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104 Cards in this Set

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