Term
| Severe Combined Immunodeficiency |
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Definition
Defect: IL-2 receptor deficiency(x-linked; the cause 80% of the time)
adenosine deaminase deficiency
Failure ot synthesize MHC II antigens
Presentation: recurrent, VIRAL, BACTERIAL, & FUNGAL infections.
Treatment: bone marrow transplantation. There is no possibility of graft rejection |
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Term
| Hyper IgE(Job's Syndrome) |
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Definition
Defect: Th1 cells fail to produce inf-gamma leading to inability of neutrophils to resod ot chemotatic stimuli
Presentation: FATED
coarse FACES
cold staph ABSCESSES
retained PRIMARY TEETH
hyper IGE
DERMATOLOGIC problems |
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Term
| Chronic Granulomatous Disease |
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Definition
Defect: Lack of NADPH oxidase-->decrease in reactive oxygen species.
Presentation: susceptible to catalse positive organisms
Staph, E. coli, aspergillus
Lab: Nitroblue tetrazolium test |
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Term
| Bruton's agammaglobulinemia |
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Definition
Defect: BTK(tyrosine kinase)-->blocks B-cell maturation
Presentation: recurrent bacterial infections after 6 months. DECREASED number of B cells |
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Term
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Definition
Defect: CD40L on T-helper cells cannot interact with B-cell and force a class switch.
Presentation: Severe pyogenic infections early in life |
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Term
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Definition
| Most common is IgA deficiency. Severe anaphylactic reaction upon exposure to IgA containing blood products |
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Term
| Common Variable immunodeficiency |
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Definition
Defect: B-cell immaturity, many causes
Presentation: The occurance of immundeficiency presenting in the 20-30's. NORMAL number of B cells. |
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Term
| Thymic aplasia(DiGeorge syndrome) |
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Definition
Defect: 22q11 deletion
Presentation: Tetany, recurrent VIRAL & FUNGAL infections, congential heart and great vessel defects |
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Term
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Definition
Defect: inability to produce IL-12. Therefore cannot stimulate Th1 cells to produce inf-gamma.
Presentation: Lack to cytotoxic t-cell response leads to disseminated mycobacterial infections |
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Term
| Chronic mucocutaneous candidiasis |
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Definition
| T-cell dysfunction. Candida albicians infection of skin and mucous membranes |
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Term
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Definition
Defect in DNA repair enzymes
Presntation: Triad
cerebellar defects(Ataxia)
spider angiomas(telangiectasia)
IgA defiency |
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Term
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Definition
Defect: X-linked defect causing progressive deletion of B and T cells
Presentation: TIE
Thrombocytopenia purpura
Infections
Eczema
Labs: decreased IgM increased IgE IgA |
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Term
| Leukocyte adhesion deficiency |
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Definition
Defect: missing LFA-1(CD-18) on PHAGOCYTES
Presentation: ABSCENT PUS, delayed umbilicus seperations |
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Term
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Definition
Defect: microtubular funciton with decreased phagocytosis
Presentation: pyogenic infections, intracellular inclusions, PARTIAL ALBINISM AND PERIPHERAL NEUROPATHY |
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