Naturally occurring primary deficiencies of the immune system.

No abstract is available for this paper.

• Publication year

  1997

• Venue

  Annual Review of Immunology

• Publication date

  Unknown publication date

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1146/ANNUREV.IMMUNOL.15.1.93PMID 9143683
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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  1996influential reference
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  1995influential reference
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