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Pulmonary complications of primary immunodeficiencies.

Publication ,  Journal Article
Buckley, RH
Published in: Paediatr Respir Rev
2004

In the fifty years since Ogden Bruton discovered agammaglobulinemia, more than 100 additional immunodeficiency syndromes have been described. These disorders may involve one or more components of the immune system, including T, B, and NK lymphocytes; phagocytic cells; and complement proteins. Most are recessive traits, some of which are caused by mutations in genes on the X chromosome, others in genes on autosomal chromosomes. Until the past decade, there was little insight into the fundamental problems underlying a majority of these conditions. Many of the primary immunodeficiency diseases have now been mapped to specific chromosomal locations, and the fundamental biologic errors have been identified in more than 3 dozen. Within the past decade the molecular bases of 7 X-linked immunodeficiency disorders have been reported: X-linked immunodeficiency with Hyper IgM, X-linked lymphoproliferative disease, X-linked agammaglobulinemia, X-linked severe combined immunodeficiency, the Wiskott-Aldrich syndrome, nuclear factor kappaB essential modulator (NEMO or IKKg), and the immune dysregulation polyendocrinopathy (IPEX) syndrome. The abnormal genes in X-linked chronic granulomatous disease (CGD) and properdin deficiency had been identified several years earlier. In addition, there are now many autosomal recessive immunodeficiencies for which the molecular bases have been discovered. These new advances will be reviewed, with particular emphasis on the pulmonary complications of some of these diseases. In some cases there are unique features of lung abnormalities in specific defects. Infections obviously account for most of these complications, but the host reaction to infection often leads to characteristic findings that can be helpful diagnostically. Finally, advances in treatment of the underlying diseases as well as their infectious complications will be covered.

Duke Scholars

Published In

Paediatr Respir Rev

DOI

ISSN

1526-0542

Publication Date

2004

Volume

5 Suppl A

Start / End Page

S225 / S233

Location

England

Related Subject Headings

  • Wiskott-Aldrich Syndrome
  • Severe Combined Immunodeficiency
  • Respiratory System
  • Phagocytes
  • Lung Diseases
  • Job Syndrome
  • Immunologic Deficiency Syndromes
  • Immunity, Cellular
  • Humans
  • Granulomatous Disease, Chronic
 

Citation

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Chicago
ICMJE
MLA
NLM
Buckley, R. H. (2004). Pulmonary complications of primary immunodeficiencies. Paediatr Respir Rev, 5 Suppl A, S225–S233. https://doi.org/10.1016/s1526-0542(04)90043-7
Buckley, Rebecca H. “Pulmonary complications of primary immunodeficiencies.Paediatr Respir Rev 5 Suppl A (2004): S225–33. https://doi.org/10.1016/s1526-0542(04)90043-7.
Buckley RH. Pulmonary complications of primary immunodeficiencies. Paediatr Respir Rev. 2004;5 Suppl A:S225–33.
Buckley, Rebecca H. “Pulmonary complications of primary immunodeficiencies.Paediatr Respir Rev, vol. 5 Suppl A, 2004, pp. S225–33. Pubmed, doi:10.1016/s1526-0542(04)90043-7.
Buckley RH. Pulmonary complications of primary immunodeficiencies. Paediatr Respir Rev. 2004;5 Suppl A:S225–S233.
Journal cover image

Published In

Paediatr Respir Rev

DOI

ISSN

1526-0542

Publication Date

2004

Volume

5 Suppl A

Start / End Page

S225 / S233

Location

England

Related Subject Headings

  • Wiskott-Aldrich Syndrome
  • Severe Combined Immunodeficiency
  • Respiratory System
  • Phagocytes
  • Lung Diseases
  • Job Syndrome
  • Immunologic Deficiency Syndromes
  • Immunity, Cellular
  • Humans
  • Granulomatous Disease, Chronic