Dr Erika Della Mina

Conjoint Associate Lecturer
Medicine & Health
School of Clinical Medicine

Dr. Erika Della Mina is a Research Officer in the Tangye Laboratory at the Garvan Institute of Medical Research.
She earned her PhD summa cum laude from the University of Pavia, Italy, where she pioneered Next Generation Sequencing applications for complex genetic disorders. During her postdoctoral training at the Imagine Institute in Paris, Erika worked with Professors Jean-Laurent Casanova and Laurent Abel to uncover mechanisms behind novel inborn errors of immunity (IEI), including IRAK1TIRAP, and IL17RA deficiencies. She subsequently joined Professor Yanick Crow’s team, contributing to the identification of key interferonopathies such as DNaseIIcGAS, and ATAD3A deficiencies.

Currently, Erika investigates the functional consequences of genetic variants in rare IEIs, specifically those affecting B cell development, maturation and function. By employing orthogonal strategies to concomitantly assess molecular, transcriptional, biochemical, and cellular readouts she works to decipher “variants of unknown significance” (VOUS). Her research focuses on defining molecular pathogenesis to drive definitive diagnoses, family screening and the development of personalised therapies.

If you are passionate about advancing research in inborn errors of immunity, please reach out to e.dellamina@garvan.org.au to explore available PhD and Honours projects.

Location
Garvan Institute of Medical Research 384 Victoria Street, Darlinghurst NSW 2010
  • Journal articles | 2026
    Vatovec T; Neehus AL; Jackson KJL; Avery DT; Bagarić I; Erazo L; Arango-Franco CA; Ogishi M; Ahmed SF; Cederholm A; Russell AJ; Della Mina E; Al-Rifai D; Bull R; Buetow L; Sobrino S; Zhang A; Wahlster L; Michelet M; Parvaneh N; Peel J; Barzaghi F; Leardini D; Philippot Q; Saettini F; Dutrieux J; de Muylder B; Vendemini F; Baccelli F; Catala A; Gambineri E; Veltroni M; Pandiarajan V; Aguilar Y; Haerynck F; Elliott M; Turville S; Brillot F; Khan T; Consonni F; Berteloot L; Sewell WA; Rao G; Largeaud L; Conti F; Roullion C; Masson C; Pegoraro F; Ye T; Joubran S; Villalpando E; Bessot B; Seeleuthner Y; Le Voyer T; Rosain J; Li H; Janda Z; Muratore E; Soudée C; Delabesse E; Goulvestre C; Shahrooei M; Puel A; André I; Bole-Feysot C; Abel L; Erlacher M; Béziat V; Lagresle-Peyrou C; Cheynier R; Six E; Marr N; Pasquet M; Alsina L; Goodnow CC; Landegren N; Aiuti A; Zhang P; Masetti R; Huang DT; Ma CS; Casanova JL; Sankaran VG; Bustamante J; Tangye SG; Bohlen J, 2026, 'Somatic deficiency of the human E3 ubiquitin ligase CBL in leukocytes impairs B cell but not T cell development and function', Nature Immunology, 27, pp. 308 - 322, http://dx.doi.org/10.1038/s41590-025-02381-7
    Journal articles | 2025
    Huynh A; E Gray P; Sullivan A; Mackie J; Guerin A; Rao G; Pathmanandavel K; Della Mina E; Hollway G; Hobbs M; Enthoven K; O’Young P; McManus S; H. Wainwright L; Higgins M; Noon F; Wong M; Bastard P; Zhang Q; Casanova JL; Hsiao KC; Pinzon-Charry A; S Ma C; G. Tangye S, 2025, 'Correction to: A Novel Case of IFNAR1 Deficiency Identified a Common Canonical Splice Site Variant in DOCK8 in Western Polynesia: The Importance of Validating Variants of Unknown Significance in Under-Represented Ancestries (Journal of Clinical Immunology, (2024), 44, 8, (170), 10.1007/s10875-024-01774-x)', Journal of Clinical Immunology, 45, http://dx.doi.org/10.1007/s10875-024-01801-x
    Journal articles | 2024
    Huynh A; Gray PE; Sullivan A; Mackie J; Guerin A; Rao G; Pathmanandavel K; Mina ED; Hollway G; Hobbs M; Enthoven K; O’Young P; McManus S; Wainwright LH; Higgins M; Noon F; Wong M; Bastard P; Zhang Q; Casanova JL; Hsiao KC; Pinzon-Charry A; Ma CS; Tangye SG, 2024, 'A Novel Case of IFNAR1 Deficiency Identified a Common Canonical Splice Site Variant in DOCK8 in Western Polynesia: The Importance of Validating Variants of Unknown Significance in Under-Represented Ancestries', Journal of Clinical Immunology, 44, http://dx.doi.org/10.1007/s10875-024-01774-x
    Journal articles | 2024
    Mina ED; Jackson KJL; Crawford AJI; Faulks ML; Pathmanandavel K; Acquarola N; O’Sullivan M; Kerre T; Naesens L; Claes K; Goodnow CC; Haerynck F; Kracker S; Meyts I; D’Orsogna LJ; Ma CS; Tangye SG; Della Mina E, 2024, 'A Novel Heterozygous Variant in AICDA Impairs Ig Class Switching and Somatic Hypermutation in Human B Cells and is Associated with Autosomal Dominant HIGM2 Syndrome', Journal of Clinical Immunology, 44, pp. 66, http://dx.doi.org/10.1007/s10875-024-01665-1
    Journal articles | 2024
    Momenilandi M; Lévy R; Sobrino S; Li J; Lagresle-Peyrou C; Esmaeilzadeh H; Fayand A; Le Floc'h C; Guérin A; Mina ED; Shearer D; Delmonte OM; Yatim A; Mulder K; Mancini M; Rinchai D; Denis A; Neehus AL; Balogh K; Brendle S; Rokni-Zadeh H; Changi-Ashtiani M; Seeleuthner Y; Deswarte C; Bessot B; Cremades C; Materna M; Cederholm A; Ogishi M; Philippot Q; Beganovic O; Ackermann M; Wuyts M; Khan T; Fouéré S; Herms F; Chanal J; Palterer B; Bruneau J; Molina TJ; Leclerc-Mercier S; Prétet JL; Youssefian L; Vahidnezhad H; Parvaneh N; Claeys KG; Schrijvers R; Luka M; Pérot P; Fourgeaud J; Nourrisson C; Poirier P; Jouanguy E; Boisson-Dupuis S; Bustamante J; Notarangelo LD; Christensen N; Landegren N; Abel L; Marr N; Six E; Langlais D; Waterboer T; Ginhoux F; Ma CS; Tangye SG; Meyts I; Lachmann N; Hu J; Shahrooei M; Bossuyt X; Casanova JL; Béziat V, 2024, 'FLT3L governs the development of partially overlapping hematopoietic lineages in humans and mice', Cell, 187, pp. 2817 - 2837.e31, http://dx.doi.org/10.1016/j.cell.2024.04.009
    Journal articles | 2022
    Kermode W; De Santis D; Truong L; Della Mina E; Salman S; Thompson G; Nolan D; Loh R; Mallon D; Mclean-Tooke A; John M; Tangye SG; O'Sullivan M; D'Orsogna LJ, 2022, 'A Novel Targeted Amplicon Next-Generation Sequencing Gene Panel for the Diagnosis of Common Variable Immunodeficiency Has a High Diagnostic Yield: Results from the Perth CVID Cohort Study', Journal of Molecular Diagnostics, 24, pp. 586 - 599, http://dx.doi.org/10.1016/j.jmoldx.2022.02.007
    Journal articles | 2022
    Mina ED; Tangye SG, 2022, 'Atypical Autosomal Recessive AID Deficiency—Yet Another Piece of the Hyper-IgM Puzzle', Journal of Clinical Immunology, 42, pp. 713 - 715, http://dx.doi.org/10.1007/s10875-022-01255-z
    Journal articles | 2021
    Della Mina E; Guérin A; Tangye SG, 2021, 'Molecular requirements for human lymphopoiesis as defined by inborn errors of immunity', Stem Cells, 39, pp. 389 - 402, http://dx.doi.org/10.1002/stem.3327
    Journal articles | 2021
    Lepelley A; Mina ED; van Nieuwenhove E; Waumans L; Fraitag S; Rice GI; Dhir A; Frémond ML; Rodero MP; Seabra L; Carter E; Bodemer C; Buhas D; Callewaert B; de Lonlay P; de Somer L; Dyment DA; Faes F; Grove L; Holden S; Hully M; Kurian MA; McMillan HJ; Suetens K; Tyynismaa H; Chhun S; Wai T; Wouters C; Bader-Meunier B; Crow YJ, 2021, 'Enhanced cGAS-STING–dependent interferon signaling associated with mutations in ATAD3A', Journal of Experimental Medicine, 218, http://dx.doi.org/10.1084/jem.20201560
    Journal articles | 2020
    Uggenti C; Lepelley A; Depp M; Badrock AP; Rodero MP; El-Daher MT; Rice GI; Dhir S; Wheeler AP; Dhir A; Albawardi W; Frémond ML; Seabra L; Doig J; Blair N; Martin-Niclos MJ; Della Mina E; Rubio-Roldán A; García-Pérez JL; Sproul D; Rehwinkel J; Hertzog J; Boland-Auge A; Olaso R; Deleuze JF; Baruteau J; Brochard K; Buckley J; Cavallera V; Cereda C; De Waele LMH; Dobbie A; Doummar D; Elmslie F; Koch-Hogrebe M; Kumar R; Lamb K; Livingston JH; Majumdar A; Lorenço CM; Orcesi S; Peudenier S; Rostasy K; Salmon CA; Scott C; Tonduti D; Touati G; Valente M; van der Linden H; Van Esch H; Vermelle M; Webb K; Jackson AP; Reijns MAM; Gilbert N; Crow YJ, 2020, 'cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing', Nature Genetics, 52, pp. 1364 - 1372, http://dx.doi.org/10.1038/s41588-020-00737-3
    Journal articles | 2018
    Guérin A; Kerner G; Marr N; Markle JG; Fenollar F; Wong N; Boughorbel S; Avery DT; Ma CS; Bougarn S; Bouaziz M; Béziat V; Della Mina E; Oleaga-Quintas C; Lazarov T; Worley L; Nguyen T; Patin E; Deswarte C; Martinez-Barricarte R; Boucherit S; Ayral X; Edouard S; Boisson-Dupuis S; Rattina V; Bigio B; Vogt G; Geissmann F; Quintana-Murci L; Chaussabel D; Tangye SG; Raoult D; Abel L; Bustamante J; Casanova JL, 2018, 'IRF4 haploinsufficiency in a family with Whipple's disease', Elife, 7, http://dx.doi.org/10.7554/eLife.32340
    Journal articles | 2017
    Della Mina E; Borghesi A; Zhou H; Bougarn S; Boughorbel S; Israel L; Meloni I; Chrabieh M; Ling Y; Itan Y; Renieri A; Mazzucchelli I; Basso S; Pavone P; Falsaperla R; Ciccone R; Cerbo RM; Stronati M; Picard C; Zuffardi O; Abel L; Chaussabel D; Marr N; Li X; Casanova J-L; Puel A, 2017, 'Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts', PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 114, pp. E514 - E523, http://dx.doi.org/10.1073/pnas.1620139114
    Journal articles | 2017
    Della Mina E; Rodero MP; Crow YJ, 2017, 'Polymorphisms in IFIH1: the good and the bad', NATURE IMMUNOLOGY, 18, pp. 708 - 709, http://dx.doi.org/10.1038/ni.3765
    Journal articles | 2017
    Israel L; Wang Y; Bulek K; Della Mina E; Zhang Z; Pedergnana V; Chrabieh M; Lemmens NA; Sancho-Shimizu V; Descatoire M; Lasseau T; Israelsson E; Lorenzo L; Yun L; Belkadi A; Moran A; Weisman LE; Vandenesch F; Batteux F; Weller S; Levin M; Herberg J; Abhyankar A; Prando C; Itan Y; van Wamel WJB; Picard C; Abel L; Chaussabel D; Li X; Beutler B; Arkwright PD; Casanova JL; Puel A, 2017, 'Human Adaptive Immunity Rescues an Inborn Error of Innate Immunity', Cell, 168, pp. 789 - 800.e10, http://dx.doi.org/10.1016/j.cell.2017.01.039
    Journal articles | 2017
    Rodero MP; Tesser A; Bartok E; Rice GI; Della Mina E; Depp M; Beitz B; Bondet V; Cagnard N; Duffy D; Dussiot M; Frémond ML; Gattorno M; Guillem F; Kitabayashi N; Porcheray F; Rieux-Laucat F; Seabra L; Uggenti C; Volpi S; Zeef LAH; Alyanakian MA; Beltrand J; Bianco AM; Boddaert N; Brouzes C; Candon S; Caorsi R; Charbit M; Fabre M; Faletra F; Girard M; Harroche A; Hartmann E; Lasne D; Marcuzzi A; Neven B; Nitschke P; Pascreau T; Pastore S; Picard C; Picco P; Piscianz E; Polak M; Quartier P; Rabant M; Stocco G; Taddio A; Uettwiller F; Valencic E; Vozzi D; Hartmann G; Barchet W; Hermine O; Bader-Meunier B; Tommasini A; Crow YJ, 2017, 'Type i interferon-mediated autoinflammation due to DNase II deficiency', Nature Communications, 8, http://dx.doi.org/10.1038/s41467-017-01932-3
    Journal articles | 2016
    Lévy R; Okada S; Béziat V; Moriya K; Liu C; Chai LYA; Migaud M; Hauck F; Al Ali A; Cyrus C; Vatte C; Patiroglu T; Unal E; Ferneiny M; Hyakuna N; Nepesov S; Oleastro M; Ikinciogullari A; Dogu F; Asano T; Ohara O; Yun L; Della Mina E; Bronnimann D; Itan Y; Gothe F; Bustamante J; Boisson-Dupuis S; Tahuil N; Aytekin C; Salhi A; Al Muhsens S; Kobayashi M; Toubiana J; Abel L; Li X; Camcioglu Y; Celmeli F; Klein C; Alkhater SA; Casanova JL; Puel A, 2016, 'Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency', Proceedings of the National Academy of Sciences of the United States of America, 113, pp. E8277 - E8285, http://dx.doi.org/10.1073/pnas.1618300114
    Journal articles | 2015
    Della Mina E; Ciccone R; Brustia F; Bayindir B; Limongelli I; Vetro A; Iascone M; Pezzoli L; Bellazzi R; Perotti G; De Giorgis V; Lunghi S; Coppola G; Orcesi S; Merli P; Savasta S; Veggiotti P; Zuffardi O, 2015, 'Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform', EUROPEAN JOURNAL OF HUMAN GENETICS, 23, pp. 354 - 362, http://dx.doi.org/10.1038/ejhg.2014.92
    Journal articles | 2015
    Vetro A; Iascone M; Limongelli I; Ameziane N; Gana S; Mina ED; Giussani U; Ciccone R; Forlino A; Pezzoli L; Rooimans MA; van Essen AJ; Messa J; Rizzuti T; Bianchi P; Dorsman J; de Winter JP; Lalatta F; Zuffardi O, 2015, 'Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association', HUMAN MUTATION, 36, pp. 562 - 568, http://dx.doi.org/10.1002/humu.22784
    Journal articles | 2014
    Di Fonzo A; Ronchi D; Gallia F; Cribiu FM; Trezzi I; Vetro A; Della Mina E; Limongelli I; Bellazzi R; Ricca I; Micieli G; Fassone E; Rizzuti M; Bordoni A; Fortunato F; Salani S; Mora G; Corti S; Ceroni M; Bosari S; Zuffardi O; Bresolin N; Nobile-Orazio E; Comi GP, 2014, 'Lower motor neuron disease with respiratory failure caused by a novel MAPT mutation', NEUROLOGY, 82, pp. 1990 - 1998, http://dx.doi.org/10.1212/WNL.0000000000000476
    Journal articles | 2013
    Bayindir B; Piazza E; Della Mina E; Limongelli I; Brustia F; Ciccone R; Veggiotti P; Zuffardi O; Dehghani MR, 2013, 'Dravet phenotype in a subject with a der(4)t(4;8)(p16.3;p23.3) without the involvement of the LETM1 gene', European Journal of Medical Genetics, 56, pp. 551 - 555, http://dx.doi.org/10.1016/j.ejmg.2013.08.003
    Journal articles | 2013
    Novara F; Rizzo A; Bedini G; Girgenti V; Esposito S; Pantaleoni C; Ciccone R; Sciacca FL; Achille V; Della Mina E; Gana S; Zuffardi O; Estienne M, 2013, 'MEF2C deletions and mutations versus duplications: A clinical comparison', European Journal of Medical Genetics, 56, pp. 260 - 265, http://dx.doi.org/10.1016/j.ejmg.2013.01.011
    Journal articles | 2012
    Matute E; Inozemtseva O; Aguilar-Lemarroy A; Jave-Suarez LF; Della Mina E; Zuffardi O; Rivera H, 2012, 'Cognitive and Behavioral Phenotype of a Young Man With a Chromosome 13 Deletion del(13)(q21.32q31.1)', COGNITIVE AND BEHAVIORAL NEUROLOGY, 25, pp. 154 - 158, http://dx.doi.org/10.1097/WNN.0b013e31826dfd3c
    Journal articles | 2012
    Savasta S; Merli P; Introzzi F; Strocchio L; Lanati G; Incorpora G; Della Mina E; Simoncelli A; Zuffardi O; Larizza D, 2012, 'Agenesis of internal carotid artery and hypopituitarism: Case report and review of literature', Journal of Clinical Endocrinology and Metabolism, 97, pp. 3414 - 3420, http://dx.doi.org/10.1210/jc.2011-3389
    Journal articles | 2011
    Brunetti-Pierri N; Paciorkowski AR; Ciccone R; Della Mina E; Bonaglia MC; Borgatti R; Schaaf CP; Sutton VR; Xia Z; Jelluma N; Ruivenkamp C; Bertrand M; de Ravel TJL; Jayakar P; Belli S; Rocchetti K; Pantaleoni C; D'Arrigo S; Hughes J; Cheung SW; Zuffardi O; Stankiewicz P, 2011, 'Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment', EUROPEAN JOURNAL OF HUMAN GENETICS, 19, pp. 102 - 107, http://dx.doi.org/10.1038/ejhg.2010.142
    Journal articles | 2011
    Giorda R; Beri S; Bonaglia MC; Spaccini L; Scelsa B; Manolakos E; Della Mina E; Ciccone R; Zuffardi O, 2011, 'Common Structural Features Characterize Interstitial Intrachromosomal Xp and 18q Triplications', AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 155A, pp. 2681 - 2687, http://dx.doi.org/10.1002/ajmg.a.34248
    Journal articles | 2011
    Vetro A; Ciccone R; Giorda R; Patricelli MG; Della Mina E; Forlino A; Zuffardi O, 2011, 'XX males SRY negative: a confirmed cause of infertility', JOURNAL OF MEDICAL GENETICS, 48, pp. 710 - 712, http://dx.doi.org/10.1136/jmedgenet-2011-100036
    Journal articles | 2010
    Sironi F; Trotta L; Antonini A; Zini M; Ciccone R; Della Mina E; Meucci N; Sacilotto G; Primignani P; Brambilla T; Coviello DA; Pezzoli G; Goldwurm S, 2010, 'α-Synuclein multiplication analysis in Italian familial Parkinson disease', Parkinsonism and Related Disorders, 16, pp. 228 - 231, http://dx.doi.org/10.1016/j.parkreldis.2009.09.008
  • Preprints | 2017
    Guérin A; Kerner G; Marr N; Markle J; Fenollar F; Wong N; Boughorbel S; Avery D; Ma C; Bougarn S; Bouaziz M; Beziat V; Della Mina E; Lazarovt T; Worley L; Nguyen T; Patin E; Deswarte C; Martinez-Barricarte R; Boucherit S; Ayral X; Edouard S; Boisson-Dupuis S; Rattina V; Bigio B; Vogt G; Geissmann F; Quintana-Murci L; Chaussabel D; Tangye S; Raoult D; Abel L; Bustamante J; Casanova J-L, 2017, IRF4 haploinsufficiency in a family with Whipple’s disease, http://dx.doi.org/10.1101/197145