ISSN 2398-2969      

Immunology: combined immunodeficiency

icanis

Synonym(s): X-linked severe CID, SCID, XSCID


Introduction

  • Most severe of primary immunodeficiency diseases.
  • Cause: RARE lethal X-linked recessive trait documented in research colony of Basset Hound puppies and Cardigan Welsh corgis.
  • Signs: susceptibility to overwhelming bacterial and viral infections.
  • Onset at approximately 8-16 weeks of age.
  • Sometimes it can be later - depends upon when the maternal antibodies decline.
  • Stunted growth.
  • Diagnosis: characterized by both T and B cell deficiencies.
  • Decreased lymphocyte counts, especially loss of T cells.
  • In affected colony, males affected/females carriers.
  • Treatment: no effective treatment.
  • Prognosis: usually die by 6 months of age.

Pathogenesis

Etiology

  • X-linked severe combined immunodeficiency disease (XSCID) in both humans and dogs results from mutations in the common gamma-chain, gamma c, which is a common component of the receptors for IL-2, IL-4, IL-7, IL-9 and IL-15.

Pathophysiology

  • Normal numbers of circulating B cells; low to normal numbers of circulating T cells.
  • Defect in differentiation and maturation of IgG and IgA B cells into immunoglobulin secreting plasma cells. Do respond to stimulating mitogens.
  • Defects in T cell function, (severely depressed blastogenic responses - inability to support B cell function, eg cells unresponsive to IL-2).

Timecourse

  • Manifests within a few weeks of life.
  • Death usually within a few months.

Diagnosis

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Treatment

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Prevention

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Outcomes

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Further Reading

Publications

Refereed papers

  • Recent references from PubMed and VetMedResource.
  • Verfuurden B, Wempe F, Reinink P, van Kooten P J, Martens E, Gerritsen R, Vos J H, Rutten V P, Leegwater P A (2011) Severe combined immunodeficiency in Frisian Water Dogs caused by a RAG1 mutation. Genes Immun 12 (4), 310-313 PubMed.
  • Felsburg P J et al (1999) Canine X-linked severe combined immunodeficiency. Vet Immunol Immunopathol 69 (2-4), 127-35 PubMed.
  • Hartnett B J et al (1999) Bone marrow transplantation for canine X-linked severe combined immunodeficiency. Vet Immunol Immunopathol 69 (2-4), 137-44 PubMed.
  • Felsburg P J, Somberg R L, Hartnett B J, Suter S F, Henthorn P S & Moore P F (1997) Full immunologic reconstitution following nonconditioned bone marrow transplantation for canine X-linked severe combined immunodeficiency. Blood 90 (8), 3214-3221 PubMed.
  • Pullen R P, Somberg R L, Felsburg P J & Henthorn P S (1997) X-linked severe combined immunodeficiency in a family of Cardigan Welsh corgis. JAAHA 33 (6), 494-499 PubMed.
  • Somberg R L, Pullen R P, Casal M L, Patterson D F, Felsburg P J & Henthorn P S (1995) A single chain nucleotide insertion in the canine interleukin-2 receptor gamma chain results in X-linked severe combined immunodeficiency disease. Vet Immunol Immunopathol 47 (3-4), 203-213 PubMed.

Other sources of information

  • Felsberg P J (1992) Primary immunodeficiencies. In:Current Veterinary Therapy XI - Small Animal Practice.Eds: Kirk R W & Bonagura J D. Philadelphia: W B Saunders. pp 448-453.

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