> impaired killing of phagocytosed bacteria

assoc. infections and other diseases=> chronic bacterial and fungal infections which can cause anemia inducing by certain agents

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28
Q

What is the cellular abnormality, immune defect, and associated infections and other diseases of Myeloperoxidase deficiency?

A

Cellular abnormality=> deficiency of myeloperoxidase in neutrophil granules and macrophage lysosomes and impaired production of toxic oxygen species

Immune defect=> impaired killing of phagocytosed bacteria

assoc. infections and other diseases=> chronic bacterial and fungal infections

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29
Q

What is the cellular abnormality, immune defect, and associated infections and other diseases of Chediak-Higashi syndrome?

A

Cellular abnormality=> defect in vesicle fusion

Immune defect=> impaired phagocytosis due to inability of endosomes to fuse with lysosomes

assoc. infections and other diseases=> recurrent and persistent bacterial infections. granulomas. effects on many organs

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30
Q

What is a disorder characterized by low numbers of granulocytes with count of less than 500 cells/uL? What are the 3 most important types?

A

neutropenia

severe congenital neutropenia (kostmann syndrome)

cyclic neutropenia

benign chronic neutropenia

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31
Q

Kostmann syndrome is a neutropenia. Name its inheritance pattern, what is effected, and what will be damaged

A

autosomal recessive disorder

disorder with a gene abnormality of granulocyte colony stimulating factor (G-CSF) or its receptor (G-CSFR)

G-CSF stimulates granulocyte growth

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32
Q

What are some primary immunodeficiencies that have an associated neutropenia? What do some patients with these disorders produce?

A
  • X-linked hyper-IgM syndrome
  • XLA
  • WHIM
  • Griselli

neutrophil-specific autoAbs that cause neutropenia

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33
Q

What are the 3 NK cell deficiencies? What is necessary for this diagnosis?

A
  • Absolute NK cell deficiency (ANKD)
  • classical NK cell deficiency (CNKD)
  • functional NK cell deficiency (FNKD)

flow cytometry for NK cells and NKT cells helps diagnose

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34
Q

How are NK cell deficiencies presented?

A

highly variable but typically with increased incidence and severity of viral and other infections especially from

varicella zoster virus, herpes, cytomegaloviruses, EBV

MAI and other opportunistic pathogens

Trichophyton (fungus)

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35
Q

The genetic deficiency in NK cell deficiencies are what?

A

defective formation of cytoplasmic granules

defective perforin

defects in development in bone marrow

36
Q

What deficiency would disrupt NFkB activity? Why is this significant?

A

NEMO deficiency

(also called X-linked hypohydrotic ectodermal dysplasia and immunodeficiency)

NFkB is an important transcription factor for physical development as well as innate immunity

37
Q

How does a NEMO deficiency disrupt innate immunity? (specific)

A

most TLR signaling activates NFkB which controls cytokine expression

38
Q

What is the immunodeficiency of a NEMO deficiency and how should be treated?

A

patiens suffer from recurrent bacterial and viral infections (MAI is a common opportunistic pathogen involved)

biweekly injections of gamma globulin from a healthy donor; bone marrow transplant

39
Q

What are the 2 general deficiences of inherited complement? and what is the associated result?

A

deficiences of each of complement proteins identified and susceptibility to extracellular bacteria is result

deficiencies of complement reg proteins can cause problems that leave a

  • susceptibility to encapsulated bacteria (depletion of C3)
  • autoimmune-like disease complement activity destroys RBCs
40
Q

C1, C2 and C4 deficiency causes what?

A

immune complex disease

41
Q

What is a deficiency in C3 cause?

A

susceptibility to capsulated bacteria

42
Q

What would a deficiency in C5-C9 cause?

A

susceptibility to Neisseria

43
Q

What would a deficiency in Factor D, or properdin cause?

A

susceptibility to capsulated bacteria and neisseria but no immune complex disease

44
Q

What would a deficiency of Factor I cause?

A

similar effects to deficiency of C3

45
Q

What would a deficiency in DAF or CD59 cause?

A

autoimmune-like conditions including paroxysmal nocturnal hemoglobinuria

46
Q

What would a deficiency in C1INH cause?

A

herdeitary angioneurotic edema (HANE)

will not allow dissociation from C1 from C1q

remember that C1INH controls spontaneous activation of C1 that always occurs

47
Q

What is the clinical presentation of MBL deficiency?

A

experience recurrent severe infections

48
Q

What does paroxymal nocturnal hemoglobinuria result from? How does this present?

A
  • genetic deficiecy of glycophosphatidylinositol which is required for surface expression of CD59 and DAF
  • MAC formation disrupted

presents with complement induced intravascular hemolytic anemia, red urine, thrombosis

49
Q

What are the inherited Ab deficiencies? What do all these diseases result in? How are they treated?

A
  • XLE,
  • pre-B cell receptor deficiency
  • X-linked hyper IgM syndrome
  • selective IgA deficiency
  • selective IgG deficiency

Result => Ab deficiencies result in susceptibility to extracellular bacteria, especially encapsulated bugs that are resistant to phagocytosis

Treatment => montly injections of gamma globulin from healthy donors

50
Q

How does XLA affect B cell development? What is the final result?

A

it is a defect in a protein tyrosine kinase (Bruton’s tyrosine kinase) that is involved in the signal transduction for B cell development

NO HUMORAL IMMUNE SYSTEM so susceptible to extracellular pathogens and many viruses

51
Q

What does a pre-B cell receptor deficiency lead to?

A

non-functional surrogate light chain results is inability of developing B cells to produce a pre-BCR

they all undergo apoptotic death

susceptible to extracellular and viral pathogens

52
Q

X-linked hyper IgM syndrome can be casued by what 2 mechanisms?

A
  • Defect in T helper function stemming from a defect in CD40 ligand expression so B cells do not receive secondary activation signal
  • caused by activation-induced cytidine deaminase deficiency (AID) because it is required for isotype switching and somatic hypermutation
53
Q

if you have a selective IgA deficiency, what are you susceptible to?

A

parasite pathogens

54
Q

If you have a selective IgG deficiency in IgG1, what are you susceptible to?

A

bacterial and viral pathogens

very rare

55
Q

In an IgG2 deficiency, what are patients susceptible to?

A

encapsulated bacteria

most common in kids

56
Q

What is the most common primary immunodeficiency disorder?

A

common variable immunodeficiency

57
Q

What are the 3 types of defects in CD8 T cell function?

A

TAP peptide transporter deficiency

CD8 alpha chain defect

non-sense mutation of perforin

58
Q

What is the result TAP peptide transporter deficiency and CD8 alpha chain defect?

A

they both have the same phenotype associated with lack of CD8 expression due to no (+) selection during thymic development

deficient in response to intracellular pathogens associated with low levels of MHC I

59
Q

If you have no TAP, then you have no what gene products?

A

HLA

60
Q

What is the result of a non sense mutation of perforin?

A
  • dramatically or totally reduced CTL activity
  • NORMAL NUMBERS OF CD8
  • unable to induce programmed cell death of target cells
61
Q

What other immune cell type have reduced function in non-sense mutation in perforin?

A

CTL, effector cells, NK cells

62
Q

What defects result in SCID(severe combined immune deficiency) phenotype? why?

A

CD4+ T cell

critical to bother Ab-mediated and cell-mediated immune responses

63
Q

What are the diseases that lead to SCID as a result of T cell function?

A
  • bare lymphocyte syndrome
  • Wiskott-Aldrich syndrome
  • adensoine deaminase (ADA) or purine nucleotide phosphorylatse deficiency
  • common gamma chain deficiency
  • Jak3 deficiency
  • CD3 deficiency
64
Q

What is bare lymphocyte syndrome caused from?

A

lack of expresion of mHC class II molecules

65
Q

Wiskott-aldrich syndrome is a defect in T cell function leading to SCID. What is defected in this disease?

A

cell cross-talk deficiency

defect in cytoskeletal reorganization needed for T cells to deleiver cytokines and other signals to B cells and macrophages

66
Q

ADA is a defect in T cell function leading to SCID. What is the result of this defect?

A

accumulation of toxic nucleotide catabolites that kills developing B and T cells

67
Q

Common gamma chain deficiency is caused by a defect in T cell function leading to SCID. What is impaired and what is the result? What is the most important deficiency cytokine altered?

A

gamma chain makes up many signaling components and interactes with Jak3

**impaired signaling results in failure of T cells to proliferate **

NO effector cells

**IL-2 which promotes T cells **

68
Q

Jak 3 deficiency is caused by a defect in T cell function leading to SCID. What does it impair and the result?

A

impaired signaling results in failure of T cells to proliferate

NO effector cells

69
Q

Name the diseases from defects in B and T cell function that lead to SCID

A
  • Omenn
  • patients develop fungal, bacterial, viral infections
  • DiGeorge syndrome
  • complete DiGeore syndrome
  • ZAP-70 deficiency
    *
70
Q

Omenn syndrome is associated with defects in B and T cell function that causes SCID. What mutations are associated and what is the result?

A

mis-sense mutations that result in partially active RAG enzymes

results => absence of B cells and low numbers of oligoclonal autoreactive T cells

NO acquired immune response

71
Q

Patients who evelop fungal, bacterial, and viral infections are typical of SCID and are generally a result in defects in B and T cell function. What is the associated phenotype?

A

impaired signaling results in failure of T cells to proliferate

NO effector cells

72
Q

Which 3 diseases that cause skid have the same phenotype? what is the phenotype?

A
  1. common gamma chain deficiency
  2. Jak3 deficiency
  3. fungal, bacterial, viral infections

impaired signaling resulting in failure of T cells to proliferate

NO effector cells

73
Q

DiGeorge’s syndrome is a defect in B and T cell function that causes SCID. What does it result from and what is its prevalence?

What characteristic phenotypes are shown?

A

results from small deletionin chromosome 22 with an incidence rate of 1/4000

phenotypes => congenital heart disease, palatal abnormalities, learning disabilities, hopocalcemia, mild facial differences

74
Q

What is the primary difference in DiGeorge’s syndrome and complete DiGeorge’s syndrome?

A

“complete” is much more rare

complete => absent or underdeveloped (nonfunctional) thymus so very few/any T cells

75
Q

ZAP-70 deficiency is a defect of B and T cell function leading to SCID. What causes this disease?

A

cause=> genetic defect that prevents expression of functional ZAP-70

76
Q

What is ZAP-70 and what is it required for?

A

a tyrosine kinase that associated with phosphorylated ITAMs during signaling via the TCR

TCR is required for signaling via the TCR

77
Q

Why do patients with a ZAP-70 deficiency result in SCID?

A

absence of CD8 T cells

normal amount but NON-FUNCTIONAL CD4 T cells

78
Q

Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is a result of what deficiency? What is the phenotype of the patient?

A

autoimmune regulator (AIRE)=> transcription factor regulating expression of several hundreg host-tissue specific genes by epithelial cells in thymic medulla

results in development of a myriad of autoimmune syndromes

These host-specific proteins serve as a source of self-proteins for presentation during thymic negative selection

79
Q

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) results from what deficiency? How would a patient present?

A

results from genetic deficiency of FoxP3 expression in regulatory CD4 T cells

presents in early onset autoimmunity to a variety of host tissue de to lack of Treg cell function

80
Q

People with IPEX will complain most commonly of the clinical triad of what manifestations? Kids will display what other diseases?

A
  1. watery diarrhea
  2. eczematous dermatitis
  3. endocrinopathy (type I diabetes)

Most kids also display Coombs-positive anemia, autoimmune thrombocytopenia, autoimmune neutropenia, tubular nephropathy

81
Q

Autoimmune lymphoproliferative syndrome (ALPS) is a genetic diseae characterized by what? What is the result of this disease?

A

lymphadenopathy and splenomegaly due to mutation that prevents expression of either Fas, FasL or caspase 10

results form immune cells failing to undergo apoptotic death following immune response

overpopulation of 2nd lymphoid tissue

82
Q

Patients with ALPS often have a large number of what?and what will they present with?

A

large nuber of CD4- CD8- T cells (double negative)

present with hemolytic anemia, neutropenia, decresed platelets,

83
Q

What does factor P do in the complement cascade?

A

binds to C3 convertase of the alternative pathway and stabilizes it

results in longer lived C3 convertase and lower deposition of C3b via the alternative pathway

84
Q

What will factor I lead to?

A

down regulation of the immune system

85
Q

What is the treatment for inherited Ab deficiencies?

A

monthly injections of gamma globulin from healthy donors

86
Q
A

Immuno block 2 (9 decks)

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