Term
| Categories of immunodeficiency |
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Definition
| Humoral, cellular, combined |
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Term
| X-linked agammaglobulinema (XLA) |
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Definition
| B-cell/BTK deficiency. All Ig classes affected, B-cells arrested at pre-B stage. T cells not affected. |
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Term
| AR X-linked agammaglobulinema (XLA) |
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Definition
| Deficiency of delta 5 preventing formation of a pre-B cell receptor |
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Term
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Definition
| Lack of isotype switch and no germinal centers. Presents as opportunistic infection of RT. Can be caused by deficiency of AID or CD40L on T-cells. Other defects include selective IgA, selective IgG subclass, and k-chain deficiency |
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Term
| X-linked severe combined immunodeficiency (X-SCID) |
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Definition
| No T cells and B cells are present but poorly activated. Caused by a missing common y chain of IL-2, -4, -7, -9, and -15 |
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Term
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Definition
| Evidenced early in life by easily-occurring viral, parasitic protozoa, mycobacteria, fungal, and intracellular bacterial infection. Can be caused by deficiency of CD3, CD8, IL-1R |
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Term
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Definition
| Congenital thymic hypoplasia causes a lack of thymocytes (No T, low B) |
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Term
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Definition
| An autosomal SCID caused by lack of MHC molecules. No class I: no TAP gene, no CD8T. No class II: no CD4T. |
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Term
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Definition
| SCID with no lymphocytes at all |
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Term
| Wiskott-Aldrich Syndrome (WAS) |
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Definition
| X-linked deficiency of WASP gene affects cytoskeleton due to poor actin organization. Defect in platelets, DCs, and macrophages. Diminished T cells, poor B cell response to polysaccharide antigens and encapsulated bacteria |
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Term
| Treatment of humoral defects |
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Definition
| Intravenous immunoglobulin or bone marrow transplantation |
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Term
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Definition
| BMT, possible gene therapy. Donor must share 2+ MHC-subtypes |
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