By Dr Erika Della Mina

Journal articles

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Guérin A; Kerner G; Marr N; Markle JG; Fenollar F; Wong N; Boughorbel S; Avery DT; Ma CS; 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 SG; 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

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