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18 Cards in this Set
- Front
- Back
- 3rd side (hint)
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Reticular Dysgenesis
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LOD: hematopoetic Stem Cells
Defic/Dysfxn: T cells, B cells, Phagocytes |
- autosommal recessive
- defic; T-cells, B-cells, phagocytes |
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Severe Combined Immunodeficiency Disorder (SCID)
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LOD: various; (-)ADA, (-)CD132, (-) JAK3
Defic/Dysfxn: Lymphocyte production |
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DiGeorge's Syndrome
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LOD: Thymus
Defic/Dysfxn: T cells (ALL) |
- Congenital Thymic Hypoplasia
- cong. abnml in paryngeal pouches 3 & 4 - condition improves w/Age |
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X-Linked (Bruton's) Agammaglobulinemia (or Hypoglobulinemmia)
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LOD: marked decr. in ALL Ab-isotypes (pre B cells)
Defic/Dysfxn: ?? |
- lack of circulating B-cells
- intact cellular immunity - manifest 5-6 mos - recurrent bacterial infxns |
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Chronic Mucocutaneous Candidiasis
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LOD:
Defic/Dysfxn: "hole in repertoire for Candida Albicans" |
- nml T-cell resp to oth. Ag's
- nml B-cell immunity to Candida Albicans |
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Chediak Higashi Synd.
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LOD: fusion of cytoplasmic granule (Phago+Lysosome), NO "LYST" gene
Defic/Dysfxn: Phagocytes, CTL, NK cells |
- Short term Rx= Anti- fungal, anti-bacterial
- Long-term Rx = BMT |
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Chronic Granulomatous Dz (CGD)
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LOD: NADPH oxidase
Defic/Dysfxn: Phagocytic destruction (via ROI's) |
- Short term Rx= Anti- fungal, anti-bacterial
- Long-term Rx = BMT |
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Paroxysmal Nocturnal Hemoglobinuria (PNH)
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LOD: Phosphatidylinositol (GPI) linkage formation
Defic/Dysfxn: (-) DAF on RBC -RBC's lysed by uncontrolled Complement |
- results in spon. susceptibility of RBC lysis
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Hereditary Angio(neurotic)Edema
(HANE or HAE) |
LOD: C1 (esterase) INHibtor
Defic/Dysfxn: uncontrolled activation of C1 |
- _______ also down regulates Kallikrien
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Leukocyte Adhesion Def
(LAD) |
LOD: CD18, B2 integrin
Defic/Dysfxn: Adhesion/Margination defect |
- defective "margination"
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Recurrent Neisseria infxns
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LOD: C5-C9
Defic/Dysfxn: MAC complex formation |
no effective MAC complex
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Waldenstron's Macroglobulinemia
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LOD: IgM gammopathy
(plasma cell neoplasm) Defic/Dysfxn: def. in other Ig's (~hyperviscosity syndr.) |
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Multiple Myeloma
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LOD: Plasma cell (~plasma cell neoplasm)
Defic/Dysfxn: ??? |
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Transient Hypogammaglobulinemia
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LOD: lack of Th cells help (cytokine)
Defic/Dysfxn: IgG, IgE, IgA |
- manifest 5-6 mos
- nml # B-cells - NOT X-linked |
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Common Variable Hypogammaglobulinemia
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LOD: immat B-cells (or lack Ag-induced differentiation)
Defic/Dysfxn: ALL Ig's |
- may occur at ANY age
- Males > Females |
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Selective IgA defic.
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LOD: unknwn
Defic/Dysfxn: IgA |
- most common in WHITEYS
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Hyper IgM Syndrome
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LOD: isotype switching
Defic/Dysfxn: (-) CD40/CD40L(152) interxn |
- HIGH IgM, LOW all others
- X-linked - IgM may be auto-Ab's |
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Recurrent Bacterial Infxns
Chronic Nephritis |
LOD: C3 deficient
Defic/Dysfxn: failure of Classic & Alt. Compl. PTHWY |
Failure of all Complement pathway
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