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

A Novel Recessive Mutation of Interferon-γ Receptor 1 in a Patient with Mycobacterium tuberculosis in Bone Marrow Aspirate

(2019) Mahsima Shabani et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Interferon-γ Receptor 1 Deficiency Corrected by Umbilical Cord Blood Transplantation

(2019) Thomas F. Michniacki et al.   JOURNAL OF CLINICAL IMMUNOLOGY

A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency

(2018) Jérémie Rosain et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Mendelian susceptibility to mycobacterial disease: 2014-2018 update

(2018) Jérémie Rosain et al.   IMMUNOLOGY AND CELL BIOLOGY

Computational tools to unmask transposable elements

(2018) Patricia Goerner-Potvin et al.   NATURE REVIEWS GENETICS

IFN-γ and CD25 drive distinct pathologic features during hemophagocytic lymphohistiocytosis

(2018) Stéphanie Humblet-Baron et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Alu insertion variants alter mRNA splicing

(2018) Lindsay M Payer et al.   NUCLEIC ACIDS RESEARCH

Deletion of the entire interferon-γ receptor 1 gene causing complete deficiency in three related patients

(2016) Inge C. de Vor et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Roles for retrotransposon insertions in human disease

(2016) Dustin C. Hancks et al.   Mobile DNA

Alu elements: know the SINEs

(2011) Prescott Deininger   GENOME BIOLOGY