Titre
Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency
Type
article
Institution
Externe
Périodique
Auteur(s)
Puck, J. M.
Auteure/Auteur
Pepper, A. E.
Auteure/Auteur
Henthorn, P. S.
Auteure/Auteur
Candotti, F.
Auteure/Auteur
Isakov, J.
Auteure/Auteur
Whitwam, T.
Auteure/Auteur
Conley, M. E.
Auteure/Auteur
Fischer, R. E.
Auteure/Auteur
Rosenblatt, H. M.
Auteure/Auteur
Small, T. N.
Auteure/Auteur
Buckley, R. H.
Auteure/Auteur
Liens vers les personnes
ISSN
0006-4971
Statut éditorial
Publié
Date de publication
1997
Volume
89
Numéro
6
Première page
1968
Dernière page/numéro d’article
77
Langue
anglais
Notes
Puck, J M
Pepper, A E
Henthorn, P S
Candotti, F
Isakov, J
Whitwam, T
Conley, M E
Fischer, R E
Rosenblatt, H M
Small, T N
Buckley, R H
eng
1U19-AI38550/AI/NIAID NIH HHS/
5R37-AI18613/AI/NIAID NIH HHS/
HD23679/HD/NICHD NIH HHS/
etc.
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.
Blood. 1997 Mar 15;89(6):1968-77.
Pepper, A E
Henthorn, P S
Candotti, F
Isakov, J
Whitwam, T
Conley, M E
Fischer, R E
Rosenblatt, H M
Small, T N
Buckley, R H
eng
1U19-AI38550/AI/NIAID NIH HHS/
5R37-AI18613/AI/NIAID NIH HHS/
HD23679/HD/NICHD NIH HHS/
etc.
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.
Blood. 1997 Mar 15;89(6):1968-77.
Résumé
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.
Sujets
PID Serval
serval:BIB_11F10D33E630
PMID
Date de création
2017-11-01T09:29:30.688Z
Date de création dans IRIS
2025-05-20T15:20:31Z