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14 Cards in this Set
- Front
- Back
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What is the subclassification of X-linked SCID and what are its features?
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T-B+ (lacking NK); lacks receptor for number of cytokines due to defect in the γ chain that maps to the X-some; B cells are present but non-functional due to lack of co-stimulation by CD40
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What are some key features of autosomal recessive SCID?
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T-B+ subtype; Jak3, IL-7Rα, or CD3 mutation
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What are some key features of ADA SCID?
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T-B-NK- subtype; leads to accumlation of toxic purin metabolites (dATP)
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What are some key features of X-linked agammaglobulinemia?
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Leads to a reduced number of preB cells (and no mature B cells), due to a mutated form of the Btk gene which is needed for signal transduction from the Pre-BCR to induce terminal differentiation. Infants affected after 6 months due to lack of maternal IgG. Common infections include H. influenzae, Strep pneumo, Giardia lamblia
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What are some key features of CVID?
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It's a heterogenous B cell disorder characterized by reduced IgG, IgA, and IgM. Peaks of onset at 1-5 and 15-20 years.
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What are some key features of DiGeorge syndrome?
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DiGeorge syndrome is a T cell immunodeficiency resulting from thymic hypoplasia. Newborns also have hypcalcemia due to a lack of parathyroid glands. A 22q11 deletion.
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What are some key features of X-linked hyper IgM syndrome?
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Due to a lack of expression of CD40L on T helper cells, B cells do not undergo class switching and secrete on IgM. Particularly susceptible to Pneumocystis carinii starting at 1-2 years.
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What are some key features of bare lymphocyte syndrome?
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This is a SCID subclass that occurs when there is an issue with the expression of HLA genes. It is particularly severe when MHC II is not expressed as B cells are reduced in number and cannot be stimulated to produce antibodies.
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What are some key features of the ZAP 70 mutation?
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It produces a SCID like clinical picture and leads to an absences of CD8 T cells.
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What are some key features of chronic granulamatous disease?
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It is caused by a mutation in the NADPH oxidase enzyme (X-linked subunit, recessive) leading to the survival of intracellular organisms and the formation of granulomas. Symptoms of hepatosplenomegaly and lymphadenopathy appear during years 1-2.
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What are some key features of leukocyte adhesion deficiency, including LAD1?
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It's a disorder where WBCs cannot adhere to the endothelium during an infection and migrate. With LAD1 a defect in the β subunit of integrin prevents their infection.
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What are some key features of Chediak-Higashi syndrome?
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A mutation in the LYST gene prevents organell protein trafficking. This leads to the accumulation of giant lysosomal granules, impaired fusion of the phagosome and lysosome, and poorly functioning phagocytes and NK cells.
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What is Wiskott-Aldrich syndrome?
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An X-linked disease in which a mutation in WASP (protein) affect the maturation and migration of both B and T cells. Bleeding, bacteria, allergies.
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What is ataxia telangiectasia?
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A leukocyte maturation disorder caused by a mutation in a gene coding for DNA repair. Characterized by gait abnormalities.
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