Term
| Defect in Bruton's agammaglobulinemia |
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Definition
Defect in Bruton's tyrosine kinase
Blocks b-cell differentiation/maturation |
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Term
| Presentation in Bruton's agammaglobulinemia |
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Definition
recurrent bacterial infections after 6 months of age
dec # of B cells
dec all Ig's |
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Term
| Defect in Hyper-IgM syndrome |
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Definition
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Term
| Presentation in Hyper-IgM syndrome |
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Definition
severe pyogenic infections early in life
inc IgM + dec all other Ig's |
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Term
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Definition
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Term
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Definition
acquired in late teens
inc risk of autoimmune diseases + sinopulmonary infections
normal # of B-cells
dec plasma cells + Ig's |
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Term
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Definition
X-linked: defective IL-2 receptor or Adenosine Deaminase Defeciency
both B and Tcell deficiency |
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Term
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Definition
recurrent viral, bacterial and fungal infections
inc adenine or dec IL-2R |
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Term
| Defect in Selective IgA deficiency |
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Definition
| specific class of isotype switching |
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Term
| Presentation in Selective IgA deficiency |
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Definition
sinus and lung infections
anaphylaxis on exposure to blood products with IgA |
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Term
| Defect in DiGeorge syndrome |
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Definition
| thymic aplasia: failure to develop 3rd and 4th pharyngeal pouches |
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Term
| Presentation in DiGeorge syndrome |
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Definition
fish lips, hypocalcemia, absent thymus, absent parathyroid
recurrent viral/fungal infections |
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Term
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Definition
AKA hyper-IgE syndrome
Th1 cells dont produce IFN-gamma -> inability of neutrophils to respond |
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Term
| Presentation in Job's syndrome |
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Definition
| coarse facies, eczema, retained primary teeth, inc IgE |
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Term
| Defect in Chronic Granulomatous disease |
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Definition
| lack of NADPH oxidase -> absence of reactive oxygen species |
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Term
| Presentation in Chronic Granulomatous disease |
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Definition
recurrent infections by catalse+ organisms such as S. aureus, E. coli and Aspergillus
negative Nitroblue tetrazolium dye reduction test |
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Term
| Defect in Ataxia-telangiectasia |
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Definition
| defect in DNA repair enzyme |
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Term
| Presentation in in Ataxia-telangiectasia |
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Definition
TRIAD:
1. wide gait (ataxia)
2. spider angiomas (teangiectasia)
3. IgA deficiency |
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Term
| Defect in Wiskott-Aldrich syndrome |
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Definition
| Progressive deletion of B and T cells |
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Term
| Presentation in Wiskott-Aldrich syndrome |
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Definition
TIE:
Thrombocytopenic purpura
Infections
Eczema |
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Term
| Defect in Leukocyte adhesion deficiency |
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Definition
| LFA-1 integrin (CD18) on phagocytes |
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Term
| Presentation in Leukocyte adhesion deficiency |
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Definition
recurrent bacterial infections w/o pus formation
delayed separation of umbilicus
Neutrophilia |
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Term
| Defect in Chediak-Higashi |
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Definition
| defect in microtubular function with dec phagocytosis |
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Term
| Presentation in Chediak-Higashi |
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Definition
recurrent pyogenic infections by staph and strep
partial albinism |
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