Term
| how are primary and secondary immune defiencies different? |
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Definition
| Primary are inherited and the deficiancy is the cause of the diesease whereas secondary defiencyies are the result of the disease |
|
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Term
| X-linked infantile agammaglobulinema (X-LA, Bruton's disease) |
|
Definition
defective B cell tryosine kinase
No B-cells
5 Ig istypes decreased
Small or absent tonsils & lymph nodes
only in males |
|
|
Term
| Transient Hypogammaglobulinemia |
|
Definition
delayed ability of B cells to produce IgG
Due to lack of help from CD4+ helper cells
low IgG |
|
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Term
| Common variable hypogammaglobulinemia |
|
Definition
B cells are present but don't differentiate so they dont secrete antibodies
decline in T cell function may occur with time
High frequency of autoimmune and malignancies |
|
|
Term
|
Definition
failure of terminal differentiation of IgA producing B cells
recurrent sinopulmonary and chronic diarrhea
autoimmunie disease is common (50%) |
|
|
Term
|
Definition
failure of terminal differentiation of IgG producing B cells
recurrent bacterial infections (ear, sinus, bronchitis) |
|
|
Term
|
Definition
B cells can't switch from IgM to other isotypes so other isotypes of absent or low
liver abnormalities |
|
|
Term
| Congenital thymic aplasia (DiGeorge Syndrome) |
|
Definition
interference in developement of pharryngeal pouches 3 & 4
No Thymus, parathyroid or T Cells
Hypocalcemia (tetany)
learning disabilites |
|
|
Term
| Chronic mucocutaneous Candidiasis |
|
Definition
selective T cell defect
Normal T cell responce to all other infections
Treatment: antifungals |
|
|
Term
| Severe combined immunodeficiency diseas |
|
Definition
defective stem cells so no B or T cells!
Skin rash is common
Treatment: bone marrow transplant, ADA gene therapy |
|
|
Term
|
Definition
| defective gene for y chain of IL-2 receptor |
|
|
Term
| adenosine deaminase (ADA) enzyme deficiency |
|
Definition
| ATP and dATP accumulate to toxic levels in lymphoid stem cells |
|
|
Term
|
Definition
| Lack HLA class 1 and/or class II |
|
|
Term
|
Definition
developemental arrest of precursor cells at a very early stage
No lymphocytes, granulocytes, monocytes
Death within a few weeks :( |
|
|
Term
|
Definition
mutations for gene encoding WASP
IgM is low and IgA is high
T cell count maybe normal at first and declines with age
Thrombocytopenia, abnormal platlets, bleeding and eczema |
|
|
Term
|
Definition
defective ATM gene that is needed for DNA repair
results in mutations in TCR genes and heavy chain genes
IgA is low
High incidence of leukemia/lymphoma
very susceptibile to radiation
muscle incordination and enlargement of blood vessels |
|
|
Term
| chronic granulomatous disease |
|
Definition
neutrophils, monocytes and macrophages are deficient
deficiency in NADPH oxidase resulting in granulomatous abscesses |
|
|
Term
|
Definition
neutrophils, monocytes & macrophages are deficient
mutated LYST gene
low levels of enzymes in large granules
Killing by phagocytic cells is delayed
low killing by NK and T cyctoxic cells
partial oculocutaneous albinism |
|
|
Term
| low c1, c2 and c4 vs. low c3 |
|
Definition
| c1,2,4 seen in autoimmune disease but don't increase suseptibility to bacterial infections (c3 does) |
|
|
Term
| what type of bacteria is most common in infections when there's a deficiency in C3, c5-9 |
|
Definition
|
|
Term
|
Definition
C1-inhibitor deficiency
increased activation of C1qrs, factor XII and kallikrein
leads to increased vascular permeability |
|
|
Term
| What can cause secondary immunodeficies? |
|
Definition
poor nutrition (developing countries) immunosuppressive drugs (USA)
protein loss - hypogammaglobulinemia
Infections - AIDS (infects CD4+ T cells) |
|
|
Term
| what are 3 B-cell deficiencies? |
|
Definition
1. X-linked infantile agammaglobulinemia
2. Transient hypogammagloblinemia
3. Common variable hypogammaglobulinemia |
|
|
Term
| What are 2 T-cell deficiencies? |
|
Definition
DiGeorge syndrome
Chronic mucocutaneous candidiasis |
|
|
Term
| What disease is caused by complement deficiency? |
|
Definition
|
|
Term
| what 2 diseases are caused by phagocytotic cell deficiency? |
|
Definition
Chronic granulomatous disease
Chediak-Higashi |
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