scholarly journals Dramatic response of metastatic cutaneous angiosarcoma to an immune checkpoint inhibitor in a patient with xeroderma pigmentosum: whole-genome sequencing aids treatment decision in end-stage disease

2019 ◽  
Vol 5 (5) ◽  
pp. a004408 ◽  
Author(s):  
Sophie Momen ◽  
Hiva Fassihi ◽  
Helen R. Davies ◽  
Christos Nikolaou ◽  
Andrea Degasperi ◽  
...  
Keyword(s):  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Immune Checkpoint ◽  
Xeroderma Pigmentosum ◽  
Immune Checkpoint Inhibitor ◽  
Checkpoint Inhibitor ◽  
Treatment Decision ◽  
Whole Genome ◽  
Stage Disease ◽  
End Stage

A 10-year follow-up of a child with mild case of xeroderma pigmentosum complementation group D diagnosed by whole-genome sequencing

2016 ◽  
Vol 32 (4) ◽  
pp. 174-180 ◽  
Author(s):  
Ryusuke Ono ◽  
Taro Masaki ◽  
Franklin Mayca Pozo ◽  
Yuka Nakazawa ◽  
Sigrid M. A. Swagemakers ◽  
...  
Keyword(s):  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Xeroderma Pigmentosum ◽  
Complementation Group ◽  
Whole Genome ◽  
Mild Case ◽  
Group D

scholarly journals Diagnostic utility of whole-genome sequencing for nephronophthisis

2020 ◽  
Vol 5 (1) ◽  
Author(s):  
Romain Larrue ◽  
Paul Chamley ◽  
Thomas Bardyn ◽  
Arnaud Lionet ◽  
Viviane Gnemmi ◽  
...  
Keyword(s):  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Molecular Diagnosis ◽  
Kidney Diseases ◽  
Single Gene ◽  
Whole Genome ◽  
Autosomal Recessive Disorders ◽  
Monogenic Disorders ◽  
Diagnosis And Prognosis ◽  
End Stage

Abstract Next-generation sequencing has revolutionized the molecular diagnosis of individuals affected by genetic kidney diseases. Indeed, rapid genetic testing in individuals with suspected inherited nephropathy has not only important implications for diagnosis and prognosis but also for genetic counseling. Nephronophthisis (NPHP) and related syndromes, a leading cause of end-stage renal failure, are autosomal recessive disorders characterized by the variable presentation and considerable locus heterogeneity with more than 90 genes described as single-gene causes. In this case report, we demonstrate the utility of whole-genome sequencing (WGS) for the molecular diagnosis of NPHP by identifying two putative disease-causing intronic mutations in the NPHP3 gene, including one deep intronic variant. We further show that both intronic variants, by affecting splicing, result in a truncated nephrocystin-3 protein. This study provides a framework for applying WGS as a first-line diagnostic tool for highly heterogeneous disease such as NPHP and further suggests that deep intronic variations are an important underestimated cause of monogenic disorders.

759 IMMUNE CHECKPOINT INHIBITOR-ASSOCIATED CELIAC DISEASE

2020 ◽  
Vol 158 (6) ◽  
pp. S-156
Author(s):  
Yousef R. Badran ◽  
Angela Shih ◽  
Donna Leet ◽  
Alexandra Coromilas ◽  
Jonathan Chen ◽  
...  
Keyword(s):  
Celiac Disease ◽  
Immune Checkpoint ◽  
Immune Checkpoint Inhibitor ◽  
Checkpoint Inhibitor

Abstract #514 Secondary Adrenal Insufficiency Due to the Immune Checkpoint Inhibitor Pembrolizumab

2019 ◽  
Vol 25 ◽  
pp. 256
Author(s):  
Mohammad Ansari ◽  
Ula Tarabichi ◽  
Hadoun Jabri ◽  
Qiang Nai ◽  
Anis Rehman ◽  
...  
Keyword(s):  
Adrenal Insufficiency ◽  
Immune Checkpoint ◽  
Immune Checkpoint Inhibitor ◽  
Checkpoint Inhibitor ◽  
Secondary Adrenal Insufficiency

Utility of Whole Genome Sequencing in diagnosing complex disorders: lesson from renal tubular disorders

2018 ◽  
Author(s):  
Mark Stevenson ◽  
Alistair T Pagnamenta ◽  
Heather G Mack ◽  
Judith A Savige ◽  
Kate E Lines ◽  
...  
Keyword(s):  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Whole Genome ◽  
Complex Disorders ◽  
Tubular Disorders ◽  
Renal Tubular Disorders ◽  
Renal Tubular

A Systematic Review of Cases of Diabetes Mellitus following Immune Checkpoint Inhibitor Therapy for Cancer

Diabetes ◽  
2018 ◽  
Vol 67 (Supplement 1) ◽  
pp. 204-LB ◽  
Author(s):  
KARA R. MIZOKAMI-STOUT ◽  
ROMA GIANCHANDANI ◽  
MARK MACEACHERN ◽  
RAVI M. IYENGAR ◽  
SARAH YENTZ ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Systematic Review ◽  
Immune Checkpoint ◽  
Immune Checkpoint Inhibitor ◽  
Checkpoint Inhibitor ◽  
Inhibitor Therapy ◽  
Checkpoint Inhibitor Therapy

1672-P: Characterization of Immune Checkpoint Inhibitor–Mediated Hyperglycemia: Beyond Insulin-Dependent Diabetes

Diabetes ◽  
2020 ◽  
Vol 69 (Supplement 1) ◽  
pp. 1672-P
Author(s):  
AMANDA LEITER ◽  
EMILY CARROLL ◽  
DANIELLE C. BROOKS ◽  
JENNIFER BEN SHIMOL ◽  
ELLIOT EISENBERG ◽  
...  
Keyword(s):  
Immune Checkpoint ◽  
Immune Checkpoint Inhibitor ◽  
Checkpoint Inhibitor ◽  
Insulin Dependent Diabetes ◽  
Insulin Dependent
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