The recognition of impaired immunity in children five decadesago1,2 spurred an exponential increase in knowledge of the functionsof the immune system. More than 95 inherited immunodeficiencydisorders have now been identified.3,4 Genetically determinedimmunodeficiency can cause not only undue susceptibility toinfection but also autoimmunity and an increased risk of cancer.The defects may affect one or more components of the immunesystem, including T cells, B cells, natural killer cells, phagocyticcells, and complement proteins. This review will focus on molecularcauses of primary immunodeficiency that affect lymphocytes.
Genetic Defects Causing Cellular or Combined Immunodeficiencies
Defects of Genes of the Cd3 Complex
Deficiencies of Cytokine Receptor Chains
X-Linked Severe Combined Immunodeficiency
Lymphoproliferative T-Cell Deficiency
T-Cell–Negative, B-Cell–Positive, Natural-Killer-Cell–Positive Autosomal Recessive Severe Combined Immunodeficiency
Deficiencies of Signaling Molecules
T-Cell–Positive, B-Cell–Positive, Natural-Killer-Cell–Positive Autosomal Recessive Severe Combined Immunodeficiency
CD8 Lymphopenia
T-Cell–Negative, B-Cell–Positive, Natural-Killer-Cell–Negative Autosomal Recessive Severe Combined Immunodeficiency
T-Cell–Negative, B-Cell–Negative, Natural-Killer-Cell–Positive Autosomal Recessive Severe Combined Immunodeficiency and Omenn's Syndrome
Mutation of Common Leukocyte Surface Protein (Cd45)
Metabolic Defect
Deficiencies of Major-Histocompatibility-Complex Class I and II Molecules
Deficiencies of Transcription Factors
Deficiencies of Transporter Proteins
Immunodeficiency Diseases with Unique Phenotypes
X-Linked Lymphoproliferative Disease
Wiskott–Aldrich Syndrome
Ataxia Telangiectasia
Diseases Associated with Unidentified Molecular Defects
Source Information
From the Departments of Pediatrics and Immunology, Duke University School of Medicine, Durham, N.C.
Address reprint requests to Dr. Buckley at Box 2818, Duke University School of Medicine, Durham, NC 27710, or at buckl003@mc.duke.edu.
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