IL2RG: A series of three novel mutations with clinical manifestations
Abstract
Background: X-linked severe combined immunodeficiency (SCID) is caused by mutations in the IL2RG gene and classically presents with absent T cells and natural killer (NK) cells. Mutational analysis has contributed to the understanding of this gene.
Methods: The primary immunodeficiency (PID) registry was reviewed for patients with SCID with novel IL2RG mutations. The clinical phenotype was assessed using a retrospective chart review.
Results: We describe 3 novel mutations in the IL2RG. The first was a guanine to adenine substitution at position 215 (c.215 G > A) in exon 2 leading to a cysteine to tyrosine substitution at position 72 (p.Cys72Tyr), with a typical T− B+ NK− phenotype. The second was a deletion of thymine at position 618 and adenine at position 619 (c.618_619TA) in exon 5, leading to a frameshift at the 206 amino acid (p.His206fs). The phenotype was characterized by a classic SCID presentation and immunophenotyping revealed a low number of absolute lymphocytes with mostly B cells, low levels of immunoglobulins, as well as very low NK cells. Finally, the third mutation was a guanine to cytosine substitution at position 341 (c.341 G > C) in exon 3 leading to a glycine to alanine substitution at position 114 (p.Gly114Ala), presenting with a T+ B+ NK+ phenotype. The presence of T and NK cells in IL2RG are discussed in the context of other mutations allowing for T and NK cells in IL2RG mutations, as well as in the setting of maternal engraftment.
Conclusion: To the best of our knowledge we describe 3 novel mutations in the IL2RG gene and the associated phenotypes. These mutations illustrate that these patients can have atypical immunological evaluations.
Statement of novelty: To the best of our knowledge, this paper describes 3 novel mutations in the IL2RG gene.
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Published In
LymphoSign Journal
Volume 3 • Number 3 • September 2016
Pages: 111 - 118
History
Received: 21 February 2016
Accepted: 17 May 2016
Accepted manuscript online: 19 May 2016
Version of record online: 19 May 2016
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© 2016.
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AlishaJamal and Julia E.M.Upton. 2016. IL2RG: A series of three novel mutations with clinical manifestations. LymphoSign Journal.
3(3): 111-118. https://doi.org/10.14785/lymphosign-2016-0003
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