Term
| Immunodeficiency with defective tyrosine kinase gene |
|
Definition
| Brutons Agammaglobulinemia; The B's (X-linked, B cell defic., recurrent Bacterial infections) |
|
|
Term
| Enzyme deficiency in SCID |
|
Definition
|
|
Term
|
Definition
| Severe recurrent infections, Chronic Diarrhea, and Failure to thrive |
|
|
Term
| The X-linked immunodeficiences |
|
Definition
| WBC: Wiskott-Aldrich, Bruton's, and CGD, and sometimes Hyper-IgM syndrome |
|
|
Term
|
Definition
| WAITER: Immunodeficiency, Thrombycytopenia & Purpura, Eczema and Recurrent pyogenic infections. No IgM towards bacterial polysaccharides |
|
|
Term
| IgA deficiency, Telangiectasias on the face and increased Alpha feto-protein? |
|
Definition
| Ataxia-Telangiectasia; do not X-Ray these patients; no DNA repair |
|
|
Term
| Il-12 receptor deficiency presentation |
|
Definition
|
|
Term
| Chronic Mucocutaneous Candidiasis disease fact |
|
Definition
T-cell dysfunction against C. albicans
Rx: Ketoconazole |
|
|
Term
| The 4 Phagocyte deficiencies |
|
Definition
1. CGD
2. Chediak Higashi
3. Jobs
4. Leukocyte adhesion def. syndrome |
|
|
Term
|
Definition
|
|
Term
| Dx via Negative nitroblue tetrazolium dye |
|
Definition
Chronic Granulomatous Disease - X-linked
Prophylaxis with TMP-SMX |
|
|
Term
| Triad of: Partial albinism, recurrent respiratory tract and skin infections and neurologic disorders (seizure and peripheral neuropathy) |
|
Definition
|
|
Term
|
Definition
Lysosomal transport gene;
leads to defective phagocyte lysosome thus giant cytoplasmic granules in PMNs form and are diagnostic for chediak higashi |
|
|
Term
| Deficient INF gamma --> PMNs fail to respond to chemotactic stimuli |
|
Definition
|
|
Term
| Triad of: Eczema, recurrent cold S. aureus abscesses and coarse facial features |
|
Definition
| Jobs syndrome; Hyperimmunoglobulin E syndrome |
|
|
Term
| Leukocyte adhesion deficiency syndrome |
|
Definition
| abnormal integrins lead to inability of phagocytes to exit circulation; delayed separation of umbilicus |
|
|
