Meet the team

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Dr. Andres Caballerowww icon

Project lead, biocurator & developer

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Dr. Laura Crisponiwww icon

Geneticist, biocurator

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Dr. Xiao Pengwww icon

Geneticist, biocurator

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Prof. Michele Proiettiwww icon

Project lead & supervisor

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Contributors and curators

Person Lab/Group Center/Deptartment Institution City Country Inspected Refs. Reviewed Refs. Edited genes Edited vars. Edited conditions
Michele Proietti Proietti's lab (Genetics of Immundysregulation) Clinic for Rheumatology and Immunology Hannover Medical School Hanover Germany 6 0 6 13 0
Andrés Caballero-Oteyza Proietti's lab (Genetics of Immundysregulation) Clinic for Rheumatology and Immunology Hannover Medical School Hanover Germany 137 145 239 1169 212
Laura Gámez-Díaz Genetic basis of immunodeficiency (Grimbacher lab) Centre for Chronic Immunodeficiency University Hospital Freiburg Freiburg im Breisgau Germany 0 0 1 0 0
Hanna Haberstroh Genetic basis of immunodeficiency (Grimbacher lab) Centre for Chronic Immunodeficiency University Hospital Freiburg Freiburg im Breisgau Germany 0 0 10 9 0
Elena Sindram Genetic basis of immunodeficiency (Grimbacher lab) Centre for Chronic Immunodeficiency University Hospital Freiburg Freiburg im Breisgau Germany 0 0 1 0 0
Jessica Lineth Rojas Restrepo Genetic basis of immunodeficiency (Grimbacher lab) Centre for Chronic Immunodeficiency University Hospital Freiburg Freiburg im Breisgau Germany 0 0 13 143 0
Tiziana Lorenzini Pachlopnik Lab Psychiatric Hospital of the University of Zurich University Hospital Zürich Zürich Switzerland 2 0 0 0 0
Nermeen Galal Pediatric Immunology Laboratory - Primary Immunodeficiency Unit Faculty Of Medicine Kasr Al-Ainy Cairo University Specialized Pediatric Hospitals (CUSPH) Cairo Egypt 2 0 0 0 0
Xiao P. Peng Inborn Errors of Immunity Clinic Johns Hopkins Department of Genetic Medicine JOHN HOPKINS Medicine Baltimore U.S.A. 0 0 195 77 37
David Willi Fuchs Proietti's lab (Genetics of Immundysregulation) Clinic for Rheumatology and Immunology Hannover Medical School Hanover Germany 7 2 1 6 0
Nele Viehmann Genetic basis of immunodeficiency (Grimbacher lab) Centre for Chronic Immunodeficiency University Hospital Freiburg Freiburg im Breisgau Germany 0 0 1 13 0
Laura Crisponi Laboratory for rare diseases Institute for Genetic and Biomedical Research (IRGB) National Research Council of Italy Monserrato (Cagliari) Italy 87 24 9 167 1
Virginia Andreani Genetic basis of immunodeficiency (Grimbacher lab) Centre for Chronic Immunodeficiency University Hospital Freiburg Freiburg im Breisgau Germany 0 0 1 0 0
Gigliola Di Matteo Laboratorio Immunologia Pediatrica Department of System Medicine University of Rome Tor Vergata Rome Italy 0 1 0 0 0
Julia Silva Genetic basis of immunodeficiency (Grimbacher lab) Centre for Chronic Immunodeficiency University Hospital Freiburg Freiburg im Breisgau Germany 21 0 0 0 0
Sophia Marie Heimann Genetic basis of immunodeficiency (Grimbacher lab) Centre for Chronic Immunodeficiency University Hospital Freiburg Freiburg im Breisgau Germany 57 0 0 0 0
Laura Batlle Maso Paediatric Infectious Diseases and Immunodeficiencies Unit Vall d'Hebron Hospital Vall D'Hebron Barcelona Spain 1 0 0 1 0
Giulio Tessarin V. Lougaris lab Institute for Molecular Medicine Angelo Nocivelli University of Brescia Brescia Italy 3 0 0 3 0
Daniel Mayr Molecular and Clinical Immunology (Boztug lab) Ludwig Boltzmann Institue for Rare and Undiagnosed Diseases (LBI-RUD) Ludwig Boltzmann Society Vienna Austria 1 0 0 0 0
Jorrell Rush-Kittle Genetic basis of immunodeficiency (Grimbacher lab) Centre for Chronic Immunodeficiency University Hospital Freiburg Freiburg im Breisgau Germany 35 0 0 0 0
Mahnaz Jamee Laboratory for Pediatric Immunology Willem-Alexander Children's Hospital Leiden University Medical Centre (LUMC) Leiden Netherlands 2 0 0 0 0
Farnaz Kamali 3 0 0 0 0
Parsa Alizadeh 0 0 1 0 1
Puria AliGol 1 0 0 0 0
Cristina Cifaldi Laboratorio Immunologia Pediatrica Department of System Medicine University of Rome Tor Vergata Rome Italy 2 0 0 2 0
Ernestina Angarola Internal medicine / Immunology dept. Italian Hospital Central Location Italian Hospital of Buenos Aires Buenos Aires Argentina 2 0 0 0 0

Other collaborators & contributors

Alexandra Freeman
Bodo Grimbacher
Cristina Gloecker
Elena Sindram
Faranaz Atschekzei

Gasper Markelj
Hassan Abolhassani
Ivona Aksentijevich
Jana Pachlopnik
Kaan Botzug

Manfred Fliegauf
Mate Krausz
Mikko Seppanen
Laura Gamez
Oliver Bartsch

Roger Colobran
Taco Kuijpers
Samantha Chan
Stefano Giardini
Stefano Volpi

Our mission

This resource intends to catalog all the research literature on the genetic basis of Inborn Errors of Immunity in a structured manner, and to summarize the genetic paradigms that we have learnt from our patients. We try to collect all clinical, lab and functional data reported on patients diagnosed with IEI.

By linking genetic and functional mechanisms to disease- and/or locus-specific considerations, we hope to provide a practical guide for providers that may help them strategize when performing genetic testing, interpreting genetic test results and/or providing genetic counseling.

Why GenIA?

It is becoming increasingly challenging to keep up with the ever-expanding gene space of inborn errors of immunity (IEIs) and the genetic paradigms these are introducing or reinforcing. With the monogenic IEIs, even very robust and highly suggestive clinical phenotypes may be associated with negative or equivocal clinical genetic testing. In these situations, we often find ourselves asking the question: "It is hiding in plain sight? Is it not there or did we just not find it?". Thus, a negative genetic testing report is often just the beginning of an iterative diagnostic process.

Some of the reasons we may fail to detect a disease-causing change are inherent to the limitations of current technology, while others may be knowledge-based. In terms of the latter, we have limited control over the pace at which new variants, genes and disorders are discovered. It is always gratifying when an IEI patient is able access and be brought to medical attention, receive molecular diagnosis, and then have their story shared with the greater biomedical community. However, there are likely many more individuals out there we may never meet or learn from.

Consulting service

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