Module 8: Immune Deficiency Disorders Flashcards
5 categories of primary immune deficiencies
Cellular immune deficiencies Humoral immune deficiencies Combined immune deficiencies Phagocytic deficiencies Complement deficiencies
Lab tests for cellular immune deficiency
Peripheral lymphocyte count
T cell count and CD4:CD8 ratio
Delayed hypersensitivity skin testing (decreased or absent reaction)
Measurement of lymphokine production (decreased)
Lymph node biopsy (decreased size)
Lab tests for humoral immune deficiency
Immunoglobulin quantification and typing
Isohemagglutinin titers (Anti-A and Anti-B)
Antibody titers before and after immunization
B cell count (flow cyto)
Bone marrow and lymph node biopsies (absent or reduced follicles and germinal centres)
Peripheral lymphocyte count tests for which type of immune deficiency?
Cellular immune deficiency
T cell count and CD4:CD8 ratio tests for which type of immune deficiency?
Cellular immune deficiency
Delayed hypersensitivity skin testing tests for which type of immune deficiency? What would the reaction be if deficient?
Cellular immune deficiency
Decreased or absent reaction
Measurement of lymphokine production tests for which type of immune deficiency? What would the results show if deficient?
Decreased
Lymph node biopsy tests for which type of immune deficiency? What would the results show if deficient?
Cellular - decreased size
Humoral - absent or reduced follicles or germinal centres
Immunoglobulin quantification and typing tests for which type of immune deficiency?
Humoral immune deficiency
Isohemagglutinin titers (Anti-A and Anti-B) tests for which type of immune deficiency?
Humoral immune deficiency
Antibody titers before and after immunization tests for which type of immune deficiency?
Humoral immune deficiency
Bone marrow and lymph node biopsies tests for which type of immune deficiency? What would it show if deficient?
Humoral immune deficiency
Absent or reduced follicles or germinal centres
What is Thymic Hypoplasia (DiGeorge Anomaly)? What type of immune deficiency?
Cellular immune deficiency
Abnormal thymus and parathyroid development
Hypocalcemia due to lack of PTH
What are the lab findings in Thymic Hypoplasia (DiGeorge Anomaly)?
Decreased T cells
Lymphopenia
Ig levels normal or decreased
Patients requite CMV negative irradiated blood
CMV negative irradiated blood is required by patients with what disorder?
Thymic Hypoplasia (DiGeorge Anomaly)
What is Nezelof’s syndrome? What type of immune deficiency?
Cellular immune deficiency
Small thymus with abnormal morphology
Secondary lymphoid tissues also reduced in size
Parathyroid is normal
What are the lab findings in Nezelof’s syndrome?
Decreased in total T cells
What is X-linked agammaglobulinemia (Bruton’s)? What type of immune deficiency?
Humoral immune deficiency
Defect in B cell maturation due to missing enzyme (Bruton’s tyrosine kinase - Btk)
What are the lab findings in X-linked agammaglobulinemia (Bruton’s)?
Circulating mature B cells are rare
IgG, IgA and IgM are decreased or absent
No antibody response to mitogen (antigen stimulation)
What is selective IgA deficiency? What type of immune deficiency?
Humoral immune deficiency
Near or complete absence of serum and secretory IgA
May develop Anti-IgA if exposed to blood products - serious allergic/anaplylactic reactions
What is Transient Hypogammaglobinemia of Infancy? What type of immune deficiency?
Humoral immune deficiency
Prolongation of the decline in maternal immunoglobulin
What is severe combined immune deficiency (SCID)? What type of immune deficiency?
Combined cellular and humoral immunodeficiency
Failure of lymphoid stem cell development
Mutation in gene for several cytokine receptors
Mutation in adenosine deaminase enzyme
What are the lab findings in severe combined immune deficiency (SCID)?
Decreased mature T cell percentage
Both T and B cells nonfunctional
Deficient NK cells
Ig levels very low
What is Wiskott-Aldrich syndrome? What type of immune deficiency?
Inability to respond to polysaccaride antigens
What are the lab findings in Wiskott-Aldrich syndrome?
Decreased number and function of T cells
Decreased B cells
Thrombocytopenia
What is the therapy and treatment for Wiskott-Aldrich syndrome?
Therapy - platelet transfusions, gammaglobulin administration
Treatment - splenectomy, HSC transplant
What is Ataxia Telangiectasia? What type of immune deficiency?
Combined cellular and humoral immunodeficiency
Defect in DNA repair
T cell deficiency
Disordered immunoglobulin synthesis
What are the lab findings for Ataxia Telangiectasia?
Decreased TH cells
Decreased immunoglobulin
What is Leukocyte Adhesion Defect (LAD)? What type of immune deficiency?
Phagocytic deficiency
Cannot adhere to endothelial cells
Cord stub does not heal properly
What is chronic granulomatous disease? What type of immune deficiency?
Phagocytic deficiency
Impairment of the phagocytes ability to produce oxygen radicals and hydrogen
What is the effect of C1qrs complement deficiency?
Lupus-like disease
What is the effect of C4 complement deficiency?
Increased bacterial or viral infections as well as Lupus-like disease (due to inability to clear immune complexes)
What is the effect of C2 complement deficiency?
Increased bacterial or viral infections as well as Lupus-like disease
What is the effect of C3 complement deficiency?
Overwhelming infections
What is the effect of C567 complement deficiency?
Neisseria infections
What is the effect of C1 INH complement deficiency?
Hereditary angioneurotic edema
What is the effect of H and I complement deficiency?
Recurrent bacterial infections
