Novel approach to the evaluation of primary immunodeficiencies

Clemens Esche, Bernard A Cohen

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Primary immunodeficiency diseases usually manifest early in infancy and childhood, but some manifest later in life. The skin and the gastrointestinal (GI) and sinopulmonary tracts are major sites of involvement, since they interface with the environment. These diseases are a result of heritable genetic defects that are usually recessive conditions, and frequently located on the X chromosome, hence a male predominance. Clinical manifestations are recurrent and severe deep infections in the skin or GI or sinopulmonary tract that require intravenous antibiotics, as well as infections with opportunistic organisms (for example, Giardia lamblia). The major causes of the primary immunodeficiency diseases include B-lymphocyte disorders, T-lymphocyte disorders, combined B- and T-cell disorders, as well as unconventional disorders such as interleukin-1 receptor-associated kinase 4 (IRAK-4) deficiency and warts, hypogammaglobulinemia, immunodeficiency, and myelokathexis (WHIM) syndrome (CXCR4 deficiency). Early diagnosis is critical to effectively manage these conditions in the afflicted patients and to identify disease gene carriers for genetic counseling.

Original languageEnglish (US)
Title of host publicationClinical and Basic Immunodermatology
PublisherSpringer London
Pages617-631
Number of pages15
ISBN (Print)9781848001640
DOIs
StatePublished - 2008

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Interleukin-1 Receptor-Associated Kinases
T-Lymphocytes
Agammaglobulinemia
Giardia lamblia
Skin
Warts
Opportunistic Infections
Genetic Counseling
X Chromosome
Gastrointestinal Tract
Early Diagnosis
B-Lymphocytes
Anti-Bacterial Agents
Infection
Genes

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Esche, C., & Cohen, B. A. (2008). Novel approach to the evaluation of primary immunodeficiencies. In Clinical and Basic Immunodermatology (pp. 617-631). Springer London. https://doi.org/10.1007/978-1-84800-165-7_35

Novel approach to the evaluation of primary immunodeficiencies. / Esche, Clemens; Cohen, Bernard A.

Clinical and Basic Immunodermatology. Springer London, 2008. p. 617-631.

Research output: Chapter in Book/Report/Conference proceedingChapter

Esche, C & Cohen, BA 2008, Novel approach to the evaluation of primary immunodeficiencies. in Clinical and Basic Immunodermatology. Springer London, pp. 617-631. https://doi.org/10.1007/978-1-84800-165-7_35
Esche C, Cohen BA. Novel approach to the evaluation of primary immunodeficiencies. In Clinical and Basic Immunodermatology. Springer London. 2008. p. 617-631 https://doi.org/10.1007/978-1-84800-165-7_35
Esche, Clemens ; Cohen, Bernard A. / Novel approach to the evaluation of primary immunodeficiencies. Clinical and Basic Immunodermatology. Springer London, 2008. pp. 617-631
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