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Immunology Spring 2 > Inherited Immunodeficiencies > Flashcards

Inherited Immunodeficiencies Flashcards

1
Q

What is neutropenia?

A

an immune disorder characterized by low numbers of granulocytes, usually defined as a neutrophil count of less than 500 cells/ul

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2
Q

What the 3 most common types of neutropenia?

A
  1. Severe Congential Syndrome (Kostmann Syndrome)
  2. Cyclic Neutropenia
  3. Benign Chronic Neutropenia
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3
Q

What is severe congenital neutropenia?

A

an autosomal recessive disorder associated with a gene abnormality of granulocyte colony stimulating factor (G-CSF) or its receptors

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4
Q

What is cyclic neutropenia?

A

an AD disorder in which the neutropenia occurs every 2 to 4 weeks and lasts about a week. It is associated with a gene defect termed ELA-2

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5
Q

What is benign chronic neutropenia?

A

has low but not life-threatening neutropenia and is often asymptomatic

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6
Q

What are some primary immunodeficiencies associated with neutropenia?

A

x-linked hyper IgM syndrome and XLA, WHIM syndrome, and Griselli syndrom. Patients with this disorders produce neutrophil-specific autoantibodies that cause the neutropenia.

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7
Q

What are the 3 categories of NK cell deficiencies?

A

Absolute, classical, and functional

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8
Q

What is absolute NK cell deficiency?

A

involves either complete absence of NK and NKT cells or total lack of NK cell function

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9
Q

What is classical NK cell deficiency?

A

people with this lack NK cells and NK cell function.don’t Have NKT cells

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10
Q

What is functional NK cell deficiency?

A

normal/near normal NK cell numbers but absent or severely decreased NK cell function. Usually don’t have NKT cells

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11
Q

What is used to diagnose NK cell deficiency?

A

flow cytometry

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12
Q

What are some clinical presentations of NK cell deficiencies?

A

typically increased incidence and severity of viral and other infections

Examples include varicella virus, herpes virus, CMV, etc

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13
Q

What genetic deficiencies can lead to NK cell deficiency?

A
  1. defective formation of cytoplasmic granules
  2. defective perforin
  3. defects in development in bone marrow
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14
Q

What is NEMO deficiency?

A
  • also called x-linked hypohydrotic ectodermal dysplasia
  • genetic defect in a protein called NEMO
  • protein required for NFkB activity
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15
Q

What is NFkB needed for?

A

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

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16
Q

What activates NFkB?

A

most TLR signaling, used to control cytokine expression

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17
Q

What are some physical characteristics of people who have NEMO deficiency?

A

deep-set eyes, sparce and/or fine hair, conical or missing teeth, and often have a skin condition that leads to unusal blistering and changes in skin color

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18
Q

What are patients with NEMO deficiency susceptible to?

A

recurrent bacterial and viral infections

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19
Q

What is the treatment of NEMO deficiency?

A

biweekly injections of gamma globulin from healthy donor or bone marrow transplant.

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20
Q

Patients with complement deficiencies are susceptible to what?

A

extracellular bacteria, encapsulated bacteria (depletion of C3), and autoimmune-like disease b/c complement activity normally destroys RBC’s

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21
Q

What is the effect of C1, C2, and C4 deficiencies?

A

immune complex diseases

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22
Q

What is the effect of C3 and Factor I deficiency?

A

susceptibility to capsulated bacteria

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23
Q

What is the effect of C5-C9 deficiency?

A

susceptibility to Nisseria

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24
Q

What is the effect of Factor D and Factor P deficiency?

A

susceptibility to capsulated bacteria and Neisseria but no immune complex disease

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25
Q

What is the effect of DAF and CD59 deficiency?

A

autoimmune-like conditions including paroxysmal nocturnal hemoglobinuria

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26
Q

What is the effect of C1INH deficiency?

A

hereditary angloneurotic edema (HANE)

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27
Q

What is mannose binding lectin?

A

a protein that binds to mannose residues on the surface of bacteria; once bound, MBL becomes a substrate for MASP binding resulting in activation of the lectin complement casade

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28
Q

What is the effect of MBL deficiency?

A
  • patients experience recurrent severe infections
  • no amplification of alternative pathway b/c normally MBL pathway amplifies C3 depostion.
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29
Q

What is the role of C1 inhibitor?

A
  • binds to activated C1r:C1s, forcing them to dissciatefrom C1q
  • controls spontaneous activation of C1 that always occurs
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30
Q

What is the treatment for HANE?

A

monthly injections of C1INH replacement therapy

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31
Q

What is paroxymal nocturnal hemoglobinuria (PNH)?

A

a rare, acquired, potentially life-threatening disease charcterized by complement induced intravascular hemolytic anemia, red uring, and thrombosis

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32
Q

What causes PNH?

A

a genetic deficiency of glycophosphatidylinositol which is required for surface expression of CD59 and DAF on host cells

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33
Q

What is the treatment for PNH?

A
  • allogeneic bone marrow tranplant
  • complement component C5 specific monoclonal Ab is effective at reducing the need for blood transfusions, improving quality of life, and reducing the risk of thrombosis
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34
Q

What is X-linked agammaglobulinemia?

A
  • caused by defect in B cell development
  • defect in a protein tyosine kinase (Btk)
35
Q

What is the role of Btk?

A

signal transduction protein involved in B cell development

36
Q

What are patients with XLA susceptible to and why?

A

extracellular bacterial pathogens as well as many viruses b/c patients have very few B cells leaving patient with no humoral immune system

37
Q

What is pre B cell receptor deficiency?

A
  • caused by mutation in gamma 5 gene
38
Q

What is the role of gamma 5?

A

a component of the surrogate light chain that pairs with the mu heavy chain during somatic recombination of light chain genes

39
Q

What are patients with gamma 5 deficiency susceptible to and why?

A

both extracellular bacteria and many pathogns b/c they lack B cells

40
Q

What is X-linked hyper IgM syndrome caused by?

A
  • caused by defect in T cell function (helper function)
  • defect in CD40 ligand expression so B cells can’t receive secondary activation signal
  • can also be caused by AID deficienc
41
Q

What is the role of AID?

A
  • required for isotype switching and somatic hypermutation
  • can still activate B cells but only IgM will be produced
42
Q

What happens to germinal centers in hyper IgM syndrome?

A

there are no germinal centers b/c B cells can’t be activated if there is a problem with CD40 problem

43
Q

What is selective IgA deficiency?

A
  • likely heterogeneous
  • most patients are healthy unless they are exposed to parasite pathogens
44
Q

What are IgG1 deficiency details?

A
  • rare
  • susceptible to many bacterial and viral pathogens
  • NK cells function isn’t proper
45
Q

What are details of IgG2 deficiency?

A
  • most common in kids
  • suscetibile to encapsulated bacteria
46
Q

What IgG deficiency is common in adults?

A

IgG3

47
Q

What is common variable immunodeficiency (CVID)?

A
  • have common features that typically include reduced levels of antibodies but different etiologies
  • causes are genetic
48
Q

What are clinical presentations of CVID?

A

recurring infections mainly w/ bacterial and/or viral pathogens involving the ears, eyes, sinuses, nose, bronchi, lungs, etc

49
Q

What happens when one has a TAP peptide transporter deficiency?

A

very low levels of MHC class I molecules and defective responses to IC pathogens due to CD8 t cell deficiency

50
Q

What is another name for TAP peptide transporter deficiency?

A

bare lymphocyte syndrome

51
Q

What happens when you have a CD8 alpha chain defect?

A

lack of Cd8 expression has same phenotype as a TAP transporter deficiency

52
Q

What cells are affected when you have a non-sense mutation in perforin?

A
  • NK cells and Cd8 T cells
  • reults in lower CTL activity so unable to induce programmed cell death of target cells
53
Q

What can CD4 T cell defect result in?

A

severe combined immune deficiency (SCID) b/c 4 T cells are critical for both Ab and cell mediated immune response

54
Q

What is Wiskott-Aldrich syndrome?

A

defect in cytoskeletal reorganization that is needed for T cells to deliver cytokines and other signals to B cells and macrophages

  • leads to nonfunction T helper cells
55
Q

What is adenosine deaminase (ADA) or purine nucleotide phosphorylase deficiency?

A

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

56
Q

What is the common gamma chain deficiency?

A
  • it’s used as a signaling component for cytokine receptors and interacts with Jak3
  • leads to impaired signaling in failure of T cells to proliferate –> thus no effector cells
57
Q

What happens with Jak3 deficiency?

A

the same phenotype as common gamma chain deficiency

58
Q

What happens with a CD3 deficiency?

A
  • lack of CD4 or CD8 T cells
  • total lack of T cell function
59
Q

What is Omenn syndrome?

A
  • mis-sense mutation that leads to partially active RAG enzymes
  • absence of B cells and low numbers of oligoclonal autoreactive T cells
  • small TCR repertoire
60
Q

What are patients with Omenn syndrome susceptible to?

A

fungal, bacterial, and viral infections

  • essentially the same phenotype as common gamma chain deficiency
61
Q

What is the treatment for Omenn Syndrome?

A

bone marrow transplant

62
Q

What is DiGeorge Syndrome?

A
  • results from small deletion in chromosome 22
  • patients have underdeveloped or absent thymus
  • patients have very few if any T cells
63
Q

What is the treatment for DiGeorge Syndrome?

A

thymic transplant

64
Q

What is ZAP-70 Deficiency?

A
  • genetic defect that prevents expression of functional ZAP-70
  • patients have absence of CD8 T cells but normal numbers of non-functional CD4 T cells
65
Q

What is ZAP-70?

A
  • protein tyrosine kinase that associates with phosphorylated ITAMS during signling via the TCR complex
  • required for signaling via the TCR
66
Q

What is the treatment for ZAP-70 deficiency?

A

bone marrow transplant

67
Q

What is Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED)?

A

results from genetic deficiency of a gene that encoved that autoimmune regulator (AIRE), results in many autoimmune syndromes

68
Q

What is AIRE?

A

transcription factor that regulates expression of several hundred host-tissue specific genes by epithelial cells in thymic medulla (where negative selection occurs)

69
Q

What is the role of the host-specific proteins that AIRE regulates?

A

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

70
Q

What is Immune Dysregulation, polyendocrinopathy, enteropathy, x-linked syndrome (IPEX)?

A
  • results from genetic deficiency of FoxP3 expression in regulatory CD4 T cells
  • results in early onset autoimmunity to a variety of host tissues due to lack of T reg cell function
71
Q

What is the clinical presentation of IPEX?

A
  1. watery diarrhea
  2. eczematous dermatitis
  3. endocrinopathy
72
Q

What is the treatment for IPEX?

A

aggressive immunosuppression and/or bone marrow transplant

73
Q

What is Autoimmune Lymphoproliferative Syndrome (ALPS)?

A
  • results from immune cells failing to undergo apopotic death following an immune response
  • results from mutation that prevents expression of either Fas, Fas ligand, or caspase 10
74
Q

What is the treatment for ALPS?

A

immunosuppression and IVIg

75
Q

What is the clinical presentation of ALPS?

A

lymphadenopathy, splenomegaly, autoimmune hemolytic anemia, neutropenia, etc

76
Q

What is asplenia?

A
  • can be an inherited or an acquired disorder
  • patient doesn’t have a spleen
77
Q

What are patient susceptible to when they have the inherited asplenia?

A
  • encapsulated bacteria
  • especially susceptible to septic infections w/ certain pathogens b/c spleen is used to filter blood and macrophages that take up bacteria in the blood
78
Q

What causes acquired asplenia?

A

due to splenectomy following traumatic injury

79
Q

What are some clinical interventions for asplenia?

A
  • vaccination for encapsulated bacteria
  • phophylactic antibiotic treatment recommended prior to dental procedures and upon showing symptoms of respiratory infection or fever
80
Q

What is leukocyte adhesion deficiency?

A
  • defective CD18 adhesion cell molecule so prevents migration of phagocytes into infected tissues
81
Q

What is chronic granulomatous disease?

A

defective NAPHD oxidase results in impaired killing of phagocytosed bacteria

82
Q

What is G6PD deficiency?

A

defective respiratory burst results in impaired killing of phagocytosed bacteria

83
Q

What is Myeloperoxidase deficiency?

A

impaired production of HOCl in neutrophils and monocytes resulting in impaired killing of phagocytosed bacteria

84
Q

What is Chediak Higashi Syndrome?

A

Defect in vesicle fusion resulting in impaired phagocytosis due to inability of endosomes to fuse with lysosomes

Immunology Spring 2 (7 decks)

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