IL-7 receptor deficient SCID with a unique intronic mutation and post-transplant autoimmunity due to chronic GVHD
Severe combined immunodeficiency (SCID) may result from a variety of genetic defects that impair the development of T cells. Signaling mediated by the cytokine interleukin-7 is essential for the differentiation of T cells from lymphoid progenitors, and mutations of either the interleukin-7 receptor...
| Publié dans: | Clinical immunology (Orlando, Fla.). - 1999. - 125(2007), 2 vom: 08. Nov., Seite 159-64 |
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| Auteur principal: | |
| Autres auteurs: | , , |
| Format: | Article |
| Langue: | English |
| Publié: |
2007
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| Accès à la collection: | Clinical immunology (Orlando, Fla.) |
| Sujets: | Case Reports Journal Article Research Support, N.I.H., Extramural Research Support, N.I.H., Intramural Research Support, Non-U.S. Gov't Receptors, Interleukin-7 interleukin-7 receptor, alpha chain |
| Résumé: | Severe combined immunodeficiency (SCID) may result from a variety of genetic defects that impair the development of T cells. Signaling mediated by the cytokine interleukin-7 is essential for the differentiation of T cells from lymphoid progenitors, and mutations of either the interleukin-7 receptor alpha chain (IL-7Ralpha) or its associated cytokine receptor chain, the common gamma chain (gammac), result in SCID. Here we report a case of SCID due to heterozygous mutations of the IL7R gene encoding IL-7Ralpha. A previously unrecognized mutation found within intron 3 created a new exon between exons 3 and 4 in the mRNA transcribed from this allele, producing a truncated, unstable mRNA. This mutation illustrates the necessity of evaluating both coding and non-coding regions of genes when searching for pathogenic mutations. Following hematopoietic stem cell transplantation of our patient, immune reconstitution was accompanied by two unusual complications, immune-mediated myositis and myasthenia gravis |
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| Description: | Date Completed 18.12.2007 Date Revised 13.11.2018 published: Print-Electronic Citation Status MEDLINE |
| ISSN: | 1521-7035 |