Acquired Immunodeficiencies Flashcards
1
Q
- Cellular Abnormality: Non-functional Bruton’s Tyrosine Kinase (BTK)
- Result: Inability of B cells to survive bone marrow development
- Susceptibility: EC Bacteria and some viruses
- Symptom: Underdeveloped tonsils
- Only B cell function is effected
A
X-Linked Agammaglobulinemia (XLA)
2
Q
- Cellular Abnormality: Defect in surrogate light chain from Lambda-5 gene
- Result: Inability of developing B cells to produce a pre-B cell receptor. All B cells undergo apoptosis
- Susceptibility: EC bacteria and viruses
A
Pre-B Cell Receptor (Lambda-5) Deficiency
3
Q
- Cellular Abnormality: Defect in CD40 ligand
- Result: Inability of helper T cells to activate B cells and macrophages. Almost all antibodies will be IgM, and will be in lower levels than normal
- Susceptibility:
- Symptom:
- Cannot activate effector T cells
A
X- linked hyper IgM Syndrome
4
Q
- Cellular Abnormality: AID deficiency
- Result: Unable to class-switch
- Susceptibility:
- Symptom:
- Have fully activated B cells
- IgM levels are higher levels than with patients with CD40 deficiency
- Still able to produce and activate effector T cells that can supply second signals of activation to B and T cells
A
X-linked hyper IgM Syndrome
5
Q
A person that can activate macrophages will have ________ in their secondary lymphoid tissues
A
Germinal Centers
6
Q
- Cellular Abnormality:
- Result: At risk for developing anaphylactic reactions following blood transfusions. Not tolerant to the IgA in a blood transfusion.
- Susceptibility:
- Symptom:
- Most common genetic immunodeficiency
A
Selective IgA Deficiency
7
Q
- IgG1 deficiency: susceptibility to many bacterial and viral pathogens
- IgG2 deficiency: Most common in kids; susceptible to encapsulated bacteria
- IgG3: common in adults
A
Selective IgG Deficiency
8
Q
- Most common primary immunodeficiency disorder
- Recurrent bacterial and viral infections in ears, eyes, nose, sinuses, lungs, GI, skin, etc.
- Hypogammaglobulinemia is typical, but not as big as XLA
A
Common Variable Immunodeficiency Disease
9
Q
- Cellular Abnormality: inherited defect in ATM gene that encodes DNA repair enzyme
- Result: deficient in both B and T cells, but not SCID. Patient has low numbers of lymphocytes (especially T cells) and low levels of IgA and IgE
- Symptoms: Cerebellar defects (ataxia), Spider angiomas (telangiectasia), IgA (or IgE) deficiency
- Elevated alpha-fetoprotein levels
A
Ataxia Telangiectasia
10
Q
- Cellular Abnormality: genetic deficiency of IL-12 or IL-12R
- Result: inability to generate Th1 type responses. They make much less IFN-Gamma than normal. There is an inability to fully activate macrophages.
- Susceptibility: mycobacterial infections
A
IL-12 Signaling Deficiency
11
Q
- Cellular Abnormality: genetic deficiency of STAT-3
- Result: Reduced production of IFN-Gamma by Th1 T cells
- Patients make immune responses highly polarized to Th2 phenotype
- Results with high concentration of IgE in blood
- Neutrophils do not répond to chemotactic signals
- Symptoms: eczema, recurrent abscesses w/ S. Aureus, broad nose, frontal bossing, deep set eyes, retention of primary teeth
A
Job’s Syndrome (Hyper IgE Syndrome)
12
Q
- Result: undefined T cell dysfunction
- Susceptibility: Candida sp. (albicans)
A
Chronic Mucocutaneous Candidiasis
13
Q
- Low numbers of CD8 T cells
- Result: few CD8 T cells receive positive selection in the thymus
- Also synonymous CD8 alpha chain defect
- Susceptibility: highly susceptible to viral and some IC bacterial pathogens
A
Tap Deficiency (Bare Lymphocyte Syndrome)
14
Q
- Non sense mutation of perforin
- Perforin is a critical effector molecule of CTLs and NK cells
- Susceptibility: highly susceptible to viruses and IC bacteria
A
Perforin Deficiency
15
Q
- Classic MCH class II version
- Patient lacks expression of MHC class II molecules
- Unable to mount acquired CD4+ T cell response or acquired B cell response
A
Bare Lymphocyte Syndrome (SCID)
