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Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency.

Publication ,  Journal Article
Puck, JM; Pepper, AE; Henthorn, PS; Candotti, F; Isakov, J; Whitwam, T; Conley, ME; Fischer, RE; Rosenblatt, HM; Small, TN; Buckley, RH
Published in: Blood
March 15, 1997

Severe combined immunodeficiency (SCID) is a syndrome of profoundly impaired cellular and humoral immunity. In humans, SCID is most commonly caused by mutations in the X-linked gene IL2RG, which encodes the common gamma chain, gamma c, of the leukocyte receptors for interleukin-2 and multiple other cytokines. To investigate the frequency and variety of IL2RG mutations that cause SCID, we analyzed DNA, RNA, and B-cell lines from a total of 103 unrelated SCID-affected males and their relatives using a combination of molecular and immunologic techniques. Sixty-two different mutations spanning all eight IL2RG exons were found in 87 cases, making possible correlations between mutation type and functional consequences. Although skewed maternal X chromosome inactivation, single-strand conformation polymorphism, mRNA expression, and cell surface staining with anti-gamma c antibodies were all helpful in establishing IL2RG defects as the cause of SCID, only dideoxy fingerprinting and DNA sequence determination each detected 100% of the IL2RG mutations in our series. Abnormal gamma c chains may be expressed in the lymphocytes of as many as two thirds of patients with X-linked SCID. Specific mutation diagnosis thus remains technically challenging, but it is important for genetic counseling and perhaps for helping to select appropriate subjects for retroviral gene therapy trials, This is a US government work. There are no restrictions on its use.

Duke Scholars

Published In

Blood

ISSN

0006-4971

Publication Date

March 15, 1997

Volume

89

Issue

6

Start / End Page

1968 / 1977

Location

United States

Related Subject Headings

  • X Chromosome
  • Severe Combined Immunodeficiency
  • Sensitivity and Specificity
  • Receptors, Interleukin-2
  • Receptors, Cytokine
  • RNA, Messenger
  • RNA Splicing
  • Protein Binding
  • Polymorphism, Single-Stranded Conformational
  • Point Mutation
 

Citation

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ICMJE
MLA
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Puck, J. M., Pepper, A. E., Henthorn, P. S., Candotti, F., Isakov, J., Whitwam, T., … Buckley, R. H. (1997). Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency. Blood, 89(6), 1968–1977.
Puck, J. M., A. E. Pepper, P. S. Henthorn, F. Candotti, J. Isakov, T. Whitwam, M. E. Conley, et al. “Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency.Blood 89, no. 6 (March 15, 1997): 1968–77.
Puck JM, Pepper AE, Henthorn PS, Candotti F, Isakov J, Whitwam T, et al. Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency. Blood. 1997 Mar 15;89(6):1968–77.
Puck, J. M., et al. “Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency.Blood, vol. 89, no. 6, Mar. 1997, pp. 1968–77.
Puck JM, Pepper AE, Henthorn PS, Candotti F, Isakov J, Whitwam T, Conley ME, Fischer RE, Rosenblatt HM, Small TN, Buckley RH. Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency. Blood. 1997 Mar 15;89(6):1968–1977.

Published In

Blood

ISSN

0006-4971

Publication Date

March 15, 1997

Volume

89

Issue

6

Start / End Page

1968 / 1977

Location

United States

Related Subject Headings

  • X Chromosome
  • Severe Combined Immunodeficiency
  • Sensitivity and Specificity
  • Receptors, Interleukin-2
  • Receptors, Cytokine
  • RNA, Messenger
  • RNA Splicing
  • Protein Binding
  • Polymorphism, Single-Stranded Conformational
  • Point Mutation