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104 Cards in this Set
- Front
- Back
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General result of PID:
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susceptibility to infection
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What does PID require?
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lifelong care
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What are the 4 main categories of primary immunodeficiency?
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-Tlymphs
-Blymphs -Phagocytes -Complement |
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What is the deficiency in Bcell and Complement PIDs?
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Immune responses to BACTERIAL infections
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What is the deficiency in Tcell PIDs?
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Immune responses to viral parasitic and fungal infections
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What are the main infections seen in phagocytic deficiencies?
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Skin and oral bacterial infections
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What are 4 primary clues to primary immunodeficiencies?
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-Persistent/recurrent infections
-Failure to respond to antibiotics -Opportunistic infections -History of family infant deaths |
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How should you test for PID?
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-Rule out HIV
-CBC and diff -Quantitate serum antibodies -Test for specific Ab responses |
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How can you test for Tcell immunity?
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Skin testing
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When would you do a test for complement?
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Neisseria infections
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What is the test for CGD?
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Nitro-blue dye reduction
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What will the NBT test show if the person does have CGD?
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No dye reduction
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What is the very earliest cell in the bone marrow
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Pluripotent stem cell
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What is the lymphoycte derivative of the pluripotent stem cell?
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The lymphoid stem cell
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What deficiency will result in no B or Tcells differentiating from the lymphoid stem cell?
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ADA deficiency
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Once the Bcell derivative of the lymphoid stem cell branches off, what does it become?
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A pro-B cell
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What makes a Pre-Bcell different from its precursor the Pro-B cell?
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The presence of IgM heavy chain
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What disease results from inability of the Pre-Bcell to differentiate into an immature Bcell?
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X-linked agammaglobulinemia
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What gene is mutated in X-linked agammaglobulinemia?
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the Btk gene
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What differentiates the immature B cell from the Pre-b cell?
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The presence of both IgM AND IgD
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What allows Bcells to interact with Thelper cells?
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CD40 and CD40L (latter on Tcells)
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What does T:B interaction result in?
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Class switching of immunoglobulin isotype.
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What disease results if CD40L is not expressed and T:B interactions cannot occur?
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Hyper-IgM syndrome
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What results if IgA class switching can't occur?
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IgA deficiency
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What is the first T-cell derivative of the lymphoid stem cell?
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A Pro-Tcell
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What distinguishes an immature Tcell from a Pro-Tcell?
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Presence of the Tcell receptor
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What disease results from lack of TCR expression?
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X-linked SCID
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What exactly causes X-linked SCID?
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A mutation in the cytokine receptor gamma chain.
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What does the immature Tcell differentiate into?
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CD4 or CD8 positive Tcells
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What disease results from inability of the immature Tcell to differentiate into either a thelper or tcytotoxic cell?
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DiGeorge syndrome
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What disease results from MHC Class II deficiency?
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Lack of CD4+ Thelper cells
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In what population does X-linked agammaglobulinemia mostly occur?
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MALES
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Does X-linked agammaglobulinemia ONLY occur in males?
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no there are sporadic cases in females.
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What gene is mutated in X-linked agammaglobulinemia?
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Xq21.22
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What is encoded by Xq21.22?
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Bruton's tyrosine kinase
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What fails to happen as a result of mutated tyrosine kinase encoded by Xq21.22?
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Pre-B cells fail to mature into Bcells.
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When does X-linked Agammaglobulinemia become apparent and how?
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At 6 months old; recurrent infections of the resp tract begin.
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What infections/agents will be seen?
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-H. influenzae
-Strep pneumo -Staph aureus Pyogenic extracellular bacteria |
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What can be a complication of the recurrent respiratory infections in X-linked Bruton's agammaglobulinemia?
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Bronchiectasis
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How can X-linked Agammaglob be diagnosed?
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By flow cytometry
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What would Flow cytometry indicate in X-linked agammaglob?
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No Bcells in the peripheral blood
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What are the diagnostic indicators of X-linked agammaglob?
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-No Bcells in PBS
-Tonsils and lymph nodes SMALL -All serum Igs low |
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What is the treatment for Bruton's agammaglob?
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IvIg - weekly for life
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What should be avoided in individuals with Bruton's agammaglob?
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Live viral vaccines
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What could immunizing patients with Bruton's agammaglob with live polio vaccine cause?
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Paralytic Poliomyelitis!
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What is CVID?
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Common variable immunodeficiency - a heterogenous group of disorders.
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What is the main feature of CVID?
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Hypogammaglobulinemia
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Why are levels of IgG low in CVID?
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Because though there are normal numbers of Bcells, plasma cells are nonexistent.
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When does the onset of symptoms of CVID occur?
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In childhood or adolescence
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What are the symptoms of CVID?
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Recurrent sinopulmonary pyogenic infections.
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How do the tonsils and lymph nodes in CVID compare to those in Bruton's agammaglobulinemia?
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THEY'RE BIG!
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Why are the tonsils and LN's big in CVID?
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Because the Bcells proliferate normally in response to antigen.
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What are patients with CVID at increased risk for?
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Lymphoid malignancy and gastric cancer
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If a person has recurrent respiratory, GI, and urogenital infections what would you look at?
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Serum IgA levels
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What is low levels of serum and secretory IgA?
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Isolated IgA deficiency
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What is the etiology of isolated IgA deficiency?
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Unknown
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What is found in 40% of patients with Isolated IgA deficiency?
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Serum IgA antibodies
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What are IgA deficient patients at risk of if they get blood transfusions?
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Anaphylactic reactions
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What causes Hyper-IgM syndrome?
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Defects in BOTH B and Tcells!
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What is mutated in Hyper-IgM syndrome?
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CD40 on Bcells
or CD40L on Thelper cells |
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Why are CD40L mutations even worse than CD40 mutations?
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Because then the Th cell can't interact with either Bcells to induce class switching, or Macrophages (IL12)
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What are the 2 prominent clinical features of Hyper IgM syndrome?
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-Recurrent pyogenic infections
-Pneumocystis carinii pneumonia |
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How is Hyper IgM syndrome diagnosed?
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-Low serum IgG and IgA
-High serum IgM -Tcells might not express CD40L when activated |
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How is Hyper IgM syndrome treated?
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By giving IvIg
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What disease is failure of development of the 3rd/4th pharyngeal pouches?
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DiGeorge syndrome
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What is the pathology seen in DiGeorge syndrome?
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Thymic hypoplasia so no Tcells develop.
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What is the result of Parathyroids failing to develop?
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Tetany
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What types of infection are DiGeorge syndrome patients susceptible to?
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Viral and Fungal
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What is NOT lacking in patients with DiGeorge?
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Plasma cells or immunoglobulins (but the latter could be low)
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What are the Severe Combined Immunodeficiency Diseases?
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A group of several genetically distinct syndromes.
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What type of infections are seen in patients with SCID?
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-Recurrent and severe
-Bacterial, fungal, and viral |
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What will happen to patients with SCID without treatment?
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Death within the first year of life
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What is the only treatment for SCID?
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Bone marrow transplant
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What is the genetic defect in X-linked SCID?
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A mutation in the gamma chain subunit of CYTOKINE RECEPTORS
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What signaling is defective in X-linked SCID?
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Il-7 signaling
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What is the cause of autosomal recessive SCID?
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ADA deficiency
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What is ADA?
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Adenosine deaminase
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What does lack of ADA result in?
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Failure of the Pre-B cell to differentiate into either CD4 or CD8 T cells
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What is the therapy for EITHER x-linked or autosomal recessive SCID?
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BMT
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What disease is indicated by Eczema, Thrombocytopenia, Recurrent infections and Early death?
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Wiskott Aldrich
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What is the result of the genetic mutation that causes Wiskott Aldrich?
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Cells are unable to reorganize the actin cytoskeleton.
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What does Wiscott-Aldrich lead to?
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Progresive depletion of Tcells in the blood and paracortex of lymph nodes
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What will flow cytometry show in Wiscott Aldrich?
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Depleted Tcells in PBS and lymph node paracortex areas.
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What will plasma Ig enumeration show in Wiscott Aldrich?
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-Low IgM
-Normal IgG -High IgA and IgE |
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What are patients with Wiscott Aldrich at increased risk of?
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Lymphoma
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What is the treatment for Wiscott Aldrich?
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BMT
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What complement deficiency is most common?
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C2
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Why is it good that C2 is the most common complement deficiency?
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Because it's not associated with any increased incidence of infections.
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What is C2 deficiency associated with?
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Increased incidence of SLE like autoimmune disease
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What complement deficiency is associated with increased pyogenic infections?
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C3
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What does C3 deficiency result in?
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-Recurrent pyogenic infections
-Immune mediated glomerulonephritis |
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What does defiency in terminal complement components lead to susceptibility to?
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Recurrent Neisserial infections
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What does C1 inhibitor deficiency lead to?
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Hereditary angioedema
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What is the inheritance of Hereditary angioedema?
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Autosomal dominant
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What are the clinical manifestations of Hereditary angioedema?
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Asphyxia, nausea, or vomiting after minor trauma or emotional stress
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What is the cause of the asphyxia and nausea and vomiting?
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-Skin edema
-Laryngial/GI mucosal edema |
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In what patients are attacks of angioedema sometimes reported?
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Those on ACE inhibitors
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Why do folks on ACE inhibitors get angioedema?
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Because of Bradykinin accumulation causing vasodilation capillary leakage and edema.
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How is Hereditary angioedema diagnosed?
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Low C1 inhibitor levels
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What is the disease in which NADPH oxidase is defective?
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Chronic granulomatous disease
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What infections will be seen in CGD?
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-Pneumonias
-Lymphadenitis -Skin and liver abscesses |
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Why do granulomas form in CGD?
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Because intracellular pathogens cannot be completely eliminated.
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What are common pathogens in CGD?
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-Staph aureus
-Aspergillus -Candida albicans |
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What is the treatment for CGD?
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Antibiotics
IFN-y |
