Medical Genetics 1 General Immunodeficiencies may be primary or secondary Primary immunodeficiency is classified into four main groups depending on which component of the immune system is deficient: B cells, T cells phagocytic cells, or complement
Medical Genetics 1. General Immunodeficiencies may be primary or secondary. Primary immunodeficiency is classified into four main groups depending on which component of the immune system is deficient: B cells, T cells, phagocytic cells, or complement
Medical Genetics Over 70 primary immunodeficiencies have been described, and considerable heterogeneity may exist within each disorder
Medical Genetics Over 70 primary immunodeficiencies have been described, and considerable heterogeneity may exist within each disorder
Medical Genetics CLASSIFICATION, INHERITANCE, AND ASSOCIATED FEATURES OF THE PRIMARY IMMUNODEFICTENCY DISORDERS Disorder Associated Findings B-cell (antibody) deficiencies X-linked agammaglobulinemia Pyogenic infection after age 6 mo Ig deficiency with hyper-IgM (XL) Neutropenia, lymphadenopathy lgA deficiency Autoimmunity, respiratory or food allergy, respiratory infection; often asymptomatic Igg subclass deficiencies lgA deficiency Antibody deficiency with normal or elevated Igs Immunodeficiency with thymoma Aplastic anemia Common variable immunodeficiency Autoimmunity Transient hypogammaglobulinemia of infancy Prematurity T-cell(cellular) deficiencies Predominant T-cell deficiency DiGeorge anomaly Hypocalcemia, peculiar facies, aortic arch abnormalities heart disease Chronic mucocutaneous candidiasis Endocrinopathies Combined immunodeficiency with igs Bronchiectasis (Nezelof syndrome Nucleoside phosphorylase deficiency(AR)
Medical Genetics CLASSIFICATION, INHERITANCE, AND ASSOCIATED FEATURES OF THE PRIMARY IMMUNODEFICIENCY DISORDERS
Medical Genetics Natural killer cell deficiency Severe herpes viral infection Idiopathic CD4 lymphocytopenia Often asymptomatic Combined t- and B-cell deficiencies Severe combined immunodeficiency (AR or XL) Adenosine deaminase deficiency (AR Skeletal abnormalities Reticular dysgenesis Pancytopenia Bare lymphocyte syndrome Absence of HLa Ataxia-telangiectasia (AR) Dermatitis, neurologic deterioration Wiskott-Aldrich syndrome (XL) Eczema, thrombocytopenia Short-limbed dwarfism Cartilage-hair hypoplasia, severe varicella XL lymphoproliferative syndrome Severe Epstein- Barr virus infection Phagocytic disorders Defects of cell movement Hyperimmunoglobulinemia E syndrome Staphylococcal infections, eczema, der. mattis Leukocyte adhesion defect type 1 (AR) Prolonged attachment of umbilical cord. leukocytosis, periodontitis Defects of microbicidal activity Chronic granulomatous disease (XL or AR) Lymphadenopathy Neutrophil G6PD deficiency Myeloperoxidase deficiency (AR) Chediak-Higashi syndrome(AR) Oculocutaneous albinism, giant granules of neutrophils
Medical Genetics
Medical Genetics Complement disorders Defects of complement components Clq deficiency Combined immunodeficiency: SLE-like syndrome Clrs CIs ,,,+,,,,+ C4 SLE-like syndrome, glomerulonephritis C2 C3 (ACD) Pyogenic infections C7 Neisserial infections C8 C9 +=,++++ None proven Defects of control proteins Cl inhibitor deficiency (AD) Angioedema, SLE Factor I( C3b inactivator)deficiency(ACD) Pyogenic infections Factor H deficiency (ACD) Hemolytic-uremic syndrome, glomerulo nephritis Factor D deficiency (ACD Pyogenic infections Properdin deficiency (XL) Neisserial infections XL= X-linked: Ig= immunoglobulin; AR- autosomal recessive: ACD= autosomal codominant: AD autosomal dominant
Medical Genetics