I2: Diseases

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X-linked agammaglobulinemia

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congenital in males with delayed onset of 6 months

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signs and symptoms of X-linked aggamglobulinemia

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otitis media, diarrhea, pneumonia, sinusitis

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pathogenesis of X-linked agammaglobulinemia

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imparied bruton's tyrosine kinase expression expression in pre-B cells

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in X-linked agammaglobulinemia, there are

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reduced-to-absent B cells inperipheral lymphoid tissues

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selective IgA deficiency is the most

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common primary Ab deficiency

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often there are ____ which can ____ but in IgA deficiency ____

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normal B cells which can make IgA but in IgA deficiency, secretory IgA cannot be made

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half of the IgA deficiency patients are

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asymptomatic because the Ig receptor can bind IgA and IgM so the IgM will compensate

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transient hypogammaglobulinemia has an onset of ___ and patients with this have ____

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5 to 6 months
normal numbers of B and T cells but low numbers of Ig production in neonate

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signs and symptoms of transient hypogammaglobulinemia

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recurrent otitis media, pneumonias, diarrhea

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a child with hypogammaglobulinemia may

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recover

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methods to diagnose B cell deficiencies

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serum protein electrophoresis
quantitative immunoglobulins
isohemagglutinin titer
Ab responses to immunization (protein and polysaccharide)

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treatment of B cell deficiencies

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Antibiotics as needed
IVIG (every 3 weeks)
Stem cell reconstitution is rarely lused

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T cell deficiencies are ____ that progress______

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early onset of infections that progress rapidly and disseminate

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T cell deficiencies lead to _____

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intracellular pathogens, especially virla, fungal

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DiGeorge syndrome has ____

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congenital thymic hypoplasia

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signs/symptoms of DiGeorge syndrome

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lymphopenia, moderate hypogammaglobulinemia, Ca++ imbalance, cardiac disease

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DiGeorge syndrome also shows

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early onset viral and fungal infections

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Examples of T cell signaling defects

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ZAP-70
CD3 deficiency
CD4-associated Lck kinase deficiency
CD154 coreceptor deficiency: Hyper IgM syndrome

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Hyper IgM-1 syndrome has an absence of

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CD154 on Th cells

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CD154 =

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ligand for the CD40 co-receptor on B cells

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Hyper IgM syndrome leads to

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poor signaling for Ig class switching

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Bare lymphocyte syndrome-II is primarily a mutation in

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transcription factor CIITA

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mutations in CIITA lead to

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failure to express MHC class II in thymus

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if MHC II is not present there is

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poor development of CD4+ T cells due to imparied positive selection

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signs of bare lymphocyte syndrome II

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peripheral CD4 lymphopenia and poor activation of CD4+ T cells in periphery

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bare lymphocyte syndrome I has mutations in

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TAP genes which leads to defective class I expression

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in bare lymphocyte syndrome I there is impaired

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development of CD8+ T cells

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family of congenital Th1 defects

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IFN-gammaR1 deficiency
IL-12BR1 deficiency
IL-12 deficiency
all of these produce susceptibility to infections

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Ig Locus deletions results in

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normal B cell number but no IgG1, IgG2, IgG4 or IgA1

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Ig locus deltions have no

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increased susceptibility to infection
one Ig class can compensate for the absence of another in providing protective immunity

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ZAP-70 Deficiency can manifest early

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in life as severe opportunistic viral and fungal infections

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the number of circulating CD4+ cells is ____ and the number of circulating CD8+ T cells is ____and they both

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increased
decreased
don't respond normally to antigenic stimulation in vitro

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CD3 deficiencies result in

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severe lymphopenia and the inability of thymocytes to signal through pre-TCR- there is no pre-TCR

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CD3 deficiency does not allow

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positive selection to occur

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AIDS infects

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CD4+ cells, DC and macrophages

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AIDS leads to

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severe lymphopenia by destroying the helper T cell subset

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yc deficiencies lead to

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multiple cytokine receptor deficiencies
defective lymphocyte development and poor isotype switching in B cells

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ADA enzyme catalyzes the

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breakdown of adenosine to inosine

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deficiencies in ADA lead to

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increase in intracellular adenosine, deoxyadenosine (ATP, dATP)
inhibition of methyl transferase reactions
thymocyte, mature T, B and NK cell toxicity
Progressive T-B-NK- phenotype and severe lymphopenia

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ADA deficiency is

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autosomal recessive

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Wiscott Aldrich Syndrome is a _____ with ______

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combined immune deficiency with thyrombocytopenia

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wiscott aldridch syndrome protein controls

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kinase signaling to actin cytoskeleton

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Wiscott Aldrich Syndrome patients have _______ but ________

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near normal Ig but poor antibody responses to T-independent polysaccharide antigens

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patients with wiscott aldridch syndrome have

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infections with encapsulated extracellular bacteria; and later intracellular pathogens

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Wiscott aldrich syndrome causes

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progressive lymphopenia and defective humoral and cellular immunity

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presentation of T cell and combined immune deficiencies

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early onset, opportunistic viral/fungal infections; later extracellular bacteria

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tests to test for T cell and combined immune deficiencies

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CBC, lymphocyte counts, CD3,4,8 and CD4:CD8 ratios
anti-HIV antibodies
Intradermal skin testing for delayed hypersensitivities
MLR

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treatments for SCID

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stem cell transplantation

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treatments for DiGeorge

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thymus transplantation

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treatment for ADA deficiency, hyper IgM syndrome

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gene therapy?

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cyclic neurtopenia is a deficiency in

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neutrophil elastase

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therapy of cyclic neutropenia

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recombinant CSF-G therapy

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leukocyte adhesion defect leads to

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altered neutrophil extravasation and opsonophagocytosis

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LAD-1 is the absence of

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CD18 (LFA-1, CR3, CR4)

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therapy for Leukocyte adhesion defect

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antibiotics and stem cell transplantation

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diagnosis for complement deficiencies

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immunoassays for individual components
hemolytic complement assay for activity

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AIDS has

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CD4+ depletion

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AIDs patients sometimes have

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kaposi Sarcoma

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Kaposi Sarcoma is caused by

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HHV-8

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morbidity of AIDS caused by

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opportunistic intracellular infections

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Autoimmune lymphoproliferative syndrome Canae-Smith Syndrome has mutated____which leads to ____

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mutated Fas (CD95) leads to lots of CD4/CD8 cells

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Autoimmune polyendocrine syndrome has mutated

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transcription factor autoimmune regulator which usually regulates the expression of self-antigens

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symptoms of polyendocrine syndrome

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chronic muccocutaneous candidiasis, hypoparathyroidism, and adrenal insuffiency

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Celiac Disease patients have _____

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gluten intolerance

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when gluten intolerance is present there is an________

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inflammatory response with Th1, CD8 T cells/ plasma cells and cause damage to GI endothelial tissue

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chediak-Higashi Sydrome patients have defective____ and ____

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lysosomal traffickig regulator
poor killing of infected/phagocytosed cells

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Chediak-Higashi Syndrome leads to

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platelet defects

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Chrohn's Disease involves____

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inflammation in intestine

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Chrohn's disease causes

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intestinal damage and granulomas

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treatment of Chrohn's disease

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Anti-TNF-Ab

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Common Variable Immunodeficiency is characterized by defective _______ and _______ with increased risk of ____

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B cell maturation
low Ig levels
autoimmune/lymphoma

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cyclic neutropenia has mutated ___

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neutrophil elastase

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treatment of cyclic neutropenia

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G-CSF

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Factor I deficiency

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cannot destroy C3 convertases
leads to complement deficiency

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Goodpasture syndrome

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autoantibodies for type Iv collagen in BM

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symptom of goodpasture syndrome

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nephritis

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Grave's Disease

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autoantibodies agonistic to TSH-R

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Grave's Disease symptoms

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hyperthyroidism

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Graft vs. Host Disease occurs when

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the donor cells attach recipient

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Hashimoto thyroiditis

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autoimmunity to follicles of thyroid

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Hemolytic disease of newborn occurs when

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Rh negative mother creates Ag against Rh-positive child RBC

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test to determine hemolytic disease of newborn

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Coombs

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Rogam

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clears fetal RBC from mom
inhibits B cell activation

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Hereditary angioedema leads to

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low C1 inhibitor leels

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C1 inhibitor regulats

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C1 complex, XII, kallikrein, plasmin

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Hyper-IgE syndrome caused by

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low IFN-gamma
increased IgE switching

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infectious mononucleosis called by

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EBV which increases CD8+ cell

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Job's syndrome

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poor IFN-gamma- neutrophils fail to respond to chemotactic stimuli

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Multiple sclerosis (MS) caused when

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microglia express B7 and demyelinate CNS

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MS is a type ___reaction

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IV

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remember! B7 cross reacts with

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CD28 on T cells

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multiple myeloma patients have ____

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high serum Ig and high L chains
Also have high IL-1, TNF, IL-6

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myasthenia gravis

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autoantibodies against AchR

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Myasthenia Gravis results in a type _____ reaction

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II

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Pernicious anemia results in

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no B12 absorption
autoimmune attack on gactric

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Rheumatoid arthritis is a result of

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inflammation and production of rheumatoid factor

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rheumatoid factor is

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an autoantibody to Fc of IgG

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Rheumatic Fever results from

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auto-antibodies that cause cross-reaction and damage heart/joints

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rheumatic fever shows type ___ reaction

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II

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Sjogren syndrome leads to destruction of

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destruction of lacrimal and salivary glands

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Autoantibodies of sjogren syndrome

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ANA
SS-A
SS-B

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Systemic Lupus Erythematosus patients have this diagnostic autoantibody

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anti-dsDNA

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symptoms of lupus

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fever, arthralgia, arthritis, myalgia, photosensitivity, skin rashes, anemia, glomerulonephritis, hpercoagulative state

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death from lupus occurs by

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renal failure and intercurrent infections

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systemic sclerosis (scleroderma) causes

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fibrosis in skin and organs caused by damage to small blood vessels

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ANA of systemic sclerosis

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anti-topoI and anti-centromere

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Toxic Shock Syndrome caused by this microbial agent

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gram positive

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TSS caused by

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superantigen (TSST)

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tumor antigens

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oncogene
tumor suppressor genes
overexpressed genes
gene silence
ongogenic viruses
oncogetal antigens
differentiation/associated antigen

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how tumor cells evade the immune system

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weak immunogenicity
lack of co-stimulation (tolerance)
low to absent expression of MHC I
suppressive tumor activities
IDO deposition
immunosuppressive cytokines
Receptors on T cells Down-regulating T cell activation (CTLA4 & PD-1)