Immunology - clinical
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- what is the defect in Bruton's agammaglobulinemia?
- X-linked recessive defect in a tyrosine kinase gene associated with low levels of all classes of Igs
- this disorder occurs in boys and is associated with recurrent bacterial infections after 6 months of age, when levels of maternal IgG antibody decline
- Brutons agammaglobulinemia (B cells)
- this immune deficiency presents with tetany owing to hypocalcemia and recurrent viral and fungal infections
- DiGeorge syndrome/thymic aplasia (T cells)
- this immune deficiency is associated with congenital defects of heart and great vessels
- DiGeorge syndrome
- what ist eh chromosomal abnormality associated with DiGeorge syndrome?
- 22q11 deletion
- this is a defect in early stem cell differentiation and presents with recurrent viral, bacterial, fungal, and protozoal infections
- SCID - B and T cell deficiency
- failure to synthesize MHC II antigens, defective IL-2 receptors, and adenosine deaminase deficiency can all lead to what immune deficiency?
- SCID
- what does IL-12 receptor deficiency (decreased activation of T cells) present with?
- disseminated mycobacterial infections
- defect in CD40 ligand on CD4 T helper cells leads to inability to class switch; presents early in life with severe pyogenic infections
- hyper-IgM syndrome (decreased activation of B cells)
- this disorder is characterized by high levels of IgM and very low levels of IgG, IgA, and IgE
- hyper-IgM syndrome
- this syndrome is characterized by an X-linked defect in the ability to mount an IgM response to capsular polysaccharides of bacteria
- Wiskott-Aldrich syndrome (decreased activation of B cells)
- what is the triad of symptoms associated with Wiskott-Aldrich syndrome?
- infections, thrombocytopenic purpura, eczema (WIPE)
- this syndrome is associated with elevated IgA levels, normal IgE levels, and low IgM levels
- Wiskott-Aldrich syndrome
- this syndrome presents with recurrent 'cold' (noninflamed) staphylococcal abscesses, eczema, coarse facies, retained primary teeth, and high IgE levels
- Job's syndrome (decreased activation of macrophages)
- this syndrome is characterized by failure of gamma-interferon production by helper T cells; neutrophils fail to respond to chemotactic stimuli
- JOb's syndrome
- what is the defect in leukocyte adhesion deficiency syndrome?
- defect in LFA-1 adhesion proteins on phagocytes
- this syndrome presents early with severe pyogenic and fungal infections and delayed separation of umbilicus
- leukocyte adhesion deficiency syndrome
- how is Chediak-Higashi inherited?
- autosomal recessive
- this disease is marked by a defect in microtubular function and lysosomal emptying of phagocytic cells
- Chediak-Higashi disease
- this disease presents with recurrent pyogenic infections by staph and strep, partial albinism, and peripheral neuropathy
- Chediak-Higashi disease
- defect in phagocytosis of neutrophils owing to lack of NADPH oxidase activity or similar enzymes
- chronic granulomatous disease
- how is the diagnosis of chronic granulomatous disease confirmed?
- negative nitroblue tetrazolium dye reduction test
- this disease presents with marked susceptibility to opportunistic infections with bacteria, especially S. aureus, E. coli, and Aspergillus
- chronic granulomatous disease
- what is the defect in chronic mucocutaneous candidiasis present?
- idiopathic dysfunction of T cells specifically against candida albicans
- what is the most comon selective immunoglobulin deficiency? how does it present?
- selective IgA deficiency - presents with sinus and lung infections; milk allergies and diarrhea are common
- ataxia-telangiectasia is an idiopathic dysfunction of what type of cells?
- B cells
- defect in DNA repair enzymes with associated IgA deficiency; presents with cerebellar problems and spider angiomas
- ataxia-telangiectasia
- deficiency of what leads to hereditary angioedema?
- C1 esterase inhibitor
- deficiency of which complement protein leads to severe, recurrent, pyogenic sinus and RT infections?
- C3
- deficiency of what complement proteins leads to Neisseria bacteremia?
- C6-C8
- deficiency of what leads to paroxysmal nocturnal hemoglobinuria?
- decay-accelerating factor
- patients with what deficiency have an increased susceptibility to recurrent bacterial infections, especially with encapsulated bacteria
- C3 deficiency; not detected until later in life
- what is the most important immunological protective mechanism against blood-borne encapsulated organisms?
- IgG-mediated opsonization in the spleen
- Warthin-Finkeldy giant cell is pathognomonic for what?
- measles or the live attenuated measles vaccine
- Lyme arthritis is associated with what HLA?
- HLA-DR4
- patients with Wiskott-Aldrich syndrome have a 12% chance of developing what?
- non-Hodgkin's lymphoma
- test of choice to determine presence of circulating anti-Rh antibody?
- indirect Coombs test to measure IgG anti-Rh antibody
- low levels of all antibody classes
- common variable immunodeficiency
- spleen is important for removing what type of organisms? list 3
- strep pneumo, H. flu, Neisseria
- what is defective in leukocyte adhesion deficiency?
- integrins - function both in adhesion of leukocytes to other cells and in the phagocytosis of complement-coated material
- HLA types associated with SLE?
- HLA-DR2 and HLA-DR3
- most likely sequelae of rheumatic fever?
- mitral valve disease
- antitopoisomerase antibodies?
- scleroderma/systemic fibrosis - likely to develop diffuse systemic fibrosis & death from consequences of systemic disease such as pulmonary fibrosis or malignant hypertension
- what is responsible for strong binding between monocytes, T lymphocytes, macrophages, neutrophils, and dendritic cells, and injured epithelium?
- LFA-1; interacts with ICAM-1
- an increased level of what cytokine would decrease the likelihood of a delayed-type hypersensitivity reaction?
- IL-10
- what 2 molecules exert the most powerful chemotactic effect on neutrophils?
- C5a and C8
- what are the best markers for identification of B cells?
- CD19, CD20, CD21
- IgG subclass deficiency is associated with a deficiency with what other substrate?
- IgA
- what is C-reactive protein a marker of?
- non-specific inflammation - one of the most commonly measured acute-phase reactants