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. 2019 Oct;39(7):739-742.
doi: 10.1007/s10875-019-00667-8. Epub 2019 Aug 3.

LINE-1-Mediated AluYa5 Insertion Underlying Complete Autosomal Recessive IFN-γR1 Deficiency

Jérémie Rosain  1   2   3 , Caroline Deswarte  4   5 , Gonca Hancioglu  6 , Carmen Oleaga-Quintas  4   5 , Seyhan Kutlug  6 , Ibrahim Kartal  7 , Isinsu Kuzu  8 , Laurie Toullec  9 , Maud Tusseau  9 , Jean-Laurent Casanova  4   5   10   11   12 , Alisan Yildiran  6 , Jacinta Bustamante  13   14   15   16
Affiliations

LINE-1-Mediated AluYa5 Insertion Underlying Complete Autosomal Recessive IFN-γR1 Deficiency

Jérémie Rosain et al. J Clin Immunol. 2019 Oct.
No abstract available

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Conflict of interest statement

Disclosures of conflicts of interest. The authors have no conflict of interest to declare.

Figures

Figure 1 –
Figure 1 –. Complete AR IFN-γR1 deficiency caused by homozygous truncated AluYa5 insertion.
(A) Pedigree of the affected family. Males and females are represented by squares and circles, respectively. Each generation and each individual are designated by a Roman and an Arabic numeral, respectively. Multiple siblings are designated by numbers within the symbol. Individual with MSMD is shown as closed black symbols and the index case is indicated with an arrow. Individuals whose genetic status could not be tested are designated “E?”. Mut=mutated; WT=wild-type. (B) Targeted PCR of IFNGR1 exon 3 in a healthy control (HC). (C) Forward and reverse Sanger sequencing of the IFNGR1 exon 3 PCR product from the patient (V.1). (D) Diagram of the IFNGR1 mutation in the patient (V.1). The mutation within exon 3 consists of (i) an insertion of a thymidine repeat of ~35 bp (in red) and a 248 bp sequence (in gray) corresponding to a truncated reverse AluYa5 element, (ii) and a 15 bp duplication of the exon 3 sequence flanking the insertion. (E) Flow cytometry study of cell-surface IFN-γR1 expression in EBV-B cells from a healthy control (HC), the patient (V.1), and another patient with known complete AR IFN-γR1 deficiency (C-). (F) Flow cytometry study of STAT1 phosphorylation in EBV-B cells from a healthy control (HC), the patient (V.1), and another patient with known complete AR IFN-γR1 deficiency (C-).
See this image and copyright information in PMC

References

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