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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
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)
Created by: splashgreen