Term
| Bruton's Agammaglobulinemia |
|
Definition
| X-linked recessive; defective Tyrosine Kinase gene -> low levels of all classes of Ig's AND low levels of B-cells -> Recurrent Bacterial Infections (after 6 months old when mom's passive immunity decline) |
|
|
Term
| Common Variable Immunodeficiency |
|
Definition
| NORMAL number of B-cells, but low levels of all types of Ab's -> Recurrent Bacterial Infections |
|
|
Term
| Selective Immunoglobulin Deficiency |
|
Definition
| Deficiency in one specific class of Ig, may be due to defective isotype switch; Selective IgA is most common -> Sinus and Lung Infections |
|
|
Term
|
Definition
| 22q11 Deletion -> failure of 3rd and 4th Pharyngeal Arches to develop -> Thymic and Parathyroid Aplasia -> Tetanus (due to low Ca) and Recurrent Viral/Fungal Infections (due to low T-cells) |
|
|
Term
| Chronic Mucocutaneous Candidiasis |
|
Definition
| T-cell dysfunction specifically against Candida albicans -> skin and mucous membrane Candida infections |
|
|
Term
| Severe Combined Immunodeficiency (SCID) |
|
Definition
| defect in early stem cell differentiation -> low levels of T and B cells -> recurrent viral, bacterial, fungal, and protazoal infections |
|
|
Term
|
Definition
| X-linked; defect in ability to mount an IgM response to capsular polysaccharides of bacteria (normal IgE, elevated IgA) -> Triad: Recurrent Pyogenic infxns, Eczema, Thrombocytopenia |
|
|
Term
|
Definition
| defect in DNA repair enzymes -> IgA deficiency, Cerebellar problems, Spider angiomas (Telangiectasia) |
|
|
Term
| Chronic Granulomatous Disease |
|
Definition
| lack of NADPH Oxidase activity -> defective phagocytosis by Neutrophils -> Opportunistic infxns (S. aureus, E. coli, Aspergillus); diagnosis = Negative Nitroblue Tetrazolium test |
|
|
Term
|
Definition
| AR; defect in Microtubular function and Lysosomal emptying of phagocytic cells -> recurrent Staph and Strep infxns |
|
|
Term
|
Definition
| Failure of IFN-g production by CD4 T-cells -> failed Macrophage activation and Neutrophil chemotaxis -> "cold" (non-inflammed) Staph abscesses, Eczema, high levels of IgE |
|
|
Term
| Leukocyte Adhesion Deficiency Syndrome |
|
Definition
| deficiency of LFA-1 adhesion proteins on Phagocytes -> severe Pyogenic infections early in life |
|
|
Term
|
Definition
| defective CD40 Ligand on CD4 T-cells -> inability to class-switch -> severe Pyogenic infxns early in life; high levels of IgM, low levels of IgG, IgA, IgE |
|
|
Term
| IL-12 Receptor Deficiency |
|
Definition
| disseminated Mycobacterial infections |
|
|
