2019
Recessive Mutations in KIF12 Cause High Gamma‐Glutamyltransferase Cholestasis
Aksu A, Das SK, Nelson‐Williams C, Jain D, Hoşnut F, Şahin G, Lifton RP, Vilarinho S. Recessive Mutations in KIF12 Cause High Gamma‐Glutamyltransferase Cholestasis. Hepatology Communications 2019, 3: 471-477. PMID: 30976738, PMCID: PMC6442693, DOI: 10.1002/hep4.1320.Peer-Reviewed Original ResearchLiver diseaseHigh GGTUndiagnosed liver diseaseHomozygous mutationCholestatic liver diseaseUnmet medical needWhole-exome sequencingSame homozygous mutationPediatric hepatologyNeonatal cholestasisRare homozygous mutationUnclear etiologyCholestasisUndiagnosed childrenMedical needUnrelated childrenGermline DNADiseaseMember 12ChildrenConsanguineous unionsOlder siblingsMissense mutationsGGTDamaging mutations
2018
Prototheca zopfii Colitis in Inherited CARD9 Deficiency
Sari S, Dalgic B, Muehlenbachs A, DeLeon-Carnes M, Goldsmith CS, Ekinci O, Jain D, Keating MK, Vilarinho S. Prototheca zopfii Colitis in Inherited CARD9 Deficiency. The Journal Of Infectious Diseases 2018, 218: 485-489. PMID: 29659908, PMCID: PMC6049027, DOI: 10.1093/infdis/jiy198.Peer-Reviewed Original ResearchConceptsCARD9 deficiencyInherited CARD9 DeficiencySpecific immune defectsAbdominal painImmune defectsBloody diarrheaImmunocompromised individualsExome sequencingHuman protothecosisConsanguineous unionsProtothecosisNew mechanistic insightsFrameshift mutationDeficiencyPancolitisColitisPainDiarrheaPatientsPrototheca zopfiiImmunodeficiencyCARD9InfectionImmunityMonths