Congenital Immunodeficiencies

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Congenital Immunodeficiencies
2011-05-30 17:38:15
Congenital Immunodeficiencies

Congenital Immunodeficiencies
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  1. This syndrome is characterized by a STAT3 mutation, low IFNgamma production, hyper IgE, and poor B/T memory
    Job Syndrome
  2. This syndrome is a caused by a defect in lysosomal trafficking, and causes albinism
    Chediak-Higashi Syndrome
  3. This disease is caused by a mutation in genes that affect neutrophil longevity and function
    Severe Congenital Neutropenia
  4. This disease is characterized by a defect in at least two Ig classes. The cause is unknown, but 10% is attributable to ICOS defects
    Common Variable Immunodeficiency (CIV)
  5. This type of deficiencies is caused by absent or reduced follicles and germinal centers in lymphoid organs. Reduced serum Ig levels are seen. The common infectious consequences are pyogenic bacterial infections.
    B-cell Deficiencies
  6. In this type of deficiency, there may be reduced T cell zones in lymphoid organs. There are reduced DTH reactions to common antigens, and defective T cell proliferative responses to mitogens in vivo. The common infectious consequences of these include viral and other intracellular microbial infections (e.g., Pneumocystitis jiroveci, atypical mycobacteria, fungi), and virus-associated malignancies (e.g., EBV-associated lymphomas)
    T-cell Deficiencies
  7. This type of immunodeficiency is variable, depending on which component of innate immunity is defective. The common infectious consequences are variable as well, but often include pyogenic bacterial infections.
    Innate Immune Deficiencies
  8. What deficiency is mostly asymptomatic, and accounts for most immunodeficiency?
    Selective IgA Deficiency
  9. What molecule makes nucleotides susceptible to cleavage and is therefore important for Ab class switch recombination?
    ADA (Adenosine Deaminase)
  10. What molecule is important for B cell antigen receptor signaling during B cell selection and development?
    Btk (Bruton's Tyrosine Kinase)
  11. What molecule is important for clearing toxic purine metabolites?
    PNP (Purine Nucleoside Phosphorylase)
  12. What molecule is important for rearranging antigen receptor genes?
    RAG (Recombination-Activating Gene)
  13. What molecule is a common cytokine receptor chain, and is important for signaling stimulated by several cytokines?
    Gamma c
  14. This type of SCID is characterized by the following functional deficiencies: markedly decreased T-cells; normal or increased B-cells; reduced serum Ig. The mechanism of the defect is cytokine receptor common gamma chain gene mutations, and defective T cell maturation due to lack of IL-7 signals.
    X-linked SCID
  15. This type of SCID is characterized by the following functional deficiencies: a progressive decrease in B and T cells (mostly T); reduced serum Ig in ADA deficiency; normal B cells and serum Ig in PNP deficiency. The mechanism of the defect is wherein an ADA or PNP deficiency leads to accumulation of toxic metabolites in lymphocytes.
    Autosomal Recessive SCID, due to ADA, PNP Deficiency
  16. This type of SCID is characterized by the following functional deficiencies: decreased T and B cells; reduced serum Ig. The mechanism of the defect is defective maturation of T and B cells; the genetic basis in unknown in most cases, but there may be mutations in RAG genes.
    Autosomal Recessive SCID due to other causes
  17. This disease is characterized by a decrease in all serum Ig isotypes and reduced B cell numbers. There is a block in maturation beyond pre-B cells, because of a mutation in B cell tyrosine kinase
    X-linked Agammaglobulinemia
  18. In this B cell immunodeficiency, IgG1, IgG2, or IgG4 is absent; this is sometimes associated with absent IgA or IgE. There is a chromosomal deletion at 14q32 (Ig heavy chain locus).
    Ig Heavy Chain Deletions
  19. In this T cell immunodeficiency, ther is a decrease in T cells, normal B cells, and normal or decreased serum Ig. There is an anomalous development of the 3rd and 4th branchial pouches leading to thymic hypoplasia
    DiGeorge Syndrome
  20. What is used for the treatment and management of SCID?
    • Antibiotics
    • Anti-fungal agents
    • Anti-viral drugs
    • IVIg
    • Bone Marrow/Stem Cell Transplant
  21. What are the treatment and management methods for Bruton's X-linked Agammaglobulinemia?
    • IVIg
    • Chronic prophylactic Antibiotics (in some centers)
    • Live-attenuated polio vaccine to be avoided
  22. This disease is characterized by defects in helper T cell-dependent B cell and macrophage activation. There are mutations in the CD40 ligand.
    X-linked Hyper-IgM Syndrome
  23. This disease is due to reduced or no production of selective isotypes or subtypes of immunoglobulins. There is a susceptibility to bacterial infections or no clinical problems. There are mutations in the receptor for B cell growth factors and costimulators
    Common Variable Immunodeficiency
  24. This disease is due to a lack of class II MHC expression or impaired CD4 T cell activation, or to a defective cell-mediated immunity and T cell-dependent humoral immunity. There are mutations in genes encoding transcription factors required for class II MHC gene expression.
    Defective Class II MHC Expression: the Bare Lymphocyte Syndrome
  25. This disease is due to decreased T cells or abnormal ratios of CD4 and CD8 subsets, there is decreased cell-mediated immunity. Rare cases are due to mutations or deletions in genes encoding CD3 proteins, or ZAP-70
    Defects in T cell receptor complex expression or signaling
  26. This syndrome is caused by a mutation in the WAS protein (WASP) which is involved in the reorganization of the actin cytoskeleton in white blood cells and megakaryocytes. The consequences are inefficient B cell and T cell interactions, affecting adaptive immunity and blood clotting, respectively
    Wiskott-Aldrich Syndrome
  27. What is the only known curative treatment for Wiskott-Aldrich Syndrome?
    Allogenic Bone Marrow Transplantation (BMT)
  28. What is the appropriate treatment for X-linked hyper IgM syndrome?
    Allogenic Hematopoietic Cell Transplantation, ideally performed prior to onset of life-threatening complications and organ damage
  29. What are the management and treatment recommendations for Ataxia-Telangiectasia?
    • IVIg therapy for recurrent infection and low IgG levels
    • Aggressive pulmonary hygiene for chronic bronchiectasis
    • Supportive therapy for ataxia
    • Immune monitoring
    • Cancer monitoring
  30. In this disease there is a defective production of reactive oxygen species by phagocytes. There are mutations in genes encoding components of the phagocyte oxidase enzyme, most often cytochrome b558. This often involves staphylococcal and Candida infections
    Chronic Granulomatous Disease
  31. This disease involves absent or deficient expression of beta2 integrins causing defective leukocyte adhesion-dependent functions. There are mutations in the gene encoding the beta chain (CD18) of beta2 integrins
    Leukocyte Adhesion Deficiency-1
  32. This disease involves an absent or deficient expression of leukocyte ligands for endothelial E- and P-selectins, causing failure of leukocyte migration into tissues. There are mutations in the genes encoding a protein required for synthesis of the sialyl-Lewis X component of E- and P-selectin ligands
    Leukocyte Adhesion Deficiency-2
  33. This disease involves a defect in the complement cascade activation. There are mutations in the C3 gene
    Complement C3 Deficiency
  34. This disease involves a deficient activation of the classical pathway of complement leading to a failure to clear immune complexes and development of lupus-like disease. There are mutations in C2 or C4 genes
    Complement C2, C4 Deficiency
  35. In this disease, there is defective lysosomal function in neutrophils, macrophages, and dendritic cells, and defective granule function in natural killer cells. There is a mutation in a gene encoding a lysosomal trafficking regulatory protein.
    Chediak-Higashi Syndrome
  36. What is the only cure for chronic granulomatous disease?
    Bone Marrow Transplant
  37. This disease is characterized by a deficiency in CI INH (but can also be a defect in factor XII). There are episodes of edema. This can be induced by stress, trauma, surgery, and dental procedures. It leads to an overproduction of vasoactive substances. It is treated with plasma or CI INH concentrate and/or androgen
    Hereditary Angioneurotic Edema
  38. This disease is characterized by a defect in the expression of MCP, DAF (CD55) and CD59, which results in an inability to form GPI linkages. The complement activation is unchecked, so there is an inability to deactivate MAC on the surface of the cell. Intravascular lysis of erythrocytes results -- they are abnormally sensitive to complement-mediated lysis due to C3 "tickover." How is this treated?
    • Paroxysmal Nocturnal Hemoglobinuria
    • Eculizumab