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MUA M2B2 IDR 06
Immunodeficiencies
Term | Definition |
---|---|
1. person with an immunodeficiency disorder will have | frequent infections that are generally more severe and last longer than usual |
2. primary immunodeficiency | genetic or developmental |
3. secondary immunodeficiency | acquired |
4. consequences of HIV infection | decreased CD4positive cell function, altered T cell function, polyclonal B cell activation, and altered macrophage function |
5. immunodeficiency mechanisms | dysregulation, dna repair defects, low Ig, combined |
6. Stem cell defect in pro-B cell differentiation | Adenosine deaminase (ADA), Purine nucleoside phosphorylase (PNP) |
7. Stem cell defect in pro-T cell differentiation | Janus Kinase 3 (JAK3), (ADA), (PNP) |
8. Pre-Bcell differentiation defect | RAG1 RAG2 Artemis, BTK |
9. Pre Tcell differentiation defect | RAG 1 RAG2 Artemis, CD45, CD3 |
10. CD8 Tcell differentiation issue | ZAP70, TAP 1,2 |
11. CD4 Tcell differentiation issue | MHCII |
12. ADA SCID deficiency | ADA on chromosome 20 defect, reduced DNA synthesis NK, B and T cell problem, undeveloped thymus, rib abnormalities, low WBC, No T-cell response to nonspecific T-cell mitogen phytohemagglutinin, Failure to thrive, bone marrow transplant |
13. PNP SCID deficiency | NP on chromosome 14 defect, poor B cell activation of T cells, No T cells, B cells not functional, no thymus, Failure to thrive, neuro problems, hemolytic anemia, bone marrow transplant |
14. RAG1,2 SCID | RAG1,2 on chromosome 11 defect, no T or B cell, sequence gene to diagnose, no thymus, Failure to thrive, bone marrow transplant |
15. Omenn syndrome | missense mutations in RAG1 of RAG2, T-cell (target self), High IgE, exfoliative dermatitis, Failure to thrive, High IL4 IL5, high eosinophils |
16. Gamma chain X linked SCID | IL2RG - γ chain of cytokine receptor for IL-2, IL-4, IL-7, IL-9, IL-15 on X chromosome, No Tcells, no thymus, no Ig, no NK, normal B, Failure to Thrive |
17. ATM SCID | No |
18. Wiskott Aldrich Syndrome | WAS on X chromosome, involved in T cell signaling, Low B, T and NK, High IgA IgE, Low IgM, increased staphA infections and eczema, petechial rashes, bloody diarrhea |
19. Leukocyte adhesion deficiency | CD18 defective coreceptor for leukocyte phagocytosis, no puss, neutrophilia, delayed detachment of the umbilical cord |
20. Chediak-Higashi Syndrome | LYST gene defect, Infections, Neuropathy, Albinism, malfunctioning WBC with a diminished phagocytic capability, Defective phagocytosis in neutrophils, macrophages, dendritic cells, large granules in phagocytes |
21. Chronic Granulomatous Disease | Caused by multiple potential mutations in NADPH oxidase. NBT test negative, recurrent catalase positive infections, granuloma, colitis, recurrent fungal infections |
22. DiGeorge Syndrome | chromosome 22 (22q11) containing the T-box 1 (TBX1) gene deletion, embryonic thymic and parathyroid aplasia, No Tcells, Low Ig, cardiac abnormality |
23. MHC II difficiency | CIITA (MHCII transactivator) on chromosome 16 or RFX (Regulatory factor X1) on chromosome 1 defect. double positive T-cells cannot undergo positive MHCII selection, Low Ig, CD8 cells normal, no CD4, graft vs host disease |
24. MHC I deficiency | TAP1,2 gene, B2microglobulin gene defect, CD4 cells normal, no CD8 cells, Normal Ig, Chronic viral infections, skin lesions |
25. Selective IgA deficiency | no heavy chain class switching, low IgA, Sinopulmonary infections and UTIs, B cell defect |
26. X linkes Agammaglobulinemia | BTK defect, No CD19, no B cell, no Ig |
27. Hyper IgM syndrome | CD40L deficiency, NEMO deficiency, AID deficiency for class switching, T cell defective cant stimulate B cell class switch, high IgM |
28. NEMO Deficiency (X-linked hypohidrotic ectodermal dysplasia) | defect on IKBKG gene, cant activate NK-kB pathway, high IgA or IgM other Ig low, have thickened skin, conical teeth, absence of sweat glands, and thin, sparse hair |
29. Activation-induced Cytidine Deaminase (AID) Deficiency | class switching gene, only IgM |
30. Common Variable Immune Deficiency (CVID) | normal B cells, no plasma cells inability to produce antibodies in response to polysaccharide vaccines |
31. C1, C2, C2 deficiency | SLE and pyogenic infections |
32. C3 deficiency | severe pyogenic infections, SLE, glomulnephritis |
33. Late complement deficiency | sepsis, meningitis, disseminated gonococcal infections |
34. C1 esterase inhibitor deficiency | recurrent angioedema |
35. DAF, CD55, CD59 deficiency | nocturnal hemoglobulinemia |
36. PIGA gene | provides instructions for making a protein called phosphatidylinositol glycan class A, mutation causes Paroxysmal nocturnal hemoglobinuria (PNH) |