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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
What is the effect of DAF and CD59 deficiency?
autoimmune-like conditions including paroxysmal nocturnal hemoglobinuria
26
What is the effect of C1INH deficiency?
hereditary angloneurotic edema (HANE)
27
What is mannose binding lectin?
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
28
What is the effect of MBL deficiency?
* patients experience recurrent severe infections * no amplification of alternative pathway b/c normally MBL pathway amplifies C3 depostion.
29
What is the role of C1 inhibitor?
* binds to activated C1r:C1s, forcing them to dissciatefrom C1q * controls spontaneous activation of C1 that always occurs
30
What is the treatment for HANE?
monthly injections of C1INH replacement therapy
31
What is paroxymal nocturnal hemoglobinuria (PNH)?
a rare, acquired, potentially life-threatening disease charcterized by complement induced intravascular hemolytic anemia, red uring, and thrombosis
32
What causes PNH?
a genetic deficiency of glycophosphatidylinositol which is required for surface expression of CD59 and DAF on host cells
33
What is the treatment for PNH?
* 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
34
What is X-linked agammaglobulinemia?
* caused by defect in B cell development * defect in a protein tyosine kinase (Btk)
35
What is the role of Btk?
signal transduction protein involved in B cell development
36
What are patients with XLA susceptible to and why?
extracellular bacterial pathogens as well as many viruses b/c patients have very few B cells leaving patient with no humoral immune system
37
What is pre B cell receptor deficiency?
* caused by mutation in gamma 5 gene
38
What is the role of gamma 5?
a component of the surrogate light chain that pairs with the mu heavy chain during somatic recombination of light chain genes
39
What are patients with gamma 5 deficiency susceptible to and why?
both extracellular bacteria and many pathogns b/c they lack B cells
40
What is X-linked hyper IgM syndrome caused by?
* 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
What is the role of AID?
- required for isotype switching and somatic hypermutation - can still activate B cells but only IgM will be produced
42
What happens to germinal centers in hyper IgM syndrome?
there are no germinal centers b/c B cells can't be activated if there is a problem with CD40 problem
43
What is selective IgA deficiency?
* likely heterogeneous * most patients are healthy unless they are exposed to parasite pathogens
44
What are IgG1 deficiency details?
* rare * susceptible to many bacterial and viral pathogens * NK cells function isn't proper
45
What are details of IgG2 deficiency?
* most common in kids * suscetibile to encapsulated bacteria
46
What IgG deficiency is common in adults?
IgG3
47
What is common variable immunodeficiency (CVID)?
* have common features that typically include reduced levels of antibodies but different etiologies * causes are genetic
48
What are clinical presentations of CVID?
recurring infections mainly w/ bacterial and/or viral pathogens involving the ears, eyes, sinuses, nose, bronchi, lungs, etc
49
What happens when one has a TAP peptide transporter deficiency?
very low levels of MHC class I molecules and defective responses to IC pathogens due to CD8 t cell deficiency
50
What is another name for TAP peptide transporter deficiency?
bare lymphocyte syndrome
51
What happens when you have a CD8 alpha chain defect?
lack of Cd8 expression has same phenotype as a TAP transporter deficiency
52
What cells are affected when you have a non-sense mutation in perforin?
* NK cells and Cd8 T cells * reults in lower CTL activity so unable to induce programmed cell death of target cells
53
What can CD4 T cell defect result in?
severe combined immune deficiency (SCID) b/c 4 T cells are critical for both Ab and cell mediated immune response
54
What is Wiskott-Aldrich syndrome?
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
What is adenosine deaminase (ADA) or purine nucleotide phosphorylase deficiency?
results in accumulation of toxic nucleotide catabolites that kills developing B and T cells
56
What is the common gamma chain deficiency?
* 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
What happens with Jak3 deficiency?
the same phenotype as common gamma chain deficiency
58
What happens with a CD3 deficiency?
* lack of CD4 or CD8 T cells * total lack of T cell function
59
What is Omenn syndrome?
* 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
What are patients with Omenn syndrome susceptible to?
fungal, bacterial, and viral infections - essentially the same phenotype as common gamma chain deficiency
61
What is the treatment for Omenn Syndrome?
bone marrow transplant
62
What is DiGeorge Syndrome?
* results from small deletion in chromosome 22 * patients have underdeveloped or absent thymus * patients have very few if any T cells
63
What is the treatment for DiGeorge Syndrome?
thymic transplant
64
What is ZAP-70 Deficiency?
* 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
What is ZAP-70?
* protein tyrosine kinase that associates with phosphorylated ITAMS during signling via the TCR complex * required for signaling via the TCR
66
What is the treatment for ZAP-70 deficiency?
bone marrow transplant
67
What is Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED)?
results from genetic deficiency of a gene that encoved that autoimmune regulator (AIRE), results in many autoimmune syndromes
68
What is AIRE?
transcription factor that regulates expression of several hundred host-tissue specific genes by epithelial cells in thymic medulla (where negative selection occurs)
69
What is the role of the host-specific proteins that AIRE regulates?
serve as a source of self-proteins for presentation during thymic negative selection
70
What is Immune Dysregulation, polyendocrinopathy, enteropathy, x-linked syndrome (IPEX)?
* 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
What is the clinical presentation of IPEX?
1. watery diarrhea 2. eczematous dermatitis 3. endocrinopathy
72
What is the treatment for IPEX?
aggressive immunosuppression and/or bone marrow transplant
73
What is Autoimmune Lymphoproliferative Syndrome (ALPS)?
* 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
What is the treatment for ALPS?
immunosuppression and IVIg
75
What is the clinical presentation of ALPS?
lymphadenopathy, splenomegaly, autoimmune hemolytic anemia, neutropenia, etc
76
What is asplenia?
* can be an inherited or an acquired disorder * patient doesn't have a spleen
77
What are patient susceptible to when they have the inherited asplenia?
* 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
What causes acquired asplenia?
due to splenectomy following traumatic injury
79
What are some clinical interventions for asplenia?
* vaccination for encapsulated bacteria * phophylactic antibiotic treatment recommended prior to dental procedures and upon showing symptoms of respiratory infection or fever
80
What is leukocyte adhesion deficiency?
* defective CD18 adhesion cell molecule so prevents migration of phagocytes into infected tissues
81
What is chronic granulomatous disease?
defective NAPHD oxidase results in impaired killing of phagocytosed bacteria
82
What is G6PD deficiency?
defective respiratory burst results in impaired killing of phagocytosed bacteria
83
What is Myeloperoxidase deficiency?
impaired production of HOCl in neutrophils and monocytes resulting in impaired killing of phagocytosed bacteria
84
What is Chediak Higashi Syndrome?
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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