Higher COVID-19 pneumonia risk associated with anti-IFN-a than with anti-IFN-¿ auto-Abs in children
Journal of Experimental Medicine
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2024

Gain-of-function MARK4 variant associates with pediatric neurodevelopmental disorder and dysmorphism
Human Genetics and Genomics Advances
Samra, S. and Sharma, M. and Vaseghi-Shanjani, M. and Del Bel, K.L. and Byres, L. and Lin, S. and Dalmann, J. and Salman, A. and Mwenifumbo, J. and Modi, B.P. and Biggs, C.M. and Boelman, C. and Clarke, L.A. and Lehman, A. and Turvey, S.E.
DOI: 10.1016/j.xhgg.2023.100259
2024

A multimorphic variant in ThPOK causes a novel human disease characterized by T cell abnormalities, immunodysregulation, allergy, and fibrosis
Medrxiv
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DOI: 10.1101/2024.06.26.24309360
2024

The role of C-reactive protein and ferritin in the diagnosis of HLH, adult-onset still’s disease, and COVID-19 cytokine storm
Scientific Reports
Goubran, M. and Spaner, C. and Stukas, S. and Zoref-Lorenz, A. and Shojania, K. and Beckett, M. and Li, A. and Peterson, E. and Sekhon, M. and Grey, R. and Wellington, C. and Cheng, C.V. and Biggs, C.M. and Mattman, A. and Jordan, M.B. and Chen, L.Y.C. and Setiadi, A.
DOI: 10.1038/s41598-024-82760-6
2024

Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease
Journal of Experimental Medicine
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2023

Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children
Science
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2023

Transcription factor defects in inborn errors of immunity with atopy
Frontiers in Allergy
Vaseghi-Shanjani, M. and Yousefi, P. and Sharma, M. and Samra, S. and Sifuentes, E. and Turvey, S.E. and Biggs, C.M.
DOI: 10.3389/falgy.2023.1237852
2023

Impact of SARS-CoV-2 infection and COVID-19 on patients with inborn errors of immunity
Journal of Allergy and Clinical Immunology
Tangye, S.G. and Abel, L. and Al-Muhsen, S. and Aiuti, A. and Al-Muhsen, S. and Al-Mulla, F. and Anderson, M.S. and Andreakos, E. and Novelli, A. and Arias, A.A. and Feldman, H.B. and Belot, A. and Biggs, C.M. and Bousfiha, A.A. and Brodin, P. and Christodoulou, J. and Condino-Neto, A. and Dalgard, C.L. and Espinosa-Padilla, S. and Fellay, J. and Flores, C. and Franco, J.L. and Froidure, A. and Haerynck, F. and Halwani, R. and Hammarstr{\"o}m, L. and Henrickson, S.E. and Hsieh, E.W.Y. and Itan, Y. and Karamitros, T. and Lau, Y.-L. and Mansouri, D. and Meyts, I. and Mogensen, T.H. and Morio, T. and Ng, L.F.P. and Notarangelo, L.D. and Novelli, G. and Okada, S. and Ozcelik, T. and Pan-Hammarstr{\"o}m, Q. and Perez de Diego, R. and Prando, C. and Pujol, A. and Renia, L. and Resnick, I. and Rodr{\'i}guez-Gallego, C. and Sancho-Shimizu, V. and Sepp{\"a}nen, M.R.J. and Shcherbina, A. and Snow, A.L. and Soler-Palac{\'i}n, P. and Spaan, A.N. and Tancevski, I. and Tayoun, A.A. and Temel, S.G. and Turvey, S.E. and Uddin, M.J. and Vinh, D.C. and Zatz, M. and Okamoto, K. and Pelin, D.S. and Pesole, G. and van de Beek, D. and Colobran, R. and Wauters, J. and Su, H.C. and Casanova, J.-L.
DOI: 10.1016/j.jaci.2022.11.010
2023

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19
Genome Medicine
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DOI: 10.1186/s13073-023-01173-8
2023

Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia
Journal of Experimental Medicine
Garc{\'i}a-Garc{\'i}a, A. and de Diego, R.P. and Flores, C. and Rinchai, D. and Sol{\'e}-Viol{\'a}n, J. and Dey{\`a}-Mart{\'i}nez, ?. and Garc{\'i}a-Solis, B. and Lorenzo-Salazar, J.M. and Hern{\'a}ndez-Brito, E. and Lanz, A.-L. and Moens, L. and Bucciol, G. and Almuqamam, M. and Domachowske, J.B. and Colino, E. and Santos-Perez, J.L. and Marco, F.M. and Pignata, C. and Bousfiha, A. and Turvey, S.E. and Bauer, S. and Haerynck, F. and Ocejo-Vinyals, J.G. and Lendinez, F. and Prader, S. and Naumann-Bartsch, N. and Schmid, J.P. and Biggs, C.M. and Hildebrand, K. and Dreesman, A. and C{\'a}rdenes, M.?. and Ailal, F. and Benhsaien, I. and Giardino, G. and Molina-Fuentes, A. and Fortuny, C. and Madhavarapu, S. and Conway, D.H. and Prando, C. and Schidlowski, L. and de Saavedra {\'a}lvarez, M.T.M. and Alfaro, R. and de Castro, F.R. and Meyts, I. and Hauck, F. and Puel, A. and Bastard, P. and Boisson, B. and Jouanguy, E. and Abel, L. and Cobat, A. and Zhang, Q. and Casanova, J.-L. and Alsina, L. and Rodr{\'i}guez-Gallego, C. and Aiuti, A. and Al-Muhsen, S. and Al-Mulla, F. and Anderson, M.S. and Andreakos, E. and Arias, A.A. and Feldman, H.B. and Belot, A. and Bogunovic, D. and Bolze, A. and Bondarenko, A. and Bousfiha, A.A. and Brodin, P. and Bryceson, Y. and Bustamante, C.D. and Butte, M.J. and Casari, G. and Christodoulou, J. and Condino-Neto, A. and Constantinescu, S.N. and Cooper, M.A. and Dalgard, C.L. and Desai, M. and Drolet, B.A. and Baghdadi, J.E. and Espinosa-Padilla, S. and Fellay, J. and Franco, J.L. and Froidure, A. and Gregersen, P.K. and Grimbacher, B. and Hagin, D. and Halwani, R. and Hammarstr{\"o}m, L. and Heath, J.R. and Henrickson, S.E. and Hsieh, E.W.Y. and Husebye, E. and Imai, K. and Itan, Y. and Jarvis, E.D. and Karamitros, T. and Kisand, K. and Ku, C.-L. and Lau, Y.-L. and Ling, Y. and Lucas, C.L. and Maniatis, T. and Mansouri, D. and Mar{\'o}di, L. and Milner, J.D. and Mironska, K. and Mogensen, T.H. and Morio, T. and Ng, L.F.P. and Notarangelo, L.D. and Novelli, A. and Novelli, G. and O{'}farrelly, C. and Okada, S. and Okamoto, K. and Ozcelik, T. and Pan-Hammarstr{\"o}m, Q. and Pape, J.W. and Perlin, D.S. and Pesole, G. and Planas, A.M. and Pujol, A. and Quintana-Murci, L. and Ramaswamy, S. and Renia, L. and Resnick, I. and Sancho-Shimizu, V. and Sediva, A. and Sepp{\"a}nen, M.R.J. and Shahrooei, M. and Shcherbina, A. and Slaby, O. and Snow, A.L. and Soler-Palac{\'i}n, P. and Spaan, A.N. and Tancevski, I. and Tangye, S.G. and Tayoun, A.A. and Uddin, K.M.F. and Uddin, M.J. and van de Beek, D. and Vinh, D.C. and von Bernuth, H. and Wauters, J. and Zatz, M. and Zawadzki, P. and Su, H.C. and Kindle, G. and Mahlaoui, N. and Seidel, M.G. and Vassilios, L.
DOI: 10.1084/jem.20220170
2023

Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay
Journal of Medical Genetics
Mohajeri, A. and Vaseghi-Shanjani, M. and Rosenfeld, J.A. and Yang, G.X. and Lu, H. and Sharma, M. and Lin, S. and Salman, A. and Waqas, M. and Sababi Azamian, M. and Worley, K.C. and Del Bel, K.L. and Kozak, F.K. and Rahmanian, R. and Biggs, C.M. and Hildebrand, K.J. and Lalani, S.R. and Nicholas, S.K. and Scott, D.A. and Mostafavi, S. and Van Karnebeek, C. and Henkelman, E. and Halparin, J. and Yang, C.L. and Armstrong, L. and Turvey, S.E. and Lehman, A.
DOI: 10.1136/jmg-2022-109127
2023

A multimorphic mutation in IRF4 causes human autosomal dominant combined immunodeficiency
Science Immunology
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DOI: 10.1126/sciimmunol.ade7953
2023

Lack of association between HLA and asymptomatic SARS-CoV-2 infection
Medrxiv
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2023

Immunoglobulin, glucocorticoid, or combination therapy for multisystem inflammatory syndrome in children: a propensity-weighted cohort study
Lancet Rheumatology
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DOI: 10.1016/S2665-9913(23)00029-2
2023

Homozygous RMRP Promoter Duplications Cause Severely Reduced Transcript Abundance and SCID Associated with Cartilage Hair Hypoplasia
Journal of Clinical Immunology
Tan, R. and Lu, H.Y. and Sharma, M. and Sandhu, H. and Harris, K.C. and Cameron, S.B. and Setiadi, A. and Hildebrand, K.J. and Rozmus, J. and Turvey, S.E. and Biggs, C.M.
DOI: 10.1007/s10875-023-01489-5
2023

A second update on mapping the human genetic architecture of COVID-19
Nature
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2023

Vaccine breakthrough hypoxemic COVID-19 pneumonia in patients with auto-Abs neutralizing type I IFNs
Science Immunology
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2023

Inherited and acquired errors of type I interferon immunity govern susceptibility to COVID-19 and multisystem inflammatory syndrome in children
Journal of Allergy and Clinical Immunology
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2023

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The Journal of experimental medicine
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06/2022

Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia.
The Journal of experimental medicine
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06/2022

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Paediatrics and Child Health Canada
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2022

HostSeq: A Canadian Whole Genome Sequencing and Clinical Data Resource
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2022

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Nature Immunology
Andreakos, E. and Abel, L. and Vinh, D.C. and Kaja, E. and Drolet, B.A. and Zhang, Q. and O?Farrelly, C. and Novelli, G. and Rodr{\'i}guez-Gallego, C. and Haerynck, F. and Prando, C. and Pujol, A. and Bastard, P. and Biggs, C.M. and Bigio, B. and Boisson, B. and Bolze, A. and Bondarenko, A. and Brodin, P. and Chakravorty, S. and Christodoulou, J. and Cobat, A. and Condino-Neto, A. and Constantinescu, S.N. and Feldman, H.B. and Fellay, J. and Halwani, R. and Jouanguy, E. and Lau, Y.-L. and Meyts, I. and Mogensen, T.H. and Okada, S. and Okamoto, K. and Ozcelik, T. and Pan-Hammarstr{\"o}m, Q. and Planas, A.M. and Puel, A. and Quintana-Murci, L. and Renia, L. and Resnick, I. and Sediva, A. and Shcherbina, A. and Slaby, O. and Tancevski, I. and Turvey, S.E. and Uddin, K.M.F. and van de Beek, D. and Zatz, M. and Zawadzki, P. and Zhang, S.-Y. and Su, H.C. and Casanova, J.-L. and Spaan, A.N.
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2022

A global effort to dissect the human genetic basis of resistance to SARS-CoV-2 infection
Nature Immunology
Andreakos, E. and Abel, L. and Vinh, D.C. and Kaja, E. and Drolet, B.A. and Zhang, Q. and O?Farrelly, C. and Novelli, G. and Rodr{\'i}guez-Gallego, C. and Haerynck, F. and Prando, C. and Pujol, A. and Bastard, P. and Biggs, C.M. and Bigio, B. and Boisson, B. and Bolze, A. and Bondarenko, A. and Brodin, P. and Chakravorty, S. and Christodoulou, J. and Cobat, A. and Condino-Neto, A. and Constantinescu, S.N. and Feldman, H.B. and Fellay, J. and Flores, C. and Halwani, R. and Jouanguy, E. and Lau, Y.-L. and Meyts, I. and Mogensen, T.H. and Okada, S. and Okamoto, K. and Ozcelik, T. and Pan-Hammarstr{\"o}m, Q. and Diego, R.P. and Planas, A.M. and Puel, A. and Quintana-Murci, L. and Renia, L. and Resnick, I. and Sediva, A. and Shcherbina, A. and Slaby, O. and Tancevski, I. and Turvey, S.E. and Uddin, K.M.F. and van de Beek, D. and Zatz, M. and Zawadzki, P. and Zhang, S.-Y. and Su, H.C. and Casanova, J.-L. and Spaan, A.N.
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2022

Atopy as Immune Dysregulation: Offender Genes and Targets
Journal of Allergy and Clinical Immunology in Practice
Vaseghi-Shanjani, M. and Snow, A.L. and Margolis, D.J. and Latrous, M. and Milner, J.D. and Turvey, S.E. and Biggs, C.M.
DOI: 10.1016/j.jaip.2022.04.001
2022

Studying severe long COVID to understand post-infectious disorders beyond COVID-19
Nature Medicine
Brodin, P. and Casari, G. and Townsend, L. and O?Farrelly, C. and Tancevski, I. and L{\"o}ffler-Ragg, J. and Mogensen, T.H. and Casanova, J.L. and Abel, L. and Aiuti, A. and Al-Muhsen, S. and Al-Mulla, F. and Anderson, M.S. and Andreakos, E. and Arias, A.A. and Feldman, H.B. and Belot, A. and Biggs, C.M. and Bogunovic, D. and Bolze, A. and Bondarenko, A. and Bousfiha, A.A. and Bryceson, Y. and Bustamante, C.D. and Butte, M.J. and Christodoulou, J. and Condino-Neto, A. and Constantinescu, S.N. and Cooper, M.A. and Dalgard, C.L. and Desai, M. and Drolet, B.A. and Baghdadi, J.E. and Espinosa-Padilla, S. and Fellay, J. and Flores, C. and Franco, J.L. and Froidure, A. and Gregersen, P.K. and Grimbacher, B. and Haerynck, F. and Hagin, D. and Halwani, R. and Hammarstr{\"o}m, L. and Heath, J.R. and Henrickson, S.E. and Hsieh, E.W.Y. and Husebye, E. and Imai, K. and Itan, Y. and Jarvis, E.D. and Karamitros, T. and Kisand, K. and Ku, C.-L. and Lau, Y.-L. and Ling, Y. and Lucas, C.L. and Maniatis, T. and Mansouri, D. and Mar{\'o}di, L. and Meyts, I. and Milner, J.D. and Mironska, K. and Morio, T. and Ng, L.F.P. and Novelli, A. and Novelli, G. and Okada, S. and Okamoto, K. and Ozcelik, T. and Pan-Hammarstr{\"o}m, Q. and Pape, J.W. and de Diego, R.P. and Perlin, D.S. and Pesole, G. and Planas, A.M. and Prando, C. and Pujol, A. and Quintana-Murci, L. and Ramaswamy, S. and Renia, L. and Resnick, I. and Rodr{\'i}guez-Gallego, C. and Sancho-Shimizu, V. and Sediva, A. and Sepp{\"a}nen, M.R.J. and Shahrooei, M. and Shcherbina, A. and Slaby, O. and Snow, A.L. and Soler-Palac{\'i}n, P. and Spaan, A.N. and Tangye, S.G. and Tayoun, A.A. and Turvey, S.E. and Uddin, K.M.F. and Uddin, M.J. and van de Beek, D. and Vinh, D.C. and von Bernuth, H. and Wauters, J. and Zatz, M. and Zawadzki, P.
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2022

Sensory Neurons Promote Immune Homeostasis in the Lung
Ssrn
Tamari, M. and Del Bel, K.L. and Ver Heul, A.M. and Zamidar, L. and Orimo, K. and Hoshi, M. and Trier, A.M. and Yang, T.-L. and Biggs, C.M. and Damle, G. and Demircioglu, D. and Hasson, D. and Dai, J. and Morita, H. and Matsumoto, K. and Jain, S. and Van Dyken, S. and Milner, J.D. and Bogunovic, D. and Hu, H. and Artis, D. and Turvey, S.E. and Kim, B.S.
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2022

Inborn Errors of Immunity Associated With Type 2 Inflammation in the USIDNET Registry
Frontiers in Immunology
Smith, K.L. and Dai, D. and Modi, B.P. and Sara, R. and Garabedian, E. and Marsh, R.A. and Puck, J. and Secord, E. and Sullivan, K.E. and Turvey, S.E. and Biggs, C.M.
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2022

The risk of COVID-19 death is much greater and age-dependent with type I IFN autoantibodies
Research Square
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2022

The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies
Proceedings of the National Academy of Sciences of the United States of America
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2022

Targeted treatment of immune thrombocytopenia in CTLA-4 insufficiency: a case report
British Journal of Haematology
Lai, C.M.B. and Setiadi, A. and Barlas, A. and Kanani, A. and Pourshahnazari, P. and Leitch, H.A. and Metzger, D.L. and Merkeley, H. and Biggs, C.M.
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2022

Decoding the Human Genetic and Immunological Basis of COVID-19 mRNA Vaccine-Induced Myocarditis
Journal of Clinical Immunology
Bolze, A. and Mogensen, T.H. and Zhang, S.-Y. and Abel, L. and Andreakos, E. and Arkin, L.M. and Borghesi, A. and Brodin, P. and Hagin, D. and Novelli, G. and Okada, S. and Peter, J. and Renia, L. and Severe, K. and Tiberghien, P. and Vinh, D.C. and Aiuti, A. and Al-Muhsen, S. and Al-Mulla, F. and Amara, A. and Anderson, M.S. and Arias, A.A. and Feldman, H.B. and Bastard, P. and Belot, A. and Biggs, C.M. and Bogunovic, D. and Bousfiha, A.A. and Butte, M.J. and Christodoulou, J. and Cobat, A. and Colobran, R. and Condino-Neto, A. and Constantinescu, S.N. and Dalgard, C.L. and Duval, X. and Eloy, P. and Espinosa-Padilla, S. and Fellay, J. and Flores, C. and Franco, J.L. and Froidure, A. and Gorochov, G. and Gregersen, P.K. and Haerynck, F. and Halwani, R. and Hammarstr{\"o}m, L. and Itan, Y. and Jouanguy, E. and Karamitros, T. and Lau, Y.-L. and Mansouri, D. and Mentre, F. and Meyts, I. and Mironska, K. and Morio, T. and Ng, L.F.P. and Novelli, A. and O?Farrelly, C. and Okamoto, K. and Ozcelik, T. and Pan-Hammarstr{\"o}m, Q. and de Diego, R.P. and Perez-Tur, J. and Perlin, D.S. and Pesole, G. and Planas, A.M. and Prando, C. and Pujol, A. and Quintana-Murci, L. and Resnick, I. and Rodr{\'i}guez-Gallego, C. and Sancho-Shimizu, V. and Sediva, A. and Sepp{\"a}nen, M.R.J. and Shahrooei, M. and Shcherbina, A. and Slaby, O. and Soler-Palac{\'i}n, P. and Soumelis, V. and Spaan, A.N. and Tancevski, I. and Tangye, S.G. and Tayoun, A.A. and Temel, ?.G. and Thorball, C. and Trouillet-Assant, S. and Turvey, S.E. and Uddin, K.M.F. and van de Beek, D. and von Bernuth, H. and Zhang, Q. and Cirulli, E.T. and Casanova, J.-L. and Hsieh, E.W.Y.
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2022

All hands on deck: A multidisciplinary approach to SARS-CoV-2-associated MIS-C,Tout le monde sur le pont: une approche multidisciplinaire du SRAS-CoV-2 associe au SIME
Paediatrics and Child Health Canada
Lopez, A.A. and Patel, M. and Rayment, J.H. and Tam, H. and Roberts, A. and Laskin, S. and Ahmed, M.A. and Barakauskas, V. and Galanis, E. and Goldfarb, D. and Halparin, J. and Harris, K.C. and Kissoon, N. and Lawrence, S. and Mcguffin, D. and Meckler, G. and Noel, K. and Schrader, D. and Sherwood, M. and Singh, A. and Vercauteren, S. and Tucker, L. and Biggs, C.M.
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2022

Human JAK1 gain of function causes dysregulated myelopoeisis and severe allergic inflammation
Jci Insight
Biggs, C.M. and Cordeiro-Santanach, A. and Prykhozhij, S.V. and Deveau, A.P. and Lin, Y. and Del Bel, K.L. and Orben, F. and Ragotte, R.J. and Saferali, A. and Mostafavi, S. and Dinh, L. and Dai, D. and Weinacht, K.G. and Dobbs, K. and de Bruin, L.O. and Sharma, M. and Tsai, K. and Priatel, J.J. and Schreiber, R.A. and Rozmus, J. and Hosking, M.C.K. and Shopsowitz, K.E. and McKinnon, M.L. and Vercauteren, S. and Seear, M. and Notarangelo, L.D. and Lynn, F.C. and Berman, J.N. and Turvey, S.E.
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2022

Human genetic and immunological determinants of critical COVID-19 pneumonia
Nature
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2022

Reduced fixed dose tocilizumab 400 mg IV compared to weight-based dosing in critically ill patients with COVID-19: A before-after cohort study
Lancet Regional Health Americas
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2022

Exome sequencing enables diagnosis of X-linked hypohidrotic ectodermal dysplasia in patient with eosinophilic esophagitis and severe atopy
Allergy, Asthma & Clinical Immunology
Bhavi P. Modi and Kate L. Del Bel and Susan Lin and Mehul Sharma and Phillip A. Richmond and Clara D. M. van Karnebeek and Edmond S. Chan and Vishal Avinashi and Wingfield E. Rehmus and Catherine M. Biggs and Wyeth W. Wasserman and Stuart E. Turvey
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12/2021

Diverse clinical features and diagnostic delay in monogenic inborn errors of immunity: A call for access to genetic testing
Pediatric Allergy and Immunology
Anna Branch and Bhavi Modi and Bahar Bahrani and Kyla J. Hildebrand and Scott B. Cameron and Anne K. Junker and Stuart E. Turvey and Catherine M. Biggs
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11/2021

Treatment of Multisystem Inflammatory Syndrome in Children.
The New England journal of medicine
DOI: 10.1056/nejmoa2102968
PubMed: 34133854
06/2021

SARS-CoV-2–related MIS-C: A key to the viral and genetic causes of Kawasaki disease?
Journal of Experimental Medicine
Vanessa Sancho-Shimizu and Petter Brodin and Aurélie Cobat and Catherine M. Biggs and Julie Toubiana and Carrie L. Lucas and Sarah E. Henrickson and Alexandre Belot and Elie Haddad and Kathie Beland and Aurora Pujol and Agatha Schlüter and Laura Planas-Serra and Sergio Aguilera-Albesa and Juan Valencia-Ramos and Agustí Rodríguez-Palmero and Marta Gut and Jacques G. Rivière and Roger Colobran and Pere Soler-Palacin and Carlos Rodriguez-Gallego and Rebeca Perez De Diego and Carlos Flores and Laia Alsina and Daniel Blazquez-Gamero and Iolanda Jordan and Sevgi Keles and Melike Emiroglu and Ozge Metin Akcan and Gulsum Alkan and Selma Erol Aytekin and Yahya Gul and Sadiye Kübra Tüter Öz and Sefika Elmas Bozdemir and Gulsum Iclal Bayhan and Saliha Kanik-Yüksek and Aslinur Özkaya Parlakay and Belgin Gülhan and Aysun Yahsi and Ahmet Osman Kilic and Adem Karbuz and Emine Hafize Erdeniz and Esra Akyüz Özkan and Zerrin Orbak and Sehnaz Aydemir and Jale Bengi Celik and Bahar Kandemir and Gökhan Ayt
DOI: 10.1084/jem.20210446
06/2021

Soluble interleukin-6 receptor in the COVID-19 cytokine storm syndrome.
Cell reports. Medicine
DOI: 10.1016/j.xcrm.2021.100269
PubMed: 33899032
04/2021

Ruxolitinib as adjunctive therapy for secondary hemophagocytic lymphohistiocytosis: a case series.
European journal of haematology
DOI: 10.1111/ejh.13593
PubMed: 33523540
02/2021

Idiopathic splenomegaly in childhood and the spectrum of RAS-associated lymphoproliferative disease: a case report.
BMC pediatrics
DOI: 10.1186/s12887-021-02508-3
PubMed: 33472608
01/2021

X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19
Science Immunology
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DOI: 10.1126/sciimmunol.abl4348
2021

Inborn errors of immunity manifesting as atopic disorders
Journal of Allergy and Clinical Immunology
Vaseghi-Shanjani, M. and Smith, K.L. and Sara, R.J. and Modi, B.P. and Branch, A. and Sharma, M. and Lu, H.Y. and James, E.L. and Hildebrand, K.J. and Biggs, C.M. and Turvey, S.E.
DOI: 10.1016/j.jaci.2021.08.008
2021

Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths
Science Immunology
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TIR Signaling Pathway Deficiency, MyD88 Deficiency
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Chronic Mucocutaneous Candidiasis, STAT1 Gain of Function
Encyclopedia of Medical Immunology Immunodeficiency Diseases
Biggs, C.M. and Turvey, S.E.
DOI: 10.1007/978-1-4614-8678-7_62
2020

TIR Signaling Pathway Deficiency, IRAK-4 Deficiency
Encyclopedia of Medical Immunology Immunodeficiency Diseases
Biggs, C.M. and Turvey, S.E.
DOI: 10.1007/978-1-4614-8678-7_46
2020

Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis.
American journal of human genetics
DOI: 10.1016/j.ajhg.2019.07.014
PubMed: 31447097
08/2019

Germline CBM-opathies: From immunodeficiency to atopy.
The Journal of allergy and clinical immunology
DOI: 10.1016/j.jaci.2019.03.009
PubMed: 31060714
05/2019

Calm in the midst of cytokine storm: a collaborative approach to the diagnosis and treatment of hemophagocytic lymphohistiocytosis and macrophage activation syndrome.
Pediatric rheumatology online journal
DOI: 10.1186/s12969-019-0309-6
PubMed: 30764840
02/2019

Extended analysis of parent and child confidence in recognizing anaphylaxis and using the epinephrine autoinjector during oral food challenges.
The journal of allergy and clinical immunology. In practice
Soller L and Teoh T and Baerg I and Wong T and Hildebrand KJ and Cook VE and Biggs CM and Lee N and Yaworski L and Cameron SB and Chan ES
DOI: 10.1016/j.jaip.2018.09.025
PubMed: 30292923
10/2018

De novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome.
Molecular genetics and metabolism reports
Torres A and Brownstein CA and Tembulkar SK and Graber K and Genetti C and Kleiman RJ and Sweadner KJ and Mavros C and Liu KX and Smedemark-Margulies N and Maski K and Yang E and Gonzalez-Heydrich J
DOI: 10.1016/j.ymgmr.2018.06.001
PubMed: 29922587
06/2018

The importance of functional validation after next-generation sequencing: evaluation of a novel CARD11 variant.
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology
Lu HY and Sharma M and Biggs CM and Huang YH and Shopsowitz KE and Frosk P and Priatel JJ and Rubin TS and Turvey SE
DOI: 10.1111/pai.12930
PubMed: 29808493
06/2018

Newborn screening for severe combined immunodeficiency: a primer for clinicians.
CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne
Biggs CM and Haddad E and Issekutz TB and Roifman CM and Turvey SE
DOI: 10.1503/cmaj.170561
PubMed: 29255099
12/2017

Monogenic immune disorders and severe atopic disease.
Nature genetics
Biggs CM and Lu HY and Turvey SE
DOI: 10.1038/ng.3925
PubMed: 28747751
07/2017

DOCK8 deficiency: Insights into pathophysiology, clinical features and management.
Clinical immunology (Orlando, Fla.)
Biggs CM and Keles S and Chatila TA
DOI: 10.1016/j.clim.2017.06.003
PubMed: 28625885
06/2017

Diverse Autoantibody Reactivity in Cartilage-Hair Hypoplasia.
Journal of clinical immunology
Biggs CM and Kostjukovits S and Dobbs K and Laakso S and Klemetti P and Valta H and Taskinen M and Mäkitie O and Notarangelo LD
DOI: 10.1007/s10875-017-0408-4
PubMed: 28631025
06/2017

First Case of X-Linked Moesin Deficiency Identified After Newborn Screening for SCID.
Journal of clinical immunology
Delmonte OM and Biggs CM and Hayward A and Comeau AM and Kuehn HS and Rosenzweig SD and Notarangelo LD
DOI: 10.1007/s10875-017-0391-9
PubMed: 28378256
04/2017

Pre-diagnostic genotyping identifies T1D subjects with impaired Treg IL-2 signaling and an elevated proportion of FOXP3+IL-17+ cells.
Genes and immunity
Marwaha AK and Panagiotopoulos C and Biggs CM and Staiger S and Del Bel KL and Hirschfeld AF and Priatel JJ and Turvey SE and Tan R
DOI: 10.1038/gene.2016.44
PubMed: 28053319
01/2017

Hematopoietic stem cell transplantation outcomes for 11 patients with dedicator of cytokinesis 8 deficiency.
The Journal of allergy and clinical immunology
Al-Herz W and Chu JI and van der Spek J and Raghupathy R and Massaad MJ and Keles S and Biggs CM and Cockerton L and Chou J and Dbaibo G and Elisofon SA and Hanna-Wakim R and Kim HB and Pai SY
DOI: 10.1016/j.jaci.2016.02.022
PubMed: 27130861
04/2016

Looking back at the diagnosis of PFAPA: a retrospecitve analysis of a prospective cohort study.
Pediatric rheumatology online journal
Hausmann J and Biggs C and Dedeoglu F
DOI: 10.1186/1546-0096-13-s1-p49
09/2015

Studying patients with autoinflammatory diseases: the past, present, and a perspective for the future.
Pediatric rheumatology online journal
Hausmann J and Biggs C and Goldsmith D and Dedeoglu F
DOI: 10.1186/1546-0096-13-s1-p187
09/2015

P02-004 - AIDs in a registry of children in North America.
Pediatric rheumatology online journal
Hausmann J and Biggs C and Goldsmith D and Dedeoglu F
DOI: 10.1186/1546-0096-11-s1-a111
11/2013

PW02-004 - Autoinflammatory syndromes: a clinical review.
Pediatric rheumatology online journal
Biggs C and Hausmann J and Kim S and Janssen E and Nigrovic P and Fuhlbrigge R and Sundel R and Dedeoglu F
DOI: 10.1186/1546-0096-11-s1-a144
11/2013

Innate immune control of EBV-infected B cells by invariant natural killer T cells.
Blood
Chung BK and Tsai K and Allan LL and Zheng DJ and Nie JC and Biggs CM and Hasan MR and Kozak FK and van den Elzen P and Priatel JJ and Tan R
DOI: 10.1182/blood-2013-01-480665
PubMed: 23974196
08/2013

Inactivation of mammalian target of rapamycin increases STAT1 nuclear content and transcriptional activity in alpha4- and protein phosphatase 2A-dependent fashion.
The Journal of biological chemistry
Fielhaber JA and Han YS and Tan J and Xing S and Biggs CM and Joung KB and Kristof AS
DOI: 10.1074/jbc.M109.033530
PubMed: 19553685
06/2009