{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Mohajeri A"],"funding":["The University of British Columbia Four Year Doctoral Fellowship","National Institutes of Health","Tier 1 Canada Research Chair in Pediatric Precision Health","Canadian Institutes of Health Research","Vanier Canada Graduate Scholarship","Aubrey J. Tingle Professor of Pediatric Immunology","Office of Strategic Coordination/Office of the NIH Director under Award","Health Professional-Investigator award from Michael Smith Health Research BC","NHGRI NIH HHS","Jeffrey Modell Foundation","Genome British Columbia","Genome Canada","BC Children’s Hospital Research Institute","Providence Healthcare Research Institute Early Career Investigator award"],"pagination":["1092-1104"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11206234"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["60(11)"],"pubmed_abstract":["<h4>Background</h4>Helios (encoded by <i>IKZF2</i>), a member of the Ikaros family of transcription factors, is a zinc finger protein involved in embryogenesis and immune function. Although predominantly recognised for its role in the development and function of T lymphocytes, particularly the CD4<sup>+</sup> regulatory T cells (Tregs), the expression and function of Helios extends beyond the immune system. During embryogenesis, Helios is expressed in a wide range of tissues, making genetic variants that disrupt the function of Helios strong candidates for causing widespread immune-related and developmental abnormalities in humans.<h4>Methods</h4>We performed detailed phenotypic, genomic and functional investigations on two unrelated individuals with a phenotype of immune dysregulation com"],"journal":["Journal of medical genetics"],"pubmed_title":["Dominant negative variants in <i>IKZF2</i> cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay."],"pmcid":["PMC11206234"],"funding_grant_id":["F32 HG000130","PJT 178054","F17-04161","U01 HG007709","U01HG007709"],"pubmed_authors":["Dasari S","Lin S","Armstrong L","Undiagnosed Diseases Network","Liu XZ","Emrick LT","Solem E","Wener M","Novacic D","Halparin J","Care4Rare Canada Consortium","Worley K","Sutton S","Don Hadley SH","Cunningham M","Amendola L","Butte MJ","Jobanputra V","Walker M","Stoler JM","Jean-Marie O","Lawrence Merritt J","Bonner D","Kozuira M","Worley KC","Cooper CM","Loo SK","Smith EC","Coakley TR","Palmer CG","Fieg EL","Papp JC","Bellen HJ","Acosta MT","Sessions Cole F","Kozak FK","Posey JE","Lanza IR","van Karnebeek C","Salman A","Silverman EK","Rahmanian R","Forghani I","Dayal JG","Jarvik GP","Vogel TP","Adams DR","Duncan L","Krakow D","Byers P","Martin MG","Bale J","Fisher PG","Fogel BL","Mahoney R","Renteria G","Sinsheimer JS","Lanpher BC","Scott DA","Izumi K","McCray AT","Whitlock J","Newman JH","Chang TP","Sweetser DA","Adam M","Alvey J","Tran AA","Gochuico B","Macnamara EF","Carrasquillo O","Cobban LA","Nickerson D","Berg-Rood B","Raper A","Davis J","Hildebrand KJ","Marth G","Cogan JD","Schaechter J","Wang LK","Nicholas SK","Bivona S","Tabor HK","Wenger T","Bejerano G","Mulvihill J","Jarvik J","Craigen WJ","Might M","Sharma M","Boyd B","Kennedy J","Isasi R","Wangler MF","Karaviti L","Pak S","Zuchner S","Bayrak-Toydemir P","Hisama FM","Martin BA","Henkelman E","Hayes N","Longo N","Ketkar S","Rosenfeld JA","Jamal F","Mao R","Liu P","Sullivan K","Mamounas LA","Wallace S","Wambach J","Lalani SR","Alvarez RL","Dorrani N","Parker NH","Blue E","Saporta M","Orengo JP","Thorson W","Telischi F","Wheeler MT","Hing A","Horike-Pyne M","Del Bel KL","Martinez-Agosto JA","Bennett J","Kilich G","Bamshad M","Corona R","Zhang Z","Tekin M","Eng CM","D'Souza P","Hom J","Kravets E","Carl Pallais J","Nelson SF","Waqas M","Halley MC","Smith KS","Sybert V","Introne W","Krasnewich DM","Bohnsack J","Urv TK","Tifft CJ","Wan J","Baldridge D","Lewis RA","Holm IA","Sacco R","Solomon B","Solnica-Krezel L","Biggs CM","Clark GD","McCauley J","Rodan LH","Sababi Azamian M","Byrd WE","Kohane IS","Nieves-Rodriguez S","Beck A","Moretti P","Potocki L","Grajewski A","Crouse AB","Glass I","Lehman A","Wegner D","Doss AL","Ron Scott C","Hutchison S","Rives L","Coggins M","Andrews A","Kiley D","Kohler JN","Shashi V","Behrens E","Botto L","Ashley EA","Bacino CA","Chanprasert S","Eckstein DJ","Barbouth D","Yang GX","Briere LC","Quinlan A","Malicdan MV","Ruzhnikov M","Mohajeri A","Maravilla K","Beggs AH","Marwaha S","Nakano-Okuno M","Hamid R","Reuter CM","Xiao C","Dai H","Spillmann RC","Goddard PC","Sisco K","Sun A","Vanderver A","Balasubramanyam A","Burrage LC","Shin J","Brown G","Schoch K","Marom R","Ungar RA","Manolio TA","Toro C","Pace L","Lee BH","Cassini T","Chao HT","Huang A","Oglesbee D","PuseySwerdzewski BN","Velinder M","Yang J","McConkie-Rosell A","Morava E","Maduro VV","Yamamoto S","Viskochil D","Carey J","Sampson JB","Lu H","Levitt R","Bademci G","Falk M","High F","Bernstein JA","Berry GT","Mostafavi S","Turvey SE","Bican A","Burke EA","Brokamp E","Kobren SN","Yang CL","Lam B","LeBlanc K","Lam C","Rossignol F","Walley NM","Robertson AK","Hassey K","Tan AL","Cope H","Ward PA","Earl D","McGee E","MacRae CA","Hubshman MW","Mefford H","Sullivan JA","Doherty D","Mirzaa G","PhillipsIII JA","Rosenwasser N","Vaseghi-Shanjani M","Maas RL","Colley HA","Gahl WA","Loscalzo J","Schedl T","Jayadev S","Rao DA","Dipple K","Wolfe LA","Korrick S","Raskind W","Dell'Angelica EC","Godfrey RA","Tan QK","Westerfield M","Douine ED","Wahl CE","Golden-Grant K"],"additional_accession":[]},"is_claimable":false,"name":"Dominant negative variants in <i>IKZF2</i> cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay.","description":"<h4>Background</h4>Helios (encoded by <i>IKZF2</i>), a member of the Ikaros family of transcription factors, is a zinc finger protein involved in embryogenesis and immune function. Although predominantly recognised for its role in the development and function of T lymphocytes, particularly the CD4<sup>+</sup> regulatory T cells (Tregs), the expression and function of Helios extends beyond the immune system. During embryogenesis, Helios is expressed in a wide range of tissues, making genetic variants that disrupt the function of Helios strong candidates for causing widespread immune-related and developmental abnormalities in humans.<h4>Methods</h4>We performed detailed phenotypic, genomic and functional investigations on two unrelated individuals with a phenotype of immune dysregulation com","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Nov","modification":"2026-04-29T23:17:24.479Z","creation":"2026-04-07T15:37:15.198Z"},"accession":"S-EPMC11206234","cross_references":{"pubmed":["37316189"],"doi":["10.1136/jmg-2022-109127"]}}