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Family Members with Congenital Heart Disease and Hypogammaglobulinemia

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Pediatric Immunology

Abstract

DiGeorge syndrome is caused by a small deletion in chromosome 22

Multiplex PCR with oligonucleotide probe ligation is a gold standard method for diagnosis of DiGeorge syndrome

Leukopenia, low CD3+ cells count, low serum calcium, arterial trunk and ventricular septal defect, and hypoplasia of the thymus should direct toward a diagnosis of DiGeorge syndrome

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References

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Tuzankina, I.A., Bolkov, M.A., Deryabina, S.S., Vlasova, E.V. (2019). Family Members with Congenital Heart Disease and Hypogammaglobulinemia. In: Rezaei, N. (eds) Pediatric Immunology. Springer, Cham. https://doi.org/10.1007/978-3-030-21262-9_127

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  • DOI: https://doi.org/10.1007/978-3-030-21262-9_127

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-21261-2

  • Online ISBN: 978-3-030-21262-9

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