List of works - Ivan K Chinn

A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function

scientific article published on 10 October 2019

Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in Folliculin Interacting Protein 1 deficiency

scientific article published on 09 September 2020

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes

Biallelic mutations in IRF8 impair human NK cell maturation and function ⬇️

scientific article

Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID

scientific article published on 02 June 2020

First Case of CD40LG Deficiency in Ecuador, Diagnosed after Whole Exome Sequencing in a Patient with Severe Cutaneous Histoplasmosis

scientific article published on 10 February 2017

Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis.

scientific article published on 9 April 2018

HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease

scientific article published on 01 July 2020

Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome.

scientific article

Human NK cell deficiency as a result of biallelic mutations in MCM10

scientific article published on 31 August 2020

Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles

article

Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome with NK dysfunction and EBV-driven malignancy treated with stem cell transplantation

scientific article published on 11 September 2019

Mechanisms of tolerance to parental parathyroid tissue when combined with human allogeneic thymus transplantation ⬇️

scientific article published on September 15, 2010

Mutations in PI3K110δ cause impaired NK cell function partially rescued by rapamycin treatment

scientific article published on 9 January 2018

Novel Combined Immune Deficiency and Radiation Sensitivity Blended Phenotype in an Adult with Biallelic Variations in ZAP70 and RNF168.

scientific article

Novel Heterozygous Mutation in NFKB2 Is Associated With Early Onset CVID and a Functional Defect in NK Cells Complicated by Disseminated CMV Infection and Severe Nephrotic Syndrome

scientific article published on 30 July 2019

PI Prob: A risk prediction and clinical guidance system for evaluating patients with recurrent infections

scientific article published on 16 February 2021

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

scientific article

Pro-inflammation Associated with a Gain-of-Function Mutation (R284S) in the Innate Immune Sensor STING.

scientific article published in April 2018

Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing.

scientific article published on 12 July 2016

List of works by Ivan K Chinn

A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function

Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in Folliculin Interacting Protein 1 deficiency

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes

Biallelic mutations in IRF8 impair human NK cell maturation and function ⬇️

Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID

First Case of CD40LG Deficiency in Ecuador, Diagnosed after Whole Exome Sequencing in a Patient with Severe Cutaneous Histoplasmosis

Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis.

HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease

Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome.

Human NK cell deficiency as a result of biallelic mutations in MCM10

Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles

Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome with NK dysfunction and EBV-driven malignancy treated with stem cell transplantation

Mechanisms of tolerance to parental parathyroid tissue when combined with human allogeneic thymus transplantation ⬇️

Mutations in PI3K110δ cause impaired NK cell function partially rescued by rapamycin treatment

Novel Combined Immune Deficiency and Radiation Sensitivity Blended Phenotype in an Adult with Biallelic Variations in ZAP70 and RNF168.

Novel Heterozygous Mutation in NFKB2 Is Associated With Early Onset CVID and a Functional Defect in NK Cells Complicated by Disseminated CMV Infection and Severe Nephrotic Syndrome

PI Prob: A risk prediction and clinical guidance system for evaluating patients with recurrent infections

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

Pro-inflammation Associated with a Gain-of-Function Mutation (R284S) in the Innate Immune Sensor STING.

Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing.