Glossary of Imunodeficiency states

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What are the majority of primary immunodeficincies due to? What comes after that?
B cells - 50%
Combined - 20%
Phagocytic 18%
Cellular 10%
Complement 2%
What are the 4 types of Bcell deficiencies?
1. Bruton's X-linked Agammaglob.
2. Common variable immunodeficiency (CVID)
3. Selective Ig disorders
4. Hyper IgM
What is the etiology of Bruton's agammaglobulinemia?
-Xlinked recessive
-All Ig low or absent.
What are symptoms of Bruton's aggamaglob?
-Acute, recurring pyogenic infections by 6 months old.
-Hi-freq autoimmune connective tissue disorders.
What are the lab findings in Bruton's aggamaglob?
-Bcells very low
-Total Ig low
Lymph count normal, but all T
How is Bruton's disease treated/
What is the etiology of CVID?
-Acquired or inherited
-Bcells recognize Ag, but can't differentiate to plasma cells.
What are symptoms of CVID?
-Chronic, recurrent pyogeni infections at ANY age.
-Hi-freq autoimmune diseases.
How does CVID differ from Bruton's?
Bcells are normal or just slightly decreased.
What is the most common selective Ig disorder?
IgA deficiency - shows low sIgA and IgA levels.
What are the symptoms of sIgA deficiency?
-Diminished mucosal defense
-Recurring sinopulmonary inf.
-Genitourinary tract infections
How is IgA defic. treated?
What is the etiology of HIM (hyper IgM)?
-Failure of Tcells to make CD40 ligand - all Ig stays M.
-70% X-linked
What are symptoms of HIM?
-Susc. to pyogenic/opportunistic infections.
What is used to treat HIM?
Granulocyte-macrophage CSF
What are the 2 Tcell deficiencies?
1. Di George syndrome
2. Nezeloff's syndrome
What is the etiology of Di George syndrome?
-Embryogenesis error
-Abnormal thymus/parathyroid gland/heart.
What are symptoms of Di George syndrome?
-Fungal/viral recurring infectns
-Fish mouth
-Weird muscle contractions
-Cardiac abnormalities
What are the lab findings in Di george?
-no CMI in tcell function tests
-Ig levels are normal
-low blood calcim
How can Di George syndrome be treated?
Give thymus transplant from a donor that is younger than 14 weeks to prevent GVHD.
What is the etiology of Nezelof's syndrome?
-Genetic error in thymic develp.
How do symptoms of Nezelof's compare to Di George?
-Both have recurring viral/fungal infections
-Nezelof is prone to malignancy.
What are the 2 types of SCID?
-X-linked, more common in U.S.
-Autosomal recessive - swiss type
What is the problem that makes SCID?
-Stem cells don't differentiate into T and B cells.
What are the lab findings in SCID?
literlaly nothing - aggamaglobulinemia, lymphopenia.
What are 2 types of partial combined immunodeficiency?
Ataxia - Telangiectasia
What is the etiology of Wiskott aldrich?
What are the X-linked ones?
-Bruton's Agammaglobulinemia
-X-linked SCID
What are the symptoms of Wiskott aldrich?
-Recurrent infections
-Bleeding problems
What are the lab findings in Wiskott aldrich?
-Low Tcells, normal B.
-Low IgM
other Ig's might be elevated.
What is the ataxia telangiectasia a deficiency of?
Combined T and B cell.
What unusual parameter is high in ataxia telangiectasia?
What are appropriate lab tests for B and T cell deficiencies?
To evaluate immunoglobulins:
-Electrophoresis, IEF
-Rate nephelometry, serology
What is CGD?
chronic granulomatous disease - deficiency of phagocytosis.
What test is done for abnormalities of phagocytosis?
NBT test - a dye that indicates action of granules; if they are deficient, it won't change color.
What type of defiency causes hereditary angioneurotic edema?
Deficiency of complement regulator - C1 esterase inhibitor.
What is another complement regulator deficiency?
PNH - paroxysmal nocturnal hemoglobinuria.

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