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Whole‐exome sequencing of T(‐)B(+) severe combined immunodeficiency in Egyptian infants, JAK3 predominance and novel variants
Severe combined immunodeficiency (SCID) is fatal if not treated with immune reconstitution. In Egypt, T(‐)B(+) SCID accounts for 38·5% of SCID diagnoses. An accurate genetic diagnosis is essential for choosing appropriate treatment modalities and for offering genetic counseling to the patient’s fami...
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| 出版年: | Clin Exp Immunol |
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| 主要な著者: | , , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
John Wiley and Sons Inc.
2020
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7874839/ https://ncbi.nlm.nih.gov/pubmed/33040328 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cei.13536 |
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