A synonymous splice site mutation in IL2RG gene causes late-onset combined immunodeficiency
Abstract X-Linked severe combined immunodeficiency (X-SCID) is a severe form of primary immunodeficiency characterized by absence of T cells and NK cells. X-SCID is caused by a loss-of-function mutation in the IL2RG gene that encodes common gamma chain (γc), which plays an essential role in lymphocy...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Yamashita, Motoi [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2019 |
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| Schlagwörter: |
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| Anmerkung: |
© Japanese Society of Hematology 2019 |
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| Übergeordnetes Werk: |
Enthalten in: International journal of hematology - Tokyo [u.a.] : Springer, 1995, 109(2019), 5 vom: 08. März, Seite 603-611 |
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| Übergeordnetes Werk: |
volume:109 ; year:2019 ; number:5 ; day:08 ; month:03 ; pages:603-611 |
| Links: |
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| DOI / URN: |
10.1007/s12185-019-02619-9 |
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| Katalog-ID: |
SPR025127527 |
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| 100 | 1 | |a Yamashita, Motoi |e verfasserin |0 (orcid)0000-0002-9814-1033 |4 aut | |
| 245 | 1 | 2 | |a A synonymous splice site mutation in IL2RG gene causes late-onset combined immunodeficiency |
| 264 | 1 | |c 2019 | |
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| 500 | |a © Japanese Society of Hematology 2019 | ||
| 520 | |a Abstract X-Linked severe combined immunodeficiency (X-SCID) is a severe form of primary immunodeficiency characterized by absence of T cells and NK cells. X-SCID is caused by a loss-of-function mutation in the IL2RG gene that encodes common gamma chain (γc), which plays an essential role in lymphocyte development. We report the first case of hypomorphic X-SCID caused by a synonymous mutation in the IL2RG gene leading to a splice anomaly, in a family including two patients with diffuse cutaneous warts, recurrent molluscum contagiosum, and mild respiratory infections. The mutation caused aberrant splicing of IL2RG mRNA, subsequently resulted in reduced γc expression. The leaky production of normally spliced IL2RG mRNA produced undamaged protein; thus, T cells and NK cells were generated in the patients. Functional assays of the patients’ T cells and NK cells revealed diminished cytokine response in the T cells and absent cytokine response in the NK cells. In addition, the TCR repertoire in these patients was limited. These data suggest that a fine balance between aberrant splicing and leaky production of normally spliced IL2RG mRNA resulted in late-onset combined immunodeficiency in these patients. | ||
| 650 | 4 | |a X-linked severe combined immunodeficiency |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Synonymous mutation |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Leaky |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Atypical |7 (dpeaa)DE-He213 | |
| 700 | 1 | |a Wakatsuki, Ryosuke |4 aut | |
| 700 | 1 | |a Kato, Tamaki |4 aut | |
| 700 | 1 | |a Okano, Tsubasa |4 aut | |
| 700 | 1 | |a Yamanishi, Shingo |4 aut | |
| 700 | 1 | |a Mayumi, Nobuko |4 aut | |
| 700 | 1 | |a Tanaka, Mayuri |4 aut | |
| 700 | 1 | |a Ogura, Yumi |4 aut | |
| 700 | 1 | |a Kanegane, Hirokazu |4 aut | |
| 700 | 1 | |a Nonoyama, Shigeaki |4 aut | |
| 700 | 1 | |a Imai, Kohsuke |4 aut | |
| 700 | 1 | |a Morio, Tomohiro |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t International journal of hematology |d Tokyo [u.a.] : Springer, 1995 |g 109(2019), 5 vom: 08. März, Seite 603-611 |w (DE-627)324615485 |w (DE-600)2028991-1 |x 1865-3774 |7 nnns |
| 773 | 1 | 8 | |g volume:109 |g year:2019 |g number:5 |g day:08 |g month:03 |g pages:603-611 |
| 856 | 4 | 0 | |u https://dx.doi.org/10.1007/s12185-019-02619-9 |z lizenzpflichtig |3 Volltext |
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| 912 | |a GBV_ILN_2057 | ||
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| 912 | |a GBV_ILN_2061 | ||
| 912 | |a GBV_ILN_2064 | ||
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10.1007/s12185-019-02619-9 doi (DE-627)SPR025127527 (SPR)s12185-019-02619-9-e DE-627 ger DE-627 rakwb eng Yamashita, Motoi verfasserin (orcid)0000-0002-9814-1033 aut A synonymous splice site mutation in IL2RG gene causes late-onset combined immunodeficiency 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Japanese Society of Hematology 2019 Abstract X-Linked severe combined immunodeficiency (X-SCID) is a severe form of primary immunodeficiency characterized by absence of T cells and NK cells. X-SCID is caused by a loss-of-function mutation in the IL2RG gene that encodes common gamma chain (γc), which plays an essential role in lymphocyte development. We report the first case of hypomorphic X-SCID caused by a synonymous mutation in the IL2RG gene leading to a splice anomaly, in a family including two patients with diffuse cutaneous warts, recurrent molluscum contagiosum, and mild respiratory infections. The mutation caused aberrant splicing of IL2RG mRNA, subsequently resulted in reduced γc expression. The leaky production of normally spliced IL2RG mRNA produced undamaged protein; thus, T cells and NK cells were generated in the patients. Functional assays of the patients’ T cells and NK cells revealed diminished cytokine response in the T cells and absent cytokine response in the NK cells. In addition, the TCR repertoire in these patients was limited. These data suggest that a fine balance between aberrant splicing and leaky production of normally spliced IL2RG mRNA resulted in late-onset combined immunodeficiency in these patients. X-linked severe combined immunodeficiency (dpeaa)DE-He213 Synonymous mutation (dpeaa)DE-He213 Leaky (dpeaa)DE-He213 Atypical (dpeaa)DE-He213 Wakatsuki, Ryosuke aut Kato, Tamaki aut Okano, Tsubasa aut Yamanishi, Shingo aut Mayumi, Nobuko aut Tanaka, Mayuri aut Ogura, Yumi aut Kanegane, Hirokazu aut Nonoyama, Shigeaki aut Imai, Kohsuke aut Morio, Tomohiro aut Enthalten in International journal of hematology Tokyo [u.a.] : Springer, 1995 109(2019), 5 vom: 08. März, Seite 603-611 (DE-627)324615485 (DE-600)2028991-1 1865-3774 nnns volume:109 year:2019 number:5 day:08 month:03 pages:603-611 https://dx.doi.org/10.1007/s12185-019-02619-9 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 AR 109 2019 5 08 03 603-611 |
| spelling |
10.1007/s12185-019-02619-9 doi (DE-627)SPR025127527 (SPR)s12185-019-02619-9-e DE-627 ger DE-627 rakwb eng Yamashita, Motoi verfasserin (orcid)0000-0002-9814-1033 aut A synonymous splice site mutation in IL2RG gene causes late-onset combined immunodeficiency 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Japanese Society of Hematology 2019 Abstract X-Linked severe combined immunodeficiency (X-SCID) is a severe form of primary immunodeficiency characterized by absence of T cells and NK cells. X-SCID is caused by a loss-of-function mutation in the IL2RG gene that encodes common gamma chain (γc), which plays an essential role in lymphocyte development. We report the first case of hypomorphic X-SCID caused by a synonymous mutation in the IL2RG gene leading to a splice anomaly, in a family including two patients with diffuse cutaneous warts, recurrent molluscum contagiosum, and mild respiratory infections. The mutation caused aberrant splicing of IL2RG mRNA, subsequently resulted in reduced γc expression. The leaky production of normally spliced IL2RG mRNA produced undamaged protein; thus, T cells and NK cells were generated in the patients. Functional assays of the patients’ T cells and NK cells revealed diminished cytokine response in the T cells and absent cytokine response in the NK cells. In addition, the TCR repertoire in these patients was limited. These data suggest that a fine balance between aberrant splicing and leaky production of normally spliced IL2RG mRNA resulted in late-onset combined immunodeficiency in these patients. X-linked severe combined immunodeficiency (dpeaa)DE-He213 Synonymous mutation (dpeaa)DE-He213 Leaky (dpeaa)DE-He213 Atypical (dpeaa)DE-He213 Wakatsuki, Ryosuke aut Kato, Tamaki aut Okano, Tsubasa aut Yamanishi, Shingo aut Mayumi, Nobuko aut Tanaka, Mayuri aut Ogura, Yumi aut Kanegane, Hirokazu aut Nonoyama, Shigeaki aut Imai, Kohsuke aut Morio, Tomohiro aut Enthalten in International journal of hematology Tokyo [u.a.] : Springer, 1995 109(2019), 5 vom: 08. März, Seite 603-611 (DE-627)324615485 (DE-600)2028991-1 1865-3774 nnns volume:109 year:2019 number:5 day:08 month:03 pages:603-611 https://dx.doi.org/10.1007/s12185-019-02619-9 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 AR 109 2019 5 08 03 603-611 |
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10.1007/s12185-019-02619-9 doi (DE-627)SPR025127527 (SPR)s12185-019-02619-9-e DE-627 ger DE-627 rakwb eng Yamashita, Motoi verfasserin (orcid)0000-0002-9814-1033 aut A synonymous splice site mutation in IL2RG gene causes late-onset combined immunodeficiency 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Japanese Society of Hematology 2019 Abstract X-Linked severe combined immunodeficiency (X-SCID) is a severe form of primary immunodeficiency characterized by absence of T cells and NK cells. X-SCID is caused by a loss-of-function mutation in the IL2RG gene that encodes common gamma chain (γc), which plays an essential role in lymphocyte development. We report the first case of hypomorphic X-SCID caused by a synonymous mutation in the IL2RG gene leading to a splice anomaly, in a family including two patients with diffuse cutaneous warts, recurrent molluscum contagiosum, and mild respiratory infections. The mutation caused aberrant splicing of IL2RG mRNA, subsequently resulted in reduced γc expression. The leaky production of normally spliced IL2RG mRNA produced undamaged protein; thus, T cells and NK cells were generated in the patients. Functional assays of the patients’ T cells and NK cells revealed diminished cytokine response in the T cells and absent cytokine response in the NK cells. In addition, the TCR repertoire in these patients was limited. These data suggest that a fine balance between aberrant splicing and leaky production of normally spliced IL2RG mRNA resulted in late-onset combined immunodeficiency in these patients. X-linked severe combined immunodeficiency (dpeaa)DE-He213 Synonymous mutation (dpeaa)DE-He213 Leaky (dpeaa)DE-He213 Atypical (dpeaa)DE-He213 Wakatsuki, Ryosuke aut Kato, Tamaki aut Okano, Tsubasa aut Yamanishi, Shingo aut Mayumi, Nobuko aut Tanaka, Mayuri aut Ogura, Yumi aut Kanegane, Hirokazu aut Nonoyama, Shigeaki aut Imai, Kohsuke aut Morio, Tomohiro aut Enthalten in International journal of hematology Tokyo [u.a.] : Springer, 1995 109(2019), 5 vom: 08. März, Seite 603-611 (DE-627)324615485 (DE-600)2028991-1 1865-3774 nnns volume:109 year:2019 number:5 day:08 month:03 pages:603-611 https://dx.doi.org/10.1007/s12185-019-02619-9 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 AR 109 2019 5 08 03 603-611 |
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10.1007/s12185-019-02619-9 doi (DE-627)SPR025127527 (SPR)s12185-019-02619-9-e DE-627 ger DE-627 rakwb eng Yamashita, Motoi verfasserin (orcid)0000-0002-9814-1033 aut A synonymous splice site mutation in IL2RG gene causes late-onset combined immunodeficiency 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Japanese Society of Hematology 2019 Abstract X-Linked severe combined immunodeficiency (X-SCID) is a severe form of primary immunodeficiency characterized by absence of T cells and NK cells. X-SCID is caused by a loss-of-function mutation in the IL2RG gene that encodes common gamma chain (γc), which plays an essential role in lymphocyte development. We report the first case of hypomorphic X-SCID caused by a synonymous mutation in the IL2RG gene leading to a splice anomaly, in a family including two patients with diffuse cutaneous warts, recurrent molluscum contagiosum, and mild respiratory infections. The mutation caused aberrant splicing of IL2RG mRNA, subsequently resulted in reduced γc expression. The leaky production of normally spliced IL2RG mRNA produced undamaged protein; thus, T cells and NK cells were generated in the patients. Functional assays of the patients’ T cells and NK cells revealed diminished cytokine response in the T cells and absent cytokine response in the NK cells. In addition, the TCR repertoire in these patients was limited. These data suggest that a fine balance between aberrant splicing and leaky production of normally spliced IL2RG mRNA resulted in late-onset combined immunodeficiency in these patients. X-linked severe combined immunodeficiency (dpeaa)DE-He213 Synonymous mutation (dpeaa)DE-He213 Leaky (dpeaa)DE-He213 Atypical (dpeaa)DE-He213 Wakatsuki, Ryosuke aut Kato, Tamaki aut Okano, Tsubasa aut Yamanishi, Shingo aut Mayumi, Nobuko aut Tanaka, Mayuri aut Ogura, Yumi aut Kanegane, Hirokazu aut Nonoyama, Shigeaki aut Imai, Kohsuke aut Morio, Tomohiro aut Enthalten in International journal of hematology Tokyo [u.a.] : Springer, 1995 109(2019), 5 vom: 08. März, Seite 603-611 (DE-627)324615485 (DE-600)2028991-1 1865-3774 nnns volume:109 year:2019 number:5 day:08 month:03 pages:603-611 https://dx.doi.org/10.1007/s12185-019-02619-9 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 AR 109 2019 5 08 03 603-611 |
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10.1007/s12185-019-02619-9 doi (DE-627)SPR025127527 (SPR)s12185-019-02619-9-e DE-627 ger DE-627 rakwb eng Yamashita, Motoi verfasserin (orcid)0000-0002-9814-1033 aut A synonymous splice site mutation in IL2RG gene causes late-onset combined immunodeficiency 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Japanese Society of Hematology 2019 Abstract X-Linked severe combined immunodeficiency (X-SCID) is a severe form of primary immunodeficiency characterized by absence of T cells and NK cells. X-SCID is caused by a loss-of-function mutation in the IL2RG gene that encodes common gamma chain (γc), which plays an essential role in lymphocyte development. We report the first case of hypomorphic X-SCID caused by a synonymous mutation in the IL2RG gene leading to a splice anomaly, in a family including two patients with diffuse cutaneous warts, recurrent molluscum contagiosum, and mild respiratory infections. The mutation caused aberrant splicing of IL2RG mRNA, subsequently resulted in reduced γc expression. The leaky production of normally spliced IL2RG mRNA produced undamaged protein; thus, T cells and NK cells were generated in the patients. Functional assays of the patients’ T cells and NK cells revealed diminished cytokine response in the T cells and absent cytokine response in the NK cells. In addition, the TCR repertoire in these patients was limited. These data suggest that a fine balance between aberrant splicing and leaky production of normally spliced IL2RG mRNA resulted in late-onset combined immunodeficiency in these patients. X-linked severe combined immunodeficiency (dpeaa)DE-He213 Synonymous mutation (dpeaa)DE-He213 Leaky (dpeaa)DE-He213 Atypical (dpeaa)DE-He213 Wakatsuki, Ryosuke aut Kato, Tamaki aut Okano, Tsubasa aut Yamanishi, Shingo aut Mayumi, Nobuko aut Tanaka, Mayuri aut Ogura, Yumi aut Kanegane, Hirokazu aut Nonoyama, Shigeaki aut Imai, Kohsuke aut Morio, Tomohiro aut Enthalten in International journal of hematology Tokyo [u.a.] : Springer, 1995 109(2019), 5 vom: 08. März, Seite 603-611 (DE-627)324615485 (DE-600)2028991-1 1865-3774 nnns volume:109 year:2019 number:5 day:08 month:03 pages:603-611 https://dx.doi.org/10.1007/s12185-019-02619-9 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 AR 109 2019 5 08 03 603-611 |
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Yamashita, Motoi @@aut@@ Wakatsuki, Ryosuke @@aut@@ Kato, Tamaki @@aut@@ Okano, Tsubasa @@aut@@ Yamanishi, Shingo @@aut@@ Mayumi, Nobuko @@aut@@ Tanaka, Mayuri @@aut@@ Ogura, Yumi @@aut@@ Kanegane, Hirokazu @@aut@@ Nonoyama, Shigeaki @@aut@@ Imai, Kohsuke @@aut@@ Morio, Tomohiro @@aut@@ |
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<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01000caa a22002652 4500</leader><controlfield tag="001">SPR025127527</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20230519221447.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">201007s2019 xx |||||o 00| ||eng c</controlfield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.1007/s12185-019-02619-9</subfield><subfield code="2">doi</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)SPR025127527</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(SPR)s12185-019-02619-9-e</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-627</subfield><subfield code="b">ger</subfield><subfield code="c">DE-627</subfield><subfield code="e">rakwb</subfield></datafield><datafield tag="041" ind1=" " ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="100" ind1="1" ind2=" "><subfield code="a">Yamashita, Motoi</subfield><subfield code="e">verfasserin</subfield><subfield code="0">(orcid)0000-0002-9814-1033</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="2"><subfield code="a">A synonymous splice site mutation in IL2RG gene causes late-onset combined immunodeficiency</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">2019</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">Text</subfield><subfield code="b">txt</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">Computermedien</subfield><subfield code="b">c</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">Online-Ressource</subfield><subfield code="b">cr</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="500" ind1=" " ind2=" "><subfield code="a">© Japanese Society of Hematology 2019</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">Abstract X-Linked severe combined immunodeficiency (X-SCID) is a severe form of primary immunodeficiency characterized by absence of T cells and NK cells. X-SCID is caused by a loss-of-function mutation in the IL2RG gene that encodes common gamma chain (γc), which plays an essential role in lymphocyte development. We report the first case of hypomorphic X-SCID caused by a synonymous mutation in the IL2RG gene leading to a splice anomaly, in a family including two patients with diffuse cutaneous warts, recurrent molluscum contagiosum, and mild respiratory infections. The mutation caused aberrant splicing of IL2RG mRNA, subsequently resulted in reduced γc expression. The leaky production of normally spliced IL2RG mRNA produced undamaged protein; thus, T cells and NK cells were generated in the patients. Functional assays of the patients’ T cells and NK cells revealed diminished cytokine response in the T cells and absent cytokine response in the NK cells. In addition, the TCR repertoire in these patients was limited. 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Yamashita, Motoi |
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Yamashita, Motoi misc X-linked severe combined immunodeficiency misc Synonymous mutation misc Leaky misc Atypical A synonymous splice site mutation in IL2RG gene causes late-onset combined immunodeficiency |
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A synonymous splice site mutation in IL2RG gene causes late-onset combined immunodeficiency X-linked severe combined immunodeficiency (dpeaa)DE-He213 Synonymous mutation (dpeaa)DE-He213 Leaky (dpeaa)DE-He213 Atypical (dpeaa)DE-He213 |
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misc X-linked severe combined immunodeficiency misc Synonymous mutation misc Leaky misc Atypical |
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misc X-linked severe combined immunodeficiency misc Synonymous mutation misc Leaky misc Atypical |
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A synonymous splice site mutation in IL2RG gene causes late-onset combined immunodeficiency |
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A synonymous splice site mutation in IL2RG gene causes late-onset combined immunodeficiency |
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Yamashita, Motoi |
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International journal of hematology |
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Yamashita, Motoi Wakatsuki, Ryosuke Kato, Tamaki Okano, Tsubasa Yamanishi, Shingo Mayumi, Nobuko Tanaka, Mayuri Ogura, Yumi Kanegane, Hirokazu Nonoyama, Shigeaki Imai, Kohsuke Morio, Tomohiro |
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synonymous splice site mutation in il2rg gene causes late-onset combined immunodeficiency |
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A synonymous splice site mutation in IL2RG gene causes late-onset combined immunodeficiency |
| abstract |
Abstract X-Linked severe combined immunodeficiency (X-SCID) is a severe form of primary immunodeficiency characterized by absence of T cells and NK cells. X-SCID is caused by a loss-of-function mutation in the IL2RG gene that encodes common gamma chain (γc), which plays an essential role in lymphocyte development. We report the first case of hypomorphic X-SCID caused by a synonymous mutation in the IL2RG gene leading to a splice anomaly, in a family including two patients with diffuse cutaneous warts, recurrent molluscum contagiosum, and mild respiratory infections. The mutation caused aberrant splicing of IL2RG mRNA, subsequently resulted in reduced γc expression. The leaky production of normally spliced IL2RG mRNA produced undamaged protein; thus, T cells and NK cells were generated in the patients. Functional assays of the patients’ T cells and NK cells revealed diminished cytokine response in the T cells and absent cytokine response in the NK cells. In addition, the TCR repertoire in these patients was limited. These data suggest that a fine balance between aberrant splicing and leaky production of normally spliced IL2RG mRNA resulted in late-onset combined immunodeficiency in these patients. © Japanese Society of Hematology 2019 |
| abstractGer |
Abstract X-Linked severe combined immunodeficiency (X-SCID) is a severe form of primary immunodeficiency characterized by absence of T cells and NK cells. X-SCID is caused by a loss-of-function mutation in the IL2RG gene that encodes common gamma chain (γc), which plays an essential role in lymphocyte development. We report the first case of hypomorphic X-SCID caused by a synonymous mutation in the IL2RG gene leading to a splice anomaly, in a family including two patients with diffuse cutaneous warts, recurrent molluscum contagiosum, and mild respiratory infections. The mutation caused aberrant splicing of IL2RG mRNA, subsequently resulted in reduced γc expression. The leaky production of normally spliced IL2RG mRNA produced undamaged protein; thus, T cells and NK cells were generated in the patients. Functional assays of the patients’ T cells and NK cells revealed diminished cytokine response in the T cells and absent cytokine response in the NK cells. In addition, the TCR repertoire in these patients was limited. These data suggest that a fine balance between aberrant splicing and leaky production of normally spliced IL2RG mRNA resulted in late-onset combined immunodeficiency in these patients. © Japanese Society of Hematology 2019 |
| abstract_unstemmed |
Abstract X-Linked severe combined immunodeficiency (X-SCID) is a severe form of primary immunodeficiency characterized by absence of T cells and NK cells. X-SCID is caused by a loss-of-function mutation in the IL2RG gene that encodes common gamma chain (γc), which plays an essential role in lymphocyte development. We report the first case of hypomorphic X-SCID caused by a synonymous mutation in the IL2RG gene leading to a splice anomaly, in a family including two patients with diffuse cutaneous warts, recurrent molluscum contagiosum, and mild respiratory infections. The mutation caused aberrant splicing of IL2RG mRNA, subsequently resulted in reduced γc expression. The leaky production of normally spliced IL2RG mRNA produced undamaged protein; thus, T cells and NK cells were generated in the patients. Functional assays of the patients’ T cells and NK cells revealed diminished cytokine response in the T cells and absent cytokine response in the NK cells. In addition, the TCR repertoire in these patients was limited. These data suggest that a fine balance between aberrant splicing and leaky production of normally spliced IL2RG mRNA resulted in late-onset combined immunodeficiency in these patients. © Japanese Society of Hematology 2019 |
| collection_details |
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| container_issue |
5 |
| title_short |
A synonymous splice site mutation in IL2RG gene causes late-onset combined immunodeficiency |
| url |
https://dx.doi.org/10.1007/s12185-019-02619-9 |
| remote_bool |
true |
| author2 |
Wakatsuki, Ryosuke Kato, Tamaki Okano, Tsubasa Yamanishi, Shingo Mayumi, Nobuko Tanaka, Mayuri Ogura, Yumi Kanegane, Hirokazu Nonoyama, Shigeaki Imai, Kohsuke Morio, Tomohiro |
| author2Str |
Wakatsuki, Ryosuke Kato, Tamaki Okano, Tsubasa Yamanishi, Shingo Mayumi, Nobuko Tanaka, Mayuri Ogura, Yumi Kanegane, Hirokazu Nonoyama, Shigeaki Imai, Kohsuke Morio, Tomohiro |
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| doi_str |
10.1007/s12185-019-02619-9 |
| up_date |
2024-07-03T14:02:33.011Z |
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1803566818800959488 |
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| score |
7.402815 |