Mutations in Recombination Activating Gene 1 and 2 in patients with severe combined immunodeficiency disorders in Egypt
The Recombination Activating Genes (RAG) 1/2 are important for the development and function of T and B cells. Loss of RAG1/2 function results in severe combined immunodeficiency (SCID), which could lead to early death. We studied the prevalence of RAG1/2 mutations in ten SCID patients in Egypt. We i...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Meshaal, Safa [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2015transfer abstract |
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| Umfang: |
7 |
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| Übergeordnetes Werk: |
Enthalten in: Comorbid episodes of primary bruxism and bruxism as an epileptic activity-related motor event - Bušková, Jitka ELSEVIER, 2019, San Diego, Calif |
|---|---|
| Übergeordnetes Werk: |
volume:158 ; year:2015 ; number:2 ; pages:167-173 ; extent:7 |
| Links: |
|---|
| DOI / URN: |
10.1016/j.clim.2015.04.003 |
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| 520 | |a The Recombination Activating Genes (RAG) 1/2 are important for the development and function of T and B cells. Loss of RAG1/2 function results in severe combined immunodeficiency (SCID), which could lead to early death. We studied the prevalence of RAG1/2 mutations in ten SCID patients in Egypt. We identified two novel homozygous nonsense mutations in RAG1, a novel homozygous deletion, and a previously reported homozygous missense mutation from four patients, as well as two homozygous mutations in RAG2 from the same patient. Prenatal diagnosis performed in the mother of a patient with RAG1 deficiency determined that the fetus was heterozygous for the same mutation. This represents the first report on RAG1/2 mutations in SCID patients in Egypt. The early diagnosis dramatically affects the outcome of the disease by allowing bone marrow transplantation at an early age, and providing prenatal diagnosis and genetic counseling for families with a history of SCID. | ||
| 520 | |a The Recombination Activating Genes (RAG) 1/2 are important for the development and function of T and B cells. Loss of RAG1/2 function results in severe combined immunodeficiency (SCID), which could lead to early death. We studied the prevalence of RAG1/2 mutations in ten SCID patients in Egypt. We identified two novel homozygous nonsense mutations in RAG1, a novel homozygous deletion, and a previously reported homozygous missense mutation from four patients, as well as two homozygous mutations in RAG2 from the same patient. Prenatal diagnosis performed in the mother of a patient with RAG1 deficiency determined that the fetus was heterozygous for the same mutation. This represents the first report on RAG1/2 mutations in SCID patients in Egypt. The early diagnosis dramatically affects the outcome of the disease by allowing bone marrow transplantation at an early age, and providing prenatal diagnosis and genetic counseling for families with a history of SCID. | ||
| 700 | 1 | |a El Hawary, Rabab |4 oth | |
| 700 | 1 | |a Elsharkawy, Marwa |4 oth | |
| 700 | 1 | |a Mousa, Reem K. |4 oth | |
| 700 | 1 | |a Farid, Reem J. |4 oth | |
| 700 | 1 | |a Abd Elaziz, Dalia |4 oth | |
| 700 | 1 | |a Alkady, Radwa |4 oth | |
| 700 | 1 | |a Galal, Nermeen |4 oth | |
| 700 | 1 | |a Massaad, Michel J. |4 oth | |
| 700 | 1 | |a Boutros, Jeannette |4 oth | |
| 700 | 1 | |a Elmarsafy, Aisha |4 oth | |
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10.1016/j.clim.2015.04.003 doi GBVA2015005000025.pica (DE-627)ELV028763491 (ELSEVIER)S1521-6616(15)00133-3 DE-627 ger DE-627 rakwb eng 610 610 DE-600 610 VZ 44.90 bkl Meshaal, Safa verfasserin aut Mutations in Recombination Activating Gene 1 and 2 in patients with severe combined immunodeficiency disorders in Egypt 2015transfer abstract 7 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier The Recombination Activating Genes (RAG) 1/2 are important for the development and function of T and B cells. Loss of RAG1/2 function results in severe combined immunodeficiency (SCID), which could lead to early death. We studied the prevalence of RAG1/2 mutations in ten SCID patients in Egypt. We identified two novel homozygous nonsense mutations in RAG1, a novel homozygous deletion, and a previously reported homozygous missense mutation from four patients, as well as two homozygous mutations in RAG2 from the same patient. Prenatal diagnosis performed in the mother of a patient with RAG1 deficiency determined that the fetus was heterozygous for the same mutation. This represents the first report on RAG1/2 mutations in SCID patients in Egypt. The early diagnosis dramatically affects the outcome of the disease by allowing bone marrow transplantation at an early age, and providing prenatal diagnosis and genetic counseling for families with a history of SCID. The Recombination Activating Genes (RAG) 1/2 are important for the development and function of T and B cells. Loss of RAG1/2 function results in severe combined immunodeficiency (SCID), which could lead to early death. We studied the prevalence of RAG1/2 mutations in ten SCID patients in Egypt. We identified two novel homozygous nonsense mutations in RAG1, a novel homozygous deletion, and a previously reported homozygous missense mutation from four patients, as well as two homozygous mutations in RAG2 from the same patient. Prenatal diagnosis performed in the mother of a patient with RAG1 deficiency determined that the fetus was heterozygous for the same mutation. This represents the first report on RAG1/2 mutations in SCID patients in Egypt. The early diagnosis dramatically affects the outcome of the disease by allowing bone marrow transplantation at an early age, and providing prenatal diagnosis and genetic counseling for families with a history of SCID. El Hawary, Rabab oth Elsharkawy, Marwa oth Mousa, Reem K. oth Farid, Reem J. oth Abd Elaziz, Dalia oth Alkady, Radwa oth Galal, Nermeen oth Massaad, Michel J. oth Boutros, Jeannette oth Elmarsafy, Aisha oth Enthalten in Elsevier Bušková, Jitka ELSEVIER Comorbid episodes of primary bruxism and bruxism as an epileptic activity-related motor event 2019 San Diego, Calif (DE-627)ELV003196453 volume:158 year:2015 number:2 pages:167-173 extent:7 https://doi.org/10.1016/j.clim.2015.04.003 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 44.90 Neurologie VZ AR 158 2015 2 167-173 7 045F 610 |
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10.1016/j.clim.2015.04.003 doi GBVA2015005000025.pica (DE-627)ELV028763491 (ELSEVIER)S1521-6616(15)00133-3 DE-627 ger DE-627 rakwb eng 610 610 DE-600 610 VZ 44.90 bkl Meshaal, Safa verfasserin aut Mutations in Recombination Activating Gene 1 and 2 in patients with severe combined immunodeficiency disorders in Egypt 2015transfer abstract 7 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier The Recombination Activating Genes (RAG) 1/2 are important for the development and function of T and B cells. Loss of RAG1/2 function results in severe combined immunodeficiency (SCID), which could lead to early death. We studied the prevalence of RAG1/2 mutations in ten SCID patients in Egypt. We identified two novel homozygous nonsense mutations in RAG1, a novel homozygous deletion, and a previously reported homozygous missense mutation from four patients, as well as two homozygous mutations in RAG2 from the same patient. Prenatal diagnosis performed in the mother of a patient with RAG1 deficiency determined that the fetus was heterozygous for the same mutation. This represents the first report on RAG1/2 mutations in SCID patients in Egypt. The early diagnosis dramatically affects the outcome of the disease by allowing bone marrow transplantation at an early age, and providing prenatal diagnosis and genetic counseling for families with a history of SCID. The Recombination Activating Genes (RAG) 1/2 are important for the development and function of T and B cells. Loss of RAG1/2 function results in severe combined immunodeficiency (SCID), which could lead to early death. We studied the prevalence of RAG1/2 mutations in ten SCID patients in Egypt. We identified two novel homozygous nonsense mutations in RAG1, a novel homozygous deletion, and a previously reported homozygous missense mutation from four patients, as well as two homozygous mutations in RAG2 from the same patient. Prenatal diagnosis performed in the mother of a patient with RAG1 deficiency determined that the fetus was heterozygous for the same mutation. This represents the first report on RAG1/2 mutations in SCID patients in Egypt. The early diagnosis dramatically affects the outcome of the disease by allowing bone marrow transplantation at an early age, and providing prenatal diagnosis and genetic counseling for families with a history of SCID. El Hawary, Rabab oth Elsharkawy, Marwa oth Mousa, Reem K. oth Farid, Reem J. oth Abd Elaziz, Dalia oth Alkady, Radwa oth Galal, Nermeen oth Massaad, Michel J. oth Boutros, Jeannette oth Elmarsafy, Aisha oth Enthalten in Elsevier Bušková, Jitka ELSEVIER Comorbid episodes of primary bruxism and bruxism as an epileptic activity-related motor event 2019 San Diego, Calif (DE-627)ELV003196453 volume:158 year:2015 number:2 pages:167-173 extent:7 https://doi.org/10.1016/j.clim.2015.04.003 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 44.90 Neurologie VZ AR 158 2015 2 167-173 7 045F 610 |
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10.1016/j.clim.2015.04.003 doi GBVA2015005000025.pica (DE-627)ELV028763491 (ELSEVIER)S1521-6616(15)00133-3 DE-627 ger DE-627 rakwb eng 610 610 DE-600 610 VZ 44.90 bkl Meshaal, Safa verfasserin aut Mutations in Recombination Activating Gene 1 and 2 in patients with severe combined immunodeficiency disorders in Egypt 2015transfer abstract 7 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier The Recombination Activating Genes (RAG) 1/2 are important for the development and function of T and B cells. Loss of RAG1/2 function results in severe combined immunodeficiency (SCID), which could lead to early death. We studied the prevalence of RAG1/2 mutations in ten SCID patients in Egypt. We identified two novel homozygous nonsense mutations in RAG1, a novel homozygous deletion, and a previously reported homozygous missense mutation from four patients, as well as two homozygous mutations in RAG2 from the same patient. Prenatal diagnosis performed in the mother of a patient with RAG1 deficiency determined that the fetus was heterozygous for the same mutation. This represents the first report on RAG1/2 mutations in SCID patients in Egypt. The early diagnosis dramatically affects the outcome of the disease by allowing bone marrow transplantation at an early age, and providing prenatal diagnosis and genetic counseling for families with a history of SCID. The Recombination Activating Genes (RAG) 1/2 are important for the development and function of T and B cells. Loss of RAG1/2 function results in severe combined immunodeficiency (SCID), which could lead to early death. We studied the prevalence of RAG1/2 mutations in ten SCID patients in Egypt. We identified two novel homozygous nonsense mutations in RAG1, a novel homozygous deletion, and a previously reported homozygous missense mutation from four patients, as well as two homozygous mutations in RAG2 from the same patient. Prenatal diagnosis performed in the mother of a patient with RAG1 deficiency determined that the fetus was heterozygous for the same mutation. This represents the first report on RAG1/2 mutations in SCID patients in Egypt. The early diagnosis dramatically affects the outcome of the disease by allowing bone marrow transplantation at an early age, and providing prenatal diagnosis and genetic counseling for families with a history of SCID. El Hawary, Rabab oth Elsharkawy, Marwa oth Mousa, Reem K. oth Farid, Reem J. oth Abd Elaziz, Dalia oth Alkady, Radwa oth Galal, Nermeen oth Massaad, Michel J. oth Boutros, Jeannette oth Elmarsafy, Aisha oth Enthalten in Elsevier Bušková, Jitka ELSEVIER Comorbid episodes of primary bruxism and bruxism as an epileptic activity-related motor event 2019 San Diego, Calif (DE-627)ELV003196453 volume:158 year:2015 number:2 pages:167-173 extent:7 https://doi.org/10.1016/j.clim.2015.04.003 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 44.90 Neurologie VZ AR 158 2015 2 167-173 7 045F 610 |
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10.1016/j.clim.2015.04.003 doi GBVA2015005000025.pica (DE-627)ELV028763491 (ELSEVIER)S1521-6616(15)00133-3 DE-627 ger DE-627 rakwb eng 610 610 DE-600 610 VZ 44.90 bkl Meshaal, Safa verfasserin aut Mutations in Recombination Activating Gene 1 and 2 in patients with severe combined immunodeficiency disorders in Egypt 2015transfer abstract 7 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier The Recombination Activating Genes (RAG) 1/2 are important for the development and function of T and B cells. Loss of RAG1/2 function results in severe combined immunodeficiency (SCID), which could lead to early death. We studied the prevalence of RAG1/2 mutations in ten SCID patients in Egypt. We identified two novel homozygous nonsense mutations in RAG1, a novel homozygous deletion, and a previously reported homozygous missense mutation from four patients, as well as two homozygous mutations in RAG2 from the same patient. Prenatal diagnosis performed in the mother of a patient with RAG1 deficiency determined that the fetus was heterozygous for the same mutation. This represents the first report on RAG1/2 mutations in SCID patients in Egypt. The early diagnosis dramatically affects the outcome of the disease by allowing bone marrow transplantation at an early age, and providing prenatal diagnosis and genetic counseling for families with a history of SCID. The Recombination Activating Genes (RAG) 1/2 are important for the development and function of T and B cells. Loss of RAG1/2 function results in severe combined immunodeficiency (SCID), which could lead to early death. We studied the prevalence of RAG1/2 mutations in ten SCID patients in Egypt. We identified two novel homozygous nonsense mutations in RAG1, a novel homozygous deletion, and a previously reported homozygous missense mutation from four patients, as well as two homozygous mutations in RAG2 from the same patient. Prenatal diagnosis performed in the mother of a patient with RAG1 deficiency determined that the fetus was heterozygous for the same mutation. This represents the first report on RAG1/2 mutations in SCID patients in Egypt. The early diagnosis dramatically affects the outcome of the disease by allowing bone marrow transplantation at an early age, and providing prenatal diagnosis and genetic counseling for families with a history of SCID. El Hawary, Rabab oth Elsharkawy, Marwa oth Mousa, Reem K. oth Farid, Reem J. oth Abd Elaziz, Dalia oth Alkady, Radwa oth Galal, Nermeen oth Massaad, Michel J. oth Boutros, Jeannette oth Elmarsafy, Aisha oth Enthalten in Elsevier Bušková, Jitka ELSEVIER Comorbid episodes of primary bruxism and bruxism as an epileptic activity-related motor event 2019 San Diego, Calif (DE-627)ELV003196453 volume:158 year:2015 number:2 pages:167-173 extent:7 https://doi.org/10.1016/j.clim.2015.04.003 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 44.90 Neurologie VZ AR 158 2015 2 167-173 7 045F 610 |
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10.1016/j.clim.2015.04.003 doi GBVA2015005000025.pica (DE-627)ELV028763491 (ELSEVIER)S1521-6616(15)00133-3 DE-627 ger DE-627 rakwb eng 610 610 DE-600 610 VZ 44.90 bkl Meshaal, Safa verfasserin aut Mutations in Recombination Activating Gene 1 and 2 in patients with severe combined immunodeficiency disorders in Egypt 2015transfer abstract 7 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier The Recombination Activating Genes (RAG) 1/2 are important for the development and function of T and B cells. Loss of RAG1/2 function results in severe combined immunodeficiency (SCID), which could lead to early death. We studied the prevalence of RAG1/2 mutations in ten SCID patients in Egypt. We identified two novel homozygous nonsense mutations in RAG1, a novel homozygous deletion, and a previously reported homozygous missense mutation from four patients, as well as two homozygous mutations in RAG2 from the same patient. Prenatal diagnosis performed in the mother of a patient with RAG1 deficiency determined that the fetus was heterozygous for the same mutation. This represents the first report on RAG1/2 mutations in SCID patients in Egypt. The early diagnosis dramatically affects the outcome of the disease by allowing bone marrow transplantation at an early age, and providing prenatal diagnosis and genetic counseling for families with a history of SCID. The Recombination Activating Genes (RAG) 1/2 are important for the development and function of T and B cells. Loss of RAG1/2 function results in severe combined immunodeficiency (SCID), which could lead to early death. We studied the prevalence of RAG1/2 mutations in ten SCID patients in Egypt. We identified two novel homozygous nonsense mutations in RAG1, a novel homozygous deletion, and a previously reported homozygous missense mutation from four patients, as well as two homozygous mutations in RAG2 from the same patient. Prenatal diagnosis performed in the mother of a patient with RAG1 deficiency determined that the fetus was heterozygous for the same mutation. This represents the first report on RAG1/2 mutations in SCID patients in Egypt. The early diagnosis dramatically affects the outcome of the disease by allowing bone marrow transplantation at an early age, and providing prenatal diagnosis and genetic counseling for families with a history of SCID. El Hawary, Rabab oth Elsharkawy, Marwa oth Mousa, Reem K. oth Farid, Reem J. oth Abd Elaziz, Dalia oth Alkady, Radwa oth Galal, Nermeen oth Massaad, Michel J. oth Boutros, Jeannette oth Elmarsafy, Aisha oth Enthalten in Elsevier Bušková, Jitka ELSEVIER Comorbid episodes of primary bruxism and bruxism as an epileptic activity-related motor event 2019 San Diego, Calif (DE-627)ELV003196453 volume:158 year:2015 number:2 pages:167-173 extent:7 https://doi.org/10.1016/j.clim.2015.04.003 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 44.90 Neurologie VZ AR 158 2015 2 167-173 7 045F 610 |
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Enthalten in Comorbid episodes of primary bruxism and bruxism as an epileptic activity-related motor event San Diego, Calif volume:158 year:2015 number:2 pages:167-173 extent:7 |
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Comorbid episodes of primary bruxism and bruxism as an epileptic activity-related motor event |
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Meshaal, Safa @@aut@@ El Hawary, Rabab @@oth@@ Elsharkawy, Marwa @@oth@@ Mousa, Reem K. @@oth@@ Farid, Reem J. @@oth@@ Abd Elaziz, Dalia @@oth@@ Alkady, Radwa @@oth@@ Galal, Nermeen @@oth@@ Massaad, Michel J. @@oth@@ Boutros, Jeannette @@oth@@ Elmarsafy, Aisha @@oth@@ |
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Mutations in Recombination Activating Gene 1 and 2 in patients with severe combined immunodeficiency disorders in Egypt |
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The Recombination Activating Genes (RAG) 1/2 are important for the development and function of T and B cells. Loss of RAG1/2 function results in severe combined immunodeficiency (SCID), which could lead to early death. We studied the prevalence of RAG1/2 mutations in ten SCID patients in Egypt. We identified two novel homozygous nonsense mutations in RAG1, a novel homozygous deletion, and a previously reported homozygous missense mutation from four patients, as well as two homozygous mutations in RAG2 from the same patient. Prenatal diagnosis performed in the mother of a patient with RAG1 deficiency determined that the fetus was heterozygous for the same mutation. This represents the first report on RAG1/2 mutations in SCID patients in Egypt. The early diagnosis dramatically affects the outcome of the disease by allowing bone marrow transplantation at an early age, and providing prenatal diagnosis and genetic counseling for families with a history of SCID. |
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The Recombination Activating Genes (RAG) 1/2 are important for the development and function of T and B cells. Loss of RAG1/2 function results in severe combined immunodeficiency (SCID), which could lead to early death. We studied the prevalence of RAG1/2 mutations in ten SCID patients in Egypt. We identified two novel homozygous nonsense mutations in RAG1, a novel homozygous deletion, and a previously reported homozygous missense mutation from four patients, as well as two homozygous mutations in RAG2 from the same patient. Prenatal diagnosis performed in the mother of a patient with RAG1 deficiency determined that the fetus was heterozygous for the same mutation. This represents the first report on RAG1/2 mutations in SCID patients in Egypt. The early diagnosis dramatically affects the outcome of the disease by allowing bone marrow transplantation at an early age, and providing prenatal diagnosis and genetic counseling for families with a history of SCID. |
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The Recombination Activating Genes (RAG) 1/2 are important for the development and function of T and B cells. Loss of RAG1/2 function results in severe combined immunodeficiency (SCID), which could lead to early death. We studied the prevalence of RAG1/2 mutations in ten SCID patients in Egypt. We identified two novel homozygous nonsense mutations in RAG1, a novel homozygous deletion, and a previously reported homozygous missense mutation from four patients, as well as two homozygous mutations in RAG2 from the same patient. Prenatal diagnosis performed in the mother of a patient with RAG1 deficiency determined that the fetus was heterozygous for the same mutation. This represents the first report on RAG1/2 mutations in SCID patients in Egypt. The early diagnosis dramatically affects the outcome of the disease by allowing bone marrow transplantation at an early age, and providing prenatal diagnosis and genetic counseling for families with a history of SCID. |
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