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1. COVID-19 Vaccination in Patients with Inborn Errors of Immunity Reduces Hospitalization and Critical Care Needs Related to COVID-19: a USIDNET Report.

Author

McDonnell, John, Cousins, Kimberley, Younger, M, Lane, Adam, Abolhassani, Hassan, Abraham, Roshini, Al-Tamemi, Salem, Aldave-Becerra, Juan, Al-Faris, Eman, Alfaro-Murillo, Alberto, AlKhater, Suzan, Alsaati, Nouf, Doss, Alexa, Anderson, Melissa, Angarola, Ernestina, Ariue, Barbara, Arnold, Danielle, Assaad, Amal, Aytekin, Caner, Bank, Meaghan, Bergerson, Jenna, Bleesing, Jack, Boesing, John, Bouso, Carolina, Brodszki, Nicholas, Cabanillas, Diana, Cady, Carol, Callahan, Meghan, Caorsi, Roberta, Carbone, Javier, Carrabba, Maria, Castagnoli, Riccardo, Catanzaro, Jason, Chan, Samantha, Chandra, Sharat, Chapdelaine, Hugo, Chavoshzadeh, Zahra, Chong, Hey, Connors, Lori, Consonni, Filippo, Correa-Jimenez, Oscar, Cunningham-Rundles, Charlotte, DAstous-Gauthier, Katherine, Delmonte, Ottavia, Demirdag, Yesim, Deshpande, Deepti, Diaz-Cabrera, Natalie, Dimitriades, Victoria, El-Owaidy, Rasha, ElGhazali, Gehad, Al-Hammadi, Suleiman, Fabio, Giovanna, Faure, Astrid, Feng, Jin, Fernandez, James, Fill, Lauren, Franco, Guacira, Frenck, Robert, Fuleihan, Ramsay, Giardino, Giuliana, Galant-Swafford, Jessica, Gambineri, Eleonora, Garabedian, Elizabeth, Geerlinks, Ashley, Goudouris, Ekaterini, Grecco, Octavio, Pan-Hammarström, Qiang, Khani, Hedieh, Hammarström, Lennart, Hartog, Nicholas, Heimall, Jennifer, Hernandez-Molina, Gabriela, Horner, Caroline, Hostoffer, Robert, Hristova, Nataliya, Hsiao, Kuang-Chih, Ivankovich-Escoto, Gabriela, Jaber, Faris, Jalil, Maaz, Jamee, Mahnaz, Jean, Tiffany, Jeong, Stephanie, Jhaveri, Devi, Jordan, Michael, Joshi, Avni, Kalkat, Amanpreet, Kanarek, Henry, Kellner, Erinn, Khojah, Amer, Khoury, Ruby, Kokron, Cristina, Kumar, Ashish, Lecerf, Kelsey, Lehman, Heather, Leiding, Jennifer, Lesmana, Harry, Lim, Xin, Lopes, Joao, López, Ana, and Tarquini, Lucia

Subjects
Immunization, Immunodeficiency, Outcomes, Viruses: respiratory diseases
Abstract

BACKGROUND: The CDC and ACIP recommend COVID-19 vaccination for patients with inborn errors of immunity (IEI). Not much is known about vaccine safety in IEI, and whether vaccination attenuates infection severity in IEI. OBJECTIVE: To estimate COVID-19 vaccination safety and examine effect on outcomes in patients with IEI. METHODS: We built a secure registry database in conjunction with the US Immunodeficiency Network to examine vaccination frequency and indicators of safety and effectiveness in IEI patients. The registry opened on January 1, 2022, and closed on August 19, 2022. RESULTS: Physicians entered data on 1245 patients from 24 countries. The most common diagnoses were antibody deficiencies (63.7%). At least one COVID-19 vaccine was administered to 806 patients (64.7%), and 216 patients received vaccination prior to the development of COVID-19. The most common vaccines administered were mRNA-based (84.0%). Seventeen patients were reported to seek outpatient clinic or emergency room care for a vaccine-related complication, and one patient was hospitalized for symptomatic anemia. Eight hundred twenty-three patients (66.1%) experienced COVID-19 infection. Of these, 156 patients required hospitalization (19.0%), 47 required ICU care (5.7%), and 28 died (3.4%). Rates of hospitalization (9.3% versus 24.4%, p

Published
2024

2. Correction to: Exclusive Characteristics of the p.E555K Dominant-Negative Variant in Autosomal Dominant E47 Deficiency

Author

Utsumi, Takanori, Tsumura, Miyuki, Yashiro, Masato, Kato, Zenichiro, Noma, Kosuke, Sakura, Fumiaki, Kagawa, Reiko, Mizoguchi, Yoko, Karakawa, Shuhei, Ohnishi, Hidenori, Cunningham-Rundles, Charlotte, Arkwright, Peter D., Kobayashi, Masao, Kanegane, Hirokazu, Bogunovic, Dusan, Boisson, Bertrand, Casanova, Jean-Laurent, Asano, Takaki, and Okada, Satoshi

Published
2024
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3. Exclusive Characteristics of the p.E555K Dominant-Negative Variant in Autosomal Dominant E47 Deficiency

Author

Utsumi, Takanori, Tsumura, Miyuki, Yashiro, Masato, Kato, Zenichiro, Noma, Kosuke, Sakura, Fumiaki, Kagawa, Reiko, Mizoguchi, Yoko, Karakawa, Shuhei, Ohnishi, Hidenori, Cunningham-Rundles, Charlotte, Arkwright, Peter D., Kobayashi, Masao, Kanegane, Hirokazu, Bogunovic, Dusan, Boisson, Bertrand, Casanova, Jean-Laurent, Asano, Takaki, and Okada, Satoshi

Published
2024
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4. Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency.

Author

Yu, David, Miller, Corey, Feng, Yi, Guichard, Audrey, Béziat, Vivien, Bustamante, Jacinta, Pan-Hammarström, Qiang, Zhang, Yu, Rosen, Lindsey, Holland, Steve, Bosticardo, Marita, Kenney, Heather, Castagnoli, Riccardo, Slade, Charlotte, Boztuğ, Kaan, Mahlaoui, Nizar, Latour, Sylvain, Abraham, Roshini, Lougaris, Vassilios, Hauck, Fabian, Sediva, Anna, Atschekzei, Faranaz, Sogkas, Georgios, Poli, M, Slatter, Mary, Palterer, Boaz, Keller, Michael, Pinzon-Charry, Alberto, Sullivan, Anna, Droney, Luke, Suan, Daniel, Wong, Melanie, Kane, Alisa, Hu, Hannah, Ma, Cindy, Grombiříková, Hana, Ciznar, Peter, Dalal, Ilan, Aladjidi, Nathalie, Hie, Miguel, Lazaro, Estibaliz, Franco, Jose, Keles, Sevgi, Malphettes, Marion, Pasquet, Marlene, Maccari, Maria, Meinhardt, Andrea, Ikinciogullari, Aydan, Shahrooei, Mohammad, Celmeli, Fatih, Frosk, Patrick, Goodnow, Christopher, Gray, Paul, Belot, Alexandre, Kuehn, Hye, Rosenzweig, Sergio, Miyara, Makoto, Licciardi, Francesco, Servettaz, Amélie, Barlogis, Vincent, Le Guenno, Guillaume, Herrmann, Vera-Maria, Kuijpers, Taco, Ducoux, Grégoire, Sarrot-Reynauld, Françoise, Schuetz, Catharina, Cunningham-Rundles, Charlotte, Rieux-Laucat, Frédéric, Tangye, Stuart, Sobacchi, Cristina, Doffinger, Rainer, Warnatz, Klaus, Grimbacher, Bodo, Fieschi, Claire, Berteloot, Laureline, Bryant, Vanessa, Trouillet Assant, Sophie, Su, Helen, Neven, Benedicte, Abel, Laurent, Zhang, Qian, Boisson, Bertrand, Cobat, Aurélie, Jouanguy, Emmanuelle, Kampe, Olle, Bastard, Paul, Roifman, Chaim, Landegren, Nils, Notarangelo, Luigi, Le Voyer, Tom, Parent, Audrey, Liu, Xian, Cederholm, Axel, Gervais, Adrian, Rosain, Jérémie, Nguyen, Tina, Perez Lorenzo, Malena, Rackaityte, Elze, Rinchai, Darawan, and Zhang, Peng

Subjects
Humans, Autoantibodies, COVID-19, Gain of Function Mutation, Genetic Predisposition to Disease, Heterozygote, I-kappa B Proteins, Interferon Type I, Loss of Function Mutation, NF-kappa B, NF-kappa B p52 Subunit, Pneumonia, Viral, Thymus Gland, Thyroid Epithelial Cells
Abstract

Patients with autoimmune polyendocrinopathy syndrome type 1 (APS-1) caused by autosomal recessive AIRE deficiency produce autoantibodies that neutralize type I interferons (IFNs)1,2, conferring a predisposition to life-threatening COVID-19 pneumonia3. Here we report that patients with autosomal recessive NIK or RELB deficiency, or a specific type of autosomal-dominant NF-κB2 deficiency, also have neutralizing autoantibodies against type I IFNs and are at higher risk of getting life-threatening COVID-19 pneumonia. In patients with autosomal-dominant NF-κB2 deficiency, these autoantibodies are found only in individuals who are heterozygous for variants associated with both transcription (p52 activity) loss of function (LOF) due to impaired p100 processing to generate p52, and regulatory (IκBδ activity) gain of function (GOF) due to the accumulation of unprocessed p100, therefore increasing the inhibitory activity of IκBδ (hereafter, p52LOF/IκBδGOF). By contrast, neutralizing autoantibodies against type I IFNs are not found in individuals who are heterozygous for NFKB2 variants causing haploinsufficiency of p100 and p52 (hereafter, p52LOF/IκBδLOF) or gain-of-function of p52 (hereafter, p52GOF/IκBδLOF). In contrast to patients with APS-1, patients with disorders of NIK, RELB or NF-κB2 have very few tissue-specific autoantibodies. However, their thymuses have an abnormal structure, with few AIRE-expressing medullary thymic epithelial cells. Human inborn errors of the alternative NF-κB pathway impair the development of AIRE-expressing medullary thymic epithelial cells, thereby underlying the production of autoantibodies against type I IFNs and predisposition to viral diseases.

Published
2023

5. Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome.

Author

Rensing-Ehl, Anne, Neven, Bénédicte, Hadjadj, Jérôme, Hambleton, Sophie, Ronan Leahy, Timothy, Meesilpavikai, Kornvalee, Cunningham-Rundles, Charlotte, Dutmer, Cullen, Sharapova, Svetlana, Taskinen, Mervi, Chua, Ignatius, Hague, Rosie, Klemann, Christian, Kostyuchenko, Larysa, Morio, Tomohiro, Thatayatikom, Akaluck, Ozen, Ahmet, Scherbina, Anna, Bauer, Cindy, Flanagan, Sarah, Gambineri, Eleonora, Giovannini-Chami, Lisa, Heimall, Jennifer, Sullivan, Kathleen, Allenspach, Eric, Romberg, Neil, Deane, Sean, Prince, Benjamin, Rose, Melissa, Bohnsack, John, Mousallem, Talal, Jesudas, Rohith, Santos Vilela, Maria, OSullivan, Michael, Pachlopnik Schmid, Jana, Průhová, Štěpánka, Klocperk, Adam, Rees, Matthew, Su, Helen, Bahna, Sami, Baris, Safa, Bartnikas, Lisa, Chang Berger, Amy, Briggs, Tracy, Brothers, Shannon, Bundy, Vanessa, Grunebaum, Eyal, Haapaniemi, Emma, Hämäläinen, Sari, Heiskanen, Kaarina, Heiskanen-Kosma, Tarja, Hoffman, Hal, Gonzalez-Granado, Luis, Guerrerio, Anthony, Kainulainen, Leena, Kumar, Ashish, Lawrence, Monica, Levin, Carina, Martelius, Timi, Neth, Olaf, Olbrich, Peter, Palma, Alejandro, Patel, Niraj, Pozos, Tamara, Preece, Kahn, Lugo Reyes, Saúl, Russell, Mark, Schejter, Yael, Seroogy, Christine, Sinclair, Jan, Skevofilax, Effie, Suan, Daniel, Suez, Daniel, Szabolcs, Paul, Velasco, Helena, Warnatz, Klaus, Walkovich, Kelly, Worth, Austen, Seppänen, Mikko, Torgerson, Troy, Sogkas, Georgios, Ehl, Stephan, Tangye, Stuart, Cooper, Megan, Milner, Joshua, Forbes Satter, Lisa, Leiding, Jennifer, Vogel, Tiphanie, Santarlas, Valentine, Mhaskar, Rahul, Smith, Madison, Carisey, Alexandre, Vargas-Hernández, Alexander, Silva-Carmona, Manuel, Chandrakasan, Shanmuganathan, Christiansen, Mette, Cole, Theresa, Cook, Matthew, Desai, Mukesh, and Fischer, Ute

Subjects
STAT3, autoimmunity, cytopenia, gain of function, immune dysregulation, immunodeficiency, lymphoproliferation, precision medicine, Child, Humans, Autoimmunity, Cohort Studies, Gain of Function Mutation, Immune System Diseases, Immunologic Deficiency Syndromes, Mutation, STAT3 Transcription Factor, Cell Proliferation, Lymphocytes
Abstract

BACKGROUND: In 2014, germline signal transducer and activator of transcription (STAT) 3 gain-of-function (GOF) mutations were first described to cause a novel multisystem disease of early-onset lymphoproliferation and autoimmunity. OBJECTIVE: This pivotal cohort study defines the scope, natural history, treatment, and overall survival of a large global cohort of patients with pathogenic STAT3 GOF variants. METHODS: We identified 191 patients from 33 countries with 72 unique mutations. Inclusion criteria included symptoms of immune dysregulation and a biochemically confirmed germline heterozygous GOF variant in STAT3. RESULTS: Overall survival was 88%, median age at onset of symptoms was 2.3 years, and median age at diagnosis was 12 years. Immune dysregulatory features were present in all patients: lymphoproliferation was the most common manifestation (73%); increased frequencies of double-negative (CD4-CD8-) T cells were found in 83% of patients tested. Autoimmune cytopenias were the second most common clinical manifestation (67%), followed by growth delay, enteropathy, skin disease, pulmonary disease, endocrinopathy, arthritis, autoimmune hepatitis, neurologic disease, vasculopathy, renal disease, and malignancy. Infections were reported in 72% of the cohort. A cellular and humoral immunodeficiency was observed in 37% and 51% of patients, respectively. Clinical symptoms dramatically improved in patients treated with JAK inhibitors, while a variety of other immunomodulatory treatment modalities were less efficacious. Thus far, 23 patients have undergone bone marrow transplantation, with a 62% survival rate. CONCLUSION: STAT3 GOF patients present with a wide array of immune-mediated disease including lymphoproliferation, autoimmune cytopenias, and multisystem autoimmunity. Patient care tends to be siloed, without a clear treatment strategy. Thus, early identification and prompt treatment implementation are lifesaving for STAT3 GOF syndrome.

Published
2023

6. Employing effective recruitment and retention strategies to engage a diverse pediatric population in genomics research

Author

Ramos, Michelle A., Bonini, Katherine E., Scarimbolo, Laura, Kelly, Nicole R., Insel, Beverly, Suckiel, Sabrina A., Brown, Kaitlyn, Di Biase, Miranda, Gallagher, Katie M., Lopez, Jessenia, Aguiñiga, Karla López, Marathe, Priya N., Maria, Estefany, Odgis, Jacqueline A., Rodriguez, Jessica E., Rodriguez, Michelle A., Ruiz, Nairovylex, Sebastin, Monisha, Yelton, Nicole M., Cunningham-Rundles, Charlotte, Gertner, Melvin, Laguerre, Irma, McDonald, Thomas V., McGoldrick, Patricia E., Robinson, Mimsie, Rubinstein, Arye, Shulman, Lisa H., Williams, Trinisha, Wolf, Steven M., Yozawitz, Elissa G., Zinberg, Randi E., Abul-Husn, Noura S., Bauman, Laurie J., Diaz, George A., Ferket, Bart S., Greally, John M., Jobanputra, Vaidehi, Gelb, Bruce D., Kenny, Eimear E., Wasserstein, Melissa P., and Horowitz, Carol R.

Published
2024
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8. Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee.

Author

Tangye, Stuart G, Al-Herz, Waleed, Bousfiha, Aziz, Cunningham-Rundles, Charlotte, Franco, Jose Luis, Holland, Steven M, Klein, Christoph, Morio, Tomohiro, Oksenhendler, Eric, Picard, Capucine, Puel, Anne, Puck, Jennifer, Seppänen, Mikko RJ, Somech, Raz, Su, Helen C, Sullivan, Kathleen E, Torgerson, Troy R, and Meyts, Isabelle

Subjects
Humans, Immune System Diseases, Immunologic Deficiency Syndromes, Phenotype, Research Report, IUIS Committee update, Inborn errors of immunity, autoinflammatory disorders, immune dysregulation, primary immunodeficiencies, Genetics, Aetiology, 2.1 Biological and endogenous factors, Inflammatory and immune system, Good Health and Well Being, Immunology
Abstract

We report the updated classification of inborn errors of immunity, compiled by the International Union of Immunological Societies Expert Committee. This report documents the key clinical and laboratory features of 55 novel monogenic gene defects, and 1 phenocopy due to autoantibodies, that have either been discovered since the previous update (published January 2020) or were characterized earlier but have since been confirmed or expanded in subsequent studies. While variants in additional genes associated with immune diseases have been reported in the literature, this update includes only those that the committee assessed that reached the necessary threshold to represent novel inborn errors of immunity. There are now a total of 485 inborn errors of immunity. These advances in discovering the genetic causes of human immune diseases continue to significantly further our understanding of molecular, cellular, and immunological mechanisms of disease pathogenesis, thereby simultaneously enhancing immunological knowledge and improving patient diagnosis and management. This report is designed to serve as a resource for immunologists and geneticists pursuing the molecular diagnosis of individuals with heritable immunological disorders and for the scientific dissection of cellular and molecular mechanisms underlying monogenic and related human immune diseases.

Published
2022

10. Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency

Author

Le Voyer, Tom, Parent, Audrey V., Liu, Xian, Cederholm, Axel, Gervais, Adrian, Rosain, Jérémie, Nguyen, Tina, Perez Lorenzo, Malena, Rackaityte, Elze, Rinchai, Darawan, Zhang, Peng, Bizien, Lucy, Hancioglu, Gonca, Ghillani-Dalbin, Pascale, Charuel, Jean-Luc, Philippot, Quentin, Gueye, Mame Sokhna, Maglorius Renkilaraj, Majistor Raj Luxman, Ogishi, Masato, Soudée, Camille, Migaud, Mélanie, Rozenberg, Flore, Momenilandi, Mana, Riller, Quentin, Imberti, Luisa, Delmonte, Ottavia M., Müller, Gabriele, Keller, Baerbel, Orrego, Julio, Franco Gallego, William Alexander, Rubin, Tamar, Emiroglu, Melike, Parvaneh, Nima, Eriksson, Daniel, Aranda-Guillen, Maribel, Berrios, David I., Vong, Linda, Katelaris, Constance H., Mustillo, Peter, Raedler, Johannes, Bohlen, Jonathan, Bengi Celik, Jale, Astudillo, Camila, Winter, Sarah, McLean, Catriona, Guffroy, Aurélien, DeRisi, Joseph L., Yu, David, Miller, Corey, Feng, Yi, Guichard, Audrey, Béziat, Vivien, Bustamante, Jacinta, Pan-Hammarström, Qiang, Zhang, Yu, Rosen, Lindsey B., Holland, Steve M., Bosticardo, Marita, Kenney, Heather, Castagnoli, Riccardo, Slade, Charlotte A., Boztuğ, Kaan, Mahlaoui, Nizar, Latour, Sylvain, Abraham, Roshini S., Lougaris, Vassilios, Hauck, Fabian, Sediva, Anna, Atschekzei, Faranaz, Sogkas, Georgios, Poli, M. Cecilia, Slatter, Mary A., Palterer, Boaz, Keller, Michael D., Pinzon-Charry, Alberto, Sullivan, Anna, Droney, Luke, Suan, Daniel, Wong, Melanie, Kane, Alisa, Hu, Hannah, Ma, Cindy, Grombiříková, Hana, Ciznar, Peter, Dalal, Ilan, Aladjidi, Nathalie, Hie, Miguel, Lazaro, Estibaliz, Franco, Jose, Keles, Sevgi, Malphettes, Marion, Pasquet, Marlene, Maccari, Maria Elena, Meinhardt, Andrea, Ikinciogullari, Aydan, Shahrooei, Mohammad, Celmeli, Fatih, Frosk, Patrick, Goodnow, Christopher C., Gray, Paul E., Belot, Alexandre, Kuehn, Hye Sun, Rosenzweig, Sergio D., Miyara, Makoto, Licciardi, Francesco, Servettaz, Amélie, Barlogis, Vincent, Le Guenno, Guillaume, Herrmann, Vera-Maria, Kuijpers, Taco, Ducoux, Grégoire, Sarrot-Reynauld, Françoise, Schuetz, Catharina, Cunningham-Rundles, Charlotte, Rieux-Laucat, Frédéric, Tangye, Stuart G., Sobacchi, Cristina, Doffinger, Rainer, Warnatz, Klaus, Grimbacher, Bodo, Fieschi, Claire, Berteloot, Laureline, Bryant, Vanessa L., Trouillet Assant, Sophie, Su, Helen, Neven, Benedicte, Abel, Laurent, Zhang, Qian, Boisson, Bertrand, Cobat, Aurélie, Jouanguy, Emmanuelle, Kampe, Olle, Bastard, Paul, Roifman, Chaim M., Landegren, Nils, Notarangelo, Luigi D., Anderson, Mark S., Casanova, Jean-Laurent, and Puel, Anne

Published
2023
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17. The TeleKidSeq pilot study: incorporating telehealth into clinical care of children from diverse backgrounds undergoing whole genome sequencing

Author

Sebastin, Monisha, Odgis, Jacqueline A., Suckiel, Sabrina A., Bonini, Katherine E., Di Biase, Miranda, Brown, Kaitlyn, Marathe, Priya, Kelly, Nicole R., Ramos, Michelle A., Rodriguez, Jessica E., Aguiñiga, Karla López, Lopez, Jessenia, Maria, Estefany, Rodriguez, Michelle A., Yelton, Nicole M., Cunningham-Rundles, Charlotte, Gallagher, Katie, McDonald, Thomas V., McGoldrick, Patricia E., Robinson, Mimsie, Rubinstein, Arye, Shulman, Lisa H., Wolf, Steven M., Yozawitz, Elissa, Zinberg, Randi E., Abul-Husn, Noura S., Bauman, Laurie J., Diaz, George A., Ferket, Bart S., Greally, John M., Jobanputra, Vaidehi, Gelb, Bruce D., Horowitz, Carol R., Kenny, Eimear E., and Wasserstein, Melissa P.

Published
2023
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18. The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee

Author

Tangye, Stuart G, Al-Herz, Waleed, Bousfiha, Aziz, Cunningham-Rundles, Charlotte, Franco, Jose Luis, Holland, Steven M, Klein, Christoph, Morio, Tomohiro, Oksenhendler, Eric, Picard, Capucine, Puel, Anne, Puck, Jennifer, Seppänen, Mikko RJ, Somech, Raz, Su, Helen C, Sullivan, Kathleen E, Torgerson, Troy R, and Meyts, Isabelle

Subjects
Biomedical and Clinical Sciences, Immunology, Orphan Drug, Prevention, Genetics, Pediatric, Rare Diseases, Aetiology, 2.1 Biological and endogenous factors, Inflammatory and immune system, Alleles, COVID-19, Diagnosis, Differential, Disease Management, Genetic Association Studies, Genetic Predisposition to Disease, Genotype, Humans, Immunity, Inheritance Patterns, Phenotype, Primary Immunodeficiency Diseases, Public Health Surveillance, Risk Factors, Inborn errors of immunity, immune dysregulation, primary immunodeficiencies, autoinflammatory disorders
Abstract

The most recent updated classification of inborn errors of immunity/primary immunodeficiencies, compiled by the International Union of Immunological Societies Expert Committee, was published in January 2020. Within days of completing this report, it was already out of date, evidenced by the frequent publication of genetic variants proposed to cause novel inborn errors of immunity. As the next formal report from the IUIS Expert Committee will not be published until 2022, we felt it important to provide the community with a brief update of recent contributions to the field of inborn errors of immunity. Herein, we highlight studies that have identified 26 additional monogenic gene defects that reach the threshold to represent novel causes of immune defects.

Published
2021

19. Coronavirus disease 2019 in patients with inborn errors of immunity: An international study

Author

Meyts, Isabelle, Bucciol, Giorgia, Quinti, Isabella, Neven, Bénédicte, Fischer, Alain, Seoane, Elena, Lopez-Granados, Eduardo, Gianelli, Carla, Robles-Marhuenda, Angel, Jeandel, Pierre-Yves, Paillard, Catherine, Sankaran, Vijay G, Demirdag, Yesim Yilmaz, Lougaris, Vassilios, Aiuti, Alessandro, Plebani, Alessandro, Milito, Cinzia, Dalm, Virgil ASH, Guevara-Hoyer, Kissy, Sánchez-Ramón, Silvia, Bezrodnik, Liliana, Barzaghi, Federica, Gonzalez-Granado, Luis Ignacio, Hayman, Grant R, Uzel, Gulbu, Mendonça, Leonardo Oliveira, Agostini, Carlo, Spadaro, Giuseppe, Badolato, Raffaele, Soresina, Annarosa, Vermeulen, François, Bosteels, Cedric, Lambrecht, Bart N, Keller, Michael, Mustillo, Peter J, Abraham, Roshini S, Gupta, Sudhir, Ozen, Ahmet, Karakoc-Aydiner, Elif, Baris, Safa, Freeman, Alexandra F, Yamazaki-Nakashimada, Marco, Scheffler-Mendoza, Selma, Espinosa-Padilla, Sara, Gennery, Andrew R, Jolles, Stephen, Espinosa, Yazmin, Poli, M Cecilia, Fieschi, Claire, Hauck, Fabian, Cunningham-Rundles, Charlotte, Mahlaoui, Nizar, Errors of Immunity, IUIS Committee of Inborn, Warnatz, Klaus, Sullivan, Kathleen E, and Tangye, Stuart G

Subjects
Vaccine Related, Clinical Research, Pneumonia & Influenza, Prevention, Pediatric, Emerging Infectious Diseases, Pneumonia, Infectious Diseases, Lung, Biodefense, Rare Diseases, Good Health and Well Being, Adolescent, Adult, Aged, COVID-19, Child, Child, Preschool, Female, Genetic Diseases, Inborn, Humans, Immunologic Deficiency Syndromes, Infant, Infant, Newborn, Male, Middle Aged, Retrospective Studies, Risk Factors, SARS-CoV-2, Severity of Illness Index, Young Adult, primary immunodeficiencies, inborn errors of immunity, hypogammaglobulinemia, immune dysregulation, IUIS Committee of Inborn Errors of Immunity, Immunology, Allergy
Abstract

BackgroundThere is uncertainty about the impact of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in individuals with rare inborn errors of immunity (IEI), a population at risk of developing severe coronavirus disease 2019. This is relevant not only for these patients but also for the general population, because studies of IEIs can unveil key requirements for host defense.ObjectiveWe sought to describe the presentation, manifestations, and outcome of SARS-CoV-2 infection in IEI to inform physicians and enhance understanding of host defense against SARS-CoV-2.MethodsAn invitation to participate in a retrospective study was distributed globally to scientific, medical, and patient societies involved in the care and advocacy for patients with IEI.ResultsWe gathered information on 94 patients with IEI with SARS-CoV-2 infection. Their median age was 25 to 34 years. Fifty-three patients (56%) suffered from primary antibody deficiency, 9 (9.6%) had immune dysregulation syndrome, 6 (6.4%) a phagocyte defect, 7 (7.4%) an autoinflammatory disorder, 14 (15%) a combined immunodeficiency, 3 (3%) an innate immune defect, and 2 (2%) bone marrow failure. Ten were asymptomatic, 25 were treated as outpatients, 28 required admission without intensive care or ventilation, 13 required noninvasive ventilation or oxygen administration, 18 were admitted to intensive care units, 12 required invasive ventilation, and 3 required extracorporeal membrane oxygenation. Nine patients (7 adults and 2 children) died.ConclusionsThis study demonstrates that (1) more than 30% of patients with IEI had mild coronavirus disease 2019 (COVID-19) and (2) risk factors predisposing to severe disease/mortality in the general population also seemed to affect patients with IEI, including more younger patients. Further studies will identify pathways that are associated with increased risk of severe disease and are nonredundant or redundant for protection against SARS-CoV-2.

Published
2021

22. Adenosine Deaminase (ADA)-Deficient Severe Combined Immune Deficiency (SCID) in the US Immunodeficiency Network (USIDNet) Registry.

Author

Kuo, Caroline Y, Garabedian, Elizabeth, Puck, Jennifer, Cowan, Morton J, Sullivan, Kathleen E, Buckley, Rebecca H, Cunningham-Rundles, Charlotte, Marsh, Rebecca, Candotti, Fabio, and Kohn, Donald B

Subjects
Humans, Severe Combined Immunodeficiency, Disease Susceptibility, Adenosine Deaminase, Hematopoietic Stem Cell Transplantation, Registries, Child, Child, Preschool, Infant, Infant, Newborn, Disease Management, United States, Female, Male, Genetic Therapy, Public Health Surveillance, Infections, ADA-SCID, Adenosine deaminase–deficient severe combined immune deficiency, US Immunodeficiency Network, gene therapy, hematopoietic stem cell transplant, immunodeficiency, Pediatric, Regenerative Medicine, Pediatric Research Initiative, Stem Cell Research, Transplantation, Clinical Research, Development of treatments and therapeutic interventions, 5.2 Cellular and gene therapies, Adenosine deaminase-deficient severe combined immune deficiency, Immunology
Abstract

Clinical data from ADA-SCID patients registered in the U.S. Immunodeficiency Network (USIDNet) Repository were analyzed. Sixty-four ADA-SCID patients born between 1981 and 2017 had clinical data entered by their local (or home) enrolling institution. Median age at diagnosis was 1 month for those with a positive family history and 3 months for those without a prior family history, with some diagnosed at birth and one as late as 9 years of age. Overall survival was 79.7%, which increased to 94.1% since 2010. These patients had multiple infections and pulmonary, gastrointestinal, and neurological complications. The majority received enzyme replacement therapy (ERT) at some time, including 88% of those born since 2010. Twenty-six patients underwent allogeneic hematopoietic stem cell transplant (HSCT). HSCT successfully supported survival (17/26, 65%) using a variety of cell sources (bone marrow, mobilized peripheral blood, and cord blood) from sibling, family and unrelated donors. Nineteen patients underwent autologous HSCT with gene therapy (GT) using retroviral and lentiviral vectors and all are surviving. The prognosis for patients with ADA-SCID has continued to improve but these patients do have multiple early and potentially long-term conditions that require medical monitoring and management.

Published
2020

23. Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee.

Author

Tangye, Stuart G, Al-Herz, Waleed, Bousfiha, Aziz, Chatila, Talal, Cunningham-Rundles, Charlotte, Etzioni, Amos, Franco, Jose Luis, Holland, Steven M, Klein, Christoph, Morio, Tomohiro, Ochs, Hans D, Oksenhendler, Eric, Picard, Capucine, Puck, Jennifer, Torgerson, Troy R, Casanova, Jean-Laurent, and Sullivan, Kathleen E

Subjects
IUIS, autoinflammatory disorders, immune dysregulation, inborn errors of immunity, next-generation sequencing, primary immune deficiency, Immunology
Abstract

We report the updated classification of Inborn Errors of Immunity/Primary Immunodeficiencies, compiled by the International Union of Immunological Societies Expert Committee. This report documents the key clinical and laboratory features of 430 inborn errors of immunity, including 64 gene defects that have either been discovered in the past 2 years since the previous update (published January 2018) or were characterized earlier but have since been confirmed or expanded upon in subsequent studies. The application of next-generation sequencing continues to expedite the rapid identification of novel gene defects, rare or common; broaden the immunological and clinical phenotypes of conditions arising from known gene defects and even known variants; and implement gene-specific therapies. These advances are contributing to greater understanding of the molecular, cellular, and immunological mechanisms of disease, thereby enhancing immunological knowledge while improving the management of patients and their families. This report serves as a valuable resource for the molecular diagnosis of individuals with heritable immunological disorders and also for the scientific dissection of cellular and molecular mechanisms underlying inborn errors of immunity and related human diseases.

Published
2020

24. Correction to: Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee

Author

Tangye, Stuart G, Al-Herz, Waleed, Bousfiha, Aziz, Chatila, Talal, Cunningham-Rundles, Charlotte, Etzioni, Amos, Franco, Jose Luis, Holland, Steven M, Klein, Christoph, Morio, Tomohiro, Ochs, Hans D, Oksenhendler, Eric, Picard, Capucine, Puck, Jennifer, Torgerson, Troy R, Casanova, Jean-Laurent, and Sullivan, Kathleen E

Subjects
Biomedical and Clinical Sciences, Immunology, Biotechnology
Abstract

The original version of this article unfortunately contained mistakes in reference numbers. The in-text citations and the references were mismatched. The original article has been corrected.

Published
2020

25. Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification

Author

Bousfiha, Aziz, Jeddane, Leila, Picard, Capucine, Al-Herz, Waleed, Ailal, Fatima, Chatila, Talal, Cunningham-Rundles, Charlotte, Etzioni, Amos, Franco, Jose Luis, Holland, Steven M, Klein, Christoph, Morio, Tomohiro, Ochs, Hans D, Oksenhendler, Eric, Puck, Jennifer, Torgerson, Troy R, Casanova, Jean-Laurent, Sullivan, Kathleen E, and Tangye, Stuart G

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Genetics, Autoimmunity, Genotype, Hereditary Autoinflammatory Diseases, Humans, Hypersensitivity, Immunity, Immunologic Deficiency Syndromes, Phenotype, IUIS, primary immune deficiency, inborn errors of immunity, immune dysregulation, autoinflammatory disorders, classification, Immunology
Abstract

Since 2013, the International Union of Immunological Societies (IUIS) expert committee (EC) on Inborn Errors of Immunity (IEI) has published an updated phenotypic classification of IEI, which accompanies and complements their genotypic classification into ten tables. This phenotypic classification is user-friendly and serves as a resource for clinicians at the bedside. There are now 430 single-gene IEI underlying phenotypes as diverse as infection, malignancy, allergy, autoimmunity, and autoinflammation. We herein report the 2019 phenotypic classification, including the 65 new conditions. The diagnostic algorithms are based on clinical and laboratory phenotypes for each of the ten broad categories of IEI.

Published
2020

26. Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome

Author

Aleshkevich, Svetlana, Allende, Luis M., Atkinson, T. Prescott, Atschekzei, Faranaz, Aydemir, Sezin, Aygunes, Utku, Barlogis, Vincent, Baumann, Ulrich, Belko, John, Bezrodnik, Liliana, Biebl, Ariane, Broderick, Lori, Bunin, Nancy J., Caldirola, Maria Soledad, Castelle, Martin, Celmeli, Fatih, Charbonnier, Louis-Marie, Chatila, Talal A., Chellapandian, Deepak, Cokugras, Haluk, Conlon, Niall, Cox, Fionnuala, Crickx, Etienne, Dalgic, Buket, ASH Dalm, Virgil, Danielian, Silvia, Dominguez-Pinilla, Nerea, Dujovny, Tal, Ebbo, Mikael, Eken, Ahmet, Esty, Brittany, Fabre, Alexandre, Fischer, Alain, Hannibal, Mark, Huppert, Laura, Ikeda, Marc D., Jolles, Stephen, Jolly, Kent W., Jones, Neil, Kanariou, Maria, Karakoc-Aydiner, Elif, Karamantziani, Theoni, Kelaidi, Charikleia, Keogan, Mary, Pac Kisaarslan, Ayşenur, Kiykim, Ayca, Klocperk, Adam, Kotsonis, Kosmas, Kuzmenko, Natalia, Leroy, Sylvie, Lianou, Dimitra, Longhurst, Hilary, Lorenz, Myriam Ricarda, Maffucci, Patrick, Manson, Ania, Marchal, Sarah, Malphettes, Marion, Marega, Lia Furlaneto, Mauracher, Andrea A., Meesilpavikai, Kornvalee, Miller, Holly, Mombourquette, Joy, Morgan, Noel G., Mukhina, Anna, Nathalie, Aladjidi, Nelken, Brigitte, Nolan, David, Norlin, Anna-Carin, Oleastro, Matias, Ozcan, Alper, Pasquet, Marlene, Pegler, José Roberto, Picard, Capucine, Polychronopoulou, Sophia, Quartier, Pierre, Quesada, Juan Francisco, Ramakers, Jan, Randall, Katrina L., Rao, V. Koneti, Remiker, Allison, Resin, Geraldine, Richmond, Peter, Rieux-Laucat, Frederic, Rodina, Yulia, Rohrlich, Pierre, Sachs, Johnathan, Sakovich, Inga, Santarlas, Christopher, Sari, Sinan, Sawicki, Gregory, Schauer, Uwe, Scheffler Mendoza, Selma C., Schvetz, Oksana, Schmidt, Reinhold Ernst, Schwarz, Klaus, Sediva, Anna, Sinclair, Kyle, Slatter, Mary, Sleasman, John, Stergiou, Katerina, Suratannon, Narissara, Tanita, Kay, Thompson, Grace, Travis, Stephen, Trojan, Timothy, Tsinti, Maria, Unal, Ekrem, Urdinez, Luciano, Vazquez-Gomez, Felisa, Villa, Mariana, Weinrich, Michael, Weiss, Mitchell J., Wright, Benjamin, Yilmaz, Ebru, Zachova, Radana, Zhang, Yu, Leiding, Jennifer W., Vogel, Tiphanie P., Santarlas, Valentine G.J., Mhaskar, Rahul, Smith, Madison R., Carisey, Alexandre, Vargas-Hernández, Alexander, Silva-Carmona, Manuel, Heeg, Maximilian, Rensing-Ehl, Anne, Neven, Bénédicte, Hadjadj, Jérôme, Hambleton, Sophie, Ronan Leahy, Timothy, Cunningham-Rundles, Charlotte, Dutmer, Cullen M., Sharapova, Svetlana O., Taskinen, Mervi, Chua, Ignatius, Hague, Rosie, Klemann, Christian, Kostyuchenko, Larysa, Morio, Tomohiro, Thatayatikom, Akaluck, Ozen, Ahmet, Scherbina, Anna, Bauer, Cindy S., Flanagan, Sarah E., Gambineri, Eleonora, Giovannini-Chami, Lisa, Heimall, Jennifer, Sullivan, Kathleen E., Allenspach, Eric, Romberg, Neil, Deane, Sean G., Prince, Benjamin T., Rose, Melissa J., Bohnsack, John, Mousallem, Talal, Jesudas, Rohith, Santos Vilela, Maria Marluce Dos, O’Sullivan, Michael, Pachlopnik Schmid, Jana, Průhová, Štěpánka, Rees, Matthew, Su, Helen, Bahna, Sami, Baris, Safa, Bartnikas, Lisa M., Chang Berger, Amy, Briggs, Tracy A., Brothers, Shannon, Bundy, Vanessa, Chan, Alice Y., Chandrakasan, Shanmuganathan, Christiansen, Mette, Cole, Theresa, Cook, Matthew C., Desai, Mukesh M., Fischer, Ute, Fulcher, David A., Gallo, Silvanna, Gauthier, Amelie, Gennery, Andrew R., Gonçalo Marques, José, Gottrand, Frédéric, Grimbacher, Bodo, Grunebaum, Eyal, Haapaniemi, Emma, Hämäläinen, Sari, Heiskanen, Kaarina, Heiskanen-Kosma, Tarja, Hoffman, Hal M., Gonzalez-Granado, Luis Ignacio, Guerrerio, Anthony L., Kainulainen, Leena, Kumar, Ashish, Lawrence, Monica G., Levin, Carina, Martelius, Timi, Neth, Olaf, Olbrich, Peter, Palma, Alejandro, Patel, Niraj C., Pozos, Tamara, Preece, Kahn, Lugo Reyes, Saúl Oswaldo, Russell, Mark A., Schejter, Yael, Seroogy, Christine, Sinclair, Jan, Skevofilax, Effie, Suan, Daniel, Suez, Daniel, Szabolcs, Paul, Velasco, Helena, Warnatz, Klaus, Walkovich, Kelly, Worth, Austen, Seppänen, Mikko R.J., Torgerson, Troy R., Sogkas, Georgios, Ehl, Stephan, Tangye, Stuart G., Cooper, Megan A., Milner, Joshua D., and Forbes Satter, Lisa R.

Published
2023
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30. Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

Author

Köhler, Sebastian, Carmody, Leigh, Vasilevsky, Nicole, Jacobsen, Julius OB, Danis, Daniel, Gourdine, Jean-Philippe, Gargano, Michael, Harris, Nomi L, Matentzoglu, Nicolas, McMurry, Julie A, Osumi-Sutherland, David, Cipriani, Valentina, Balhoff, James P, Conlin, Tom, Blau, Hannah, Baynam, Gareth, Palmer, Richard, Gratian, Dylan, Dawkins, Hugh, Segal, Michael, Jansen, Anna C, Muaz, Ahmed, Chang, Willie H, Bergerson, Jenna, Laulederkind, Stanley JF, Yüksel, Zafer, Beltran, Sergi, Freeman, Alexandra F, Sergouniotis, Panagiotis I, Durkin, Daniel, Storm, Andrea L, Hanauer, Marc, Brudno, Michael, Bello, Susan M, Sincan, Murat, Rageth, Kayli, Wheeler, Matthew T, Oegema, Renske, Lourghi, Halima, Della Rocca, Maria G, Thompson, Rachel, Castellanos, Francisco, Priest, James, Cunningham-Rundles, Charlotte, Hegde, Ayushi, Lovering, Ruth C, Hajek, Catherine, Olry, Annie, Notarangelo, Luigi, Similuk, Morgan, Zhang, Xingmin A, Gómez-Andrés, David, Lochmüller, Hanns, Dollfus, Hélène, Rosenzweig, Sergio, Marwaha, Shruti, Rath, Ana, Sullivan, Kathleen, Smith, Cynthia, Milner, Joshua D, Leroux, Dorothée, Boerkoel, Cornelius F, Klion, Amy, Carter, Melody C, Groza, Tudor, Smedley, Damian, Haendel, Melissa A, Mungall, Chris, and Robinson, Peter N

Subjects
Biological Sciences, Bioinformatics and Computational Biology, Genetics, Human Genome, Networking and Information Technology R&D (NITRD), Rare Diseases, Generic health relevance, Good Health and Well Being, Biological Ontologies, Computational Biology, Congenital Abnormalities, Databases, Genetic, Genetic Predisposition to Disease, Genetic Variation, Humans, Internet, Knowledge Bases, Phenotype, Whole Genome Sequencing, Environmental Sciences, Information and Computing Sciences, Developmental Biology, Biological sciences, Chemical sciences, Environmental sciences
Abstract

The Human Phenotype Ontology (HPO)-a standardized vocabulary of phenotypic abnormalities associated with 7000+ diseases-is used by thousands of researchers, clinicians, informaticians and electronic health record systems around the world. Its detailed descriptions of clinical abnormalities and computable disease definitions have made HPO the de facto standard for deep phenotyping in the field of rare disease. The HPO's interoperability with other ontologies has enabled it to be used to improve diagnostic accuracy by incorporating model organism data. It also plays a key role in the popular Exomiser tool, which identifies potential disease-causing variants from whole-exome or whole-genome sequencing data. Since the HPO was first introduced in 2008, its users have become both more numerous and more diverse. To meet these emerging needs, the project has added new content, language translations, mappings and computational tooling, as well as integrations with external community data. The HPO continues to collaborate with clinical adopters to improve specific areas of the ontology and extend standardized disease descriptions. The newly redesigned HPO website (www.human-phenotype-ontology.org) simplifies browsing terms and exploring clinical features, diseases, and human genes.

Published
2019

31. Genomic characterization of lymphomas in patients with inborn errors of immunity

Author

Ye, Xiaofei, Maglione, Paul J., Wehr, Claudia, Li, Xiaobo, Wang, Yating, Abolhassani, Hassan, Deripapa, Elena, Liu, Dongbing, Borte, Stephan, Du, Likun, Wan, Hui, Plötner, Andreas, Giannoula, Yvonne, Ko, Huai-Bin, Hou, Yong, Zhu, Shida, Grossman, Jennifer K., Sander, Birgitta, Grimbacher, Bodo, Hammarström, Lennart, Fedorova, Alina, Rosenzweig, Sergio D., Shcherbina, Anna, Wu, Kui, Warnatz, Klaus, Cunningham-Rundles, Charlotte, and Pan-Hammarström, Qiang

Published
2022
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34. Morbidity, Mortality, and Therapeutics in Combined Immunodeficiency: Data From the USIDNET Registry

Author

Puck, Jennifer, Secord, Elizabeth, Akhter, Javeed, Pozos, Tamara, Fuleihan, Ramsay, Chen, Karin, Buckley, Rebecca, Patel, Niraj, Suez, Daniel, Cooper, Megan, Butte, Manish, Bonilla, Francisco, Walkovich, Kelly, Haddad, Elie, Cunningham-Rundles, Charlotte, Kleiner, Gary, Chong, Hey, Ballas, Zuhair, Uygungil, Burcin, Hernandez-Trujillo, Vivian, Secord, Elizabeth A., Hartog, Nicholas, Dorsey, Morna, Shapiro, Ralph, Schuval, Susan, Notarangelo, Luigi, Routes, John, Knight, Adina, Bennett, Nicholas, Khan, Fatima, Walter, Jolan, Seroogy, Christine, Ochs, Hans, Haines, Kathleen, Muskat, Mica, Costa Reis, Patricia, Cheng, Laurence, Durkee-Shock, Jessica, Zhang, Anqing, Liang, Hua, Wright, Hannah, Magnusson, Julieann, Garabedian, Elizabeth, Marsh, Rebecca A., Sullivan, Kathleen E., and Keller, Michael D.

Published
2022
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36. Practical guidance for the diagnosis and management of secondary hypogammaglobulinemia: A Work Group Report of the AAAAI Primary Immunodeficiency and Altered Immune Response Committees

Author

Otani, Iris M., Lehman, Heather K., Jongco, Artemio M., Tsao, Lulu R., Azar, Antoine E., Tarrant, Teresa K., Engel, Elissa, Walter, Jolan E., Truong, Tho Q., Khan, David A., Ballow, Mark, Cunningham-Rundles, Charlotte, Lu, Huifang, Kwan, Mildred, and Barmettler, Sara

Published
2022
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37. Maintenance of X chromosome inactivation after T cell activation requires NF-κB signaling.

Author

Forsyth, Katherine S., Toothacre, Natalie E., Jiwrajka, Nikhil, Driscoll, Amanda M., Shallberg, Lindsey A., Cunningham-Rundles, Charlotte, Barmettler, Sara, Farmer, Jocelyn, Verbsky, James, Routes, John, Beiting, Daniel P., Romberg, Neil, May, Michael J., and Anguera, Montserrat C.

Subjects
T cell receptors, X chromosome, T cells, RNA modification & restriction, SOMATIC cells, EPIGENOMICS
Abstract

X chromosome inactivation (XCI) balances X-linked gene dosage between sexes. Unstimulated T cells lack cytological enrichment of X-inactive specific transcript (Xist) RNA and heterochromatic modifications on the inactive X chromosome (Xi), which are involved in maintenance of XCI, and these modifications return to the Xi after stimulation. Here, we examined allele-specific gene expression and epigenomic profiles of the Xi in T cells. We found that the Xi in unstimulated T cells is largely dosage compensated and enriched with the repressive H3K27me3 modification but not the H2AK119-ubiquitin (Ub) mark. Upon T cell stimulation mediated by both CD3 and CD28, the Xi accumulated H2AK119-Ub at gene regions of previous H3K27me3 enrichment. T cell receptor (TCR) engagement, specifically NF-κB signaling downstream of the TCR, was required for Xist RNA localization to the Xi. Disruption of NF-κB signaling in mouse and human T cells using genetic deletion, chemical inhibitors, and patients with immunodeficiencies prevented Xist/XIST RNA accumulation at the Xi and altered X-linked gene expression. Our findings reveal a previously undescribed connection between NF-κB signaling pathways, which affects XCI maintenance in T cells in females. Editor's summary: X chromosome inactivation (XCI) is the process by which X-linked gene expression is repressed in female cells to balance gene dosage between the sexes. Unlike most somatic cells, regulation of XCI is more dynamic in T cells. Using allele-specific transcriptional and epigenomic profiling, Forsyth et al. found that T cell receptor activation and downstream NF-κB signaling is required for XCI maintenance in mouse and human T cells. Inhibition of NF-κB prevented relocalization of Xist RNA and repressive histone modifications to the inactive X chromosome. Together, these findings indicate that defects in NF-κB–mediated regulation of XCI could contribute to sex-biased immune responses such as autoimmunity. —Claire Olingy [ABSTRACT FROM AUTHOR]

Published
2024
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38. Overactive WASp in X-linked neutropenia leads to aberrant B-cell division and accelerated plasma cell generation

Author

He, Minghui, Saeed, Mezida B., Record, Julien, Keszei, Marton, Gonçalves Pinho, Lia, Vasconcelos-Fontes, Larissa, D’Aulerio, Roberta, Vieira, Rhaissa, Oliveira, Mariana M.S., Geyer, Chiara, Bohaumilitzky, Lena, Thiemann, Meike, Deordieva, Ekaterina, Buedts, Lieselot, Matias Lopes, Joao Pedro, Pershin, Dmitry, Hammarström, Lennart, Xia, Yu, Zhao, Xiaodong, Cunningham-Rundles, Charlotte, Thrasher, Adrian J., Burns, Siobhan O., Cotta-de-Almeida, Vinicius, Liu, Chaohong, Shcherbina, Anna, Vandenberghe, Peter, and Westerberg, Lisa S.

Published
2022
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40. Case Series: Convalescent Plasma Therapy for Patients with COVID-19 and Primary Antibody Deficiency

Author

Lang-Meli, Julia, Fuchs, Jonas, Mathé, Philipp, Ho, Hsi-en, Kern, Lisa, Jaki, Lena, Rusignuolo, Giuseppe, Mertins, Susanne, Somogyi, Vivien, Neumann-Haefelin, Christoph, Trinkmann, Frederik, Müller, Michael, Thimme, Robert, Umhau, Markus, Quinti, Isabella, Wagner, Dirk, Panning, Marcus, Cunningham-Rundles, Charlotte, Laubner, Katharina, and Warnatz, Klaus

Published
2022
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41. Autosomal Dominant Hyper-IgE Syndrome in the USIDNET Registry

Author

Gernez, Yael, Freeman, Alexandra F, Holland, Steven M, Garabedian, Elizabeth, Patel, Niraj C, Puck, Jennifer M, Sullivan, Kathleen E, Akhter, Javeed, Secord, Elizabeth, Chen, Karin, Buckley, Rebecca, Haddad, Elie, Ochs, Hans D, Fuleihan, Ramsay, Routes, John, Muskat, Mica, Lugar, Patricia, Mancini, Julien, and Cunningham-Rundles, Charlotte

Subjects
Lung, Clinical Research, Rare Diseases, Adolescent, Adult, Aged, Aspergillus fumigatus, Child, Child, Preschool, Drug Hypersensitivity, Eosinophilia, Female, Follow-Up Studies, Food Hypersensitivity, Humans, Immunoglobulin E, Job Syndrome, Male, Medical History Taking, Middle Aged, Pseudomonas aeruginosa, Quebec, Registries, Respiratory Tract Infections, Skin, Staphylococcus aureus, Tooth, Young Adult, Buckley-Job syndrome, Chronic mucocutaneous candidiasis, Immunodeficiency, Pneumatocele, Quality of life
Abstract

BackgroundAutosomal dominant hyper-IgE syndrome (AD-HIES) is a rare condition.ObjectiveData from the USIDNET Registry provide a resource to examine the characteristics of patients with rare immune deficiency diseases.MethodsA query was submitted to the USIDNET requesting deidentified data for patients with physician-diagnosed AD-HIES through July 2016.ResultsData on 85 patients diagnosed with AD-HIES (50 males; 35 females) born between 1950 and 2013, collected by 14 physicians from 25 states and Quebec, were entered into the USIDNET Registry by July 2016. Cumulative follow-up was 2157 years. Of these patients, 45.9% had a family history of HIES. The complications reported included skin abscesses (74.4%), eczema (57.7%), retained primary teeth (41.4%), fractures (39%), scoliosis (34.1%), and cancer (7%). Reported allergic diseases included food (37.8%), environmental (18%), and drugs (42.7%). The mean serum IgE level was 8383.7 kU/mL and was inversely correlated to the patient's age. A total of 49.4% had eosinophilia; 56% were known to be on trimethoprim-sulfamethoxazole, 26.6% on antifungal coverage, and 30.6% on immunoglobulin replacement therapy. Pneumonias were more commonly attributed to Staphylococcus aureus (55.3%) or Aspergillus fumigatus (22.4%); 19.5% had a history of lung abscess; these were most often associated with Pseudomonas aeruginosa (P Fisher's exact test = .029) or A. fumigatus (P Fisher's exact test = .016). Lung abscesses were significantly associated with drug reactions (P χ2 = .01; odds ratio: 4.03 [1.2-12.97]), depression (P Fisher's exact test = .036), and lower Karnofsky index scores (P Mann-Whitney = .007).DiscussionData from the USIDNET Registry summarize the currently reported clinical characteristics of a large cohort of subjects with AD-HIES.

Published
2018

42. International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity

Author

Picard, Capucine, Bobby Gaspar, H, Al-Herz, Waleed, Bousfiha, Aziz, Casanova, Jean-Laurent, Chatila, Talal, Crow, Yanick J, Cunningham-Rundles, Charlotte, Etzioni, Amos, Franco, Jose Luis, Holland, Steven M, Klein, Christoph, Morio, Tomohiro, Ochs, Hans D, Oksenhendler, Eric, Puck, Jennifer, Tang, Mimi LK, Tangye, Stuart G, Torgerson, Troy R, and Sullivan, Kathleen E

Subjects
Inflammatory and immune system, Allergy and Immunology, Humans, Immunity, Immunologic Deficiency Syndromes, Research Report, Societies, Scientific, World Health Organization, IUIS, primary immune deficiency, immune dysregulation, autoinflammatory disorders, Immunology
Abstract

Beginning in 1970, a committee was constituted under the auspices of the World Health Organization (WHO) to catalog primary immunodeficiencies. Twenty years later, the International Union of Immunological Societies (IUIS) took the remit of this committee. The current report details the categorization and listing of 354 (as of February 2017) inborn errors of immunity. The growth and increasing complexity of the field have been impressive, encompassing an increasing variety of conditions, and the classification described here will serve as a critical reference for immunologists and researchers worldwide.

Published
2018

43. The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies

Author

Bousfiha, Aziz, Jeddane, Leïla, Picard, Capucine, Ailal, Fatima, Bobby Gaspar, H, Al-Herz, Waleed, Chatila, Talal, Crow, Yanick J, Cunningham-Rundles, Charlotte, Etzioni, Amos, Franco, Jose Luis, Holland, Steven M, Klein, Christoph, Morio, Tomohiro, Ochs, Hans D, Oksenhendler, Eric, Puck, Jennifer, Tang, Mimi LK, Tangye, Stuart G, Torgerson, Troy R, Casanova, Jean-Laurent, and Sullivan, Kathleen E

Subjects
Biomedical and Clinical Sciences, Immunology, Genetics, Prevention, Inflammatory and immune system, Allergy and Immunology, Humans, Immunity, Immunologic Deficiency Syndromes, International Cooperation, Phenotype, Primary immunodeficiencies, Classification, Phenotypic, IUIS, Inborn errors of immunity
Abstract

Since the 1990s, the International Union of Immunological Societies (IUIS) PID expert committee (EC), now called Inborn Errors of Immunity Committee, has published every other year a classification of the inborn errors of immunity. This complete catalog serves as a reference for immunologists and researchers worldwide. However, it was unadapted for clinicians at the bedside. For those, the IUIS PID EC is now publishing a phenotypical classification since 2013, which proved to be more user-friendly. There are now 320 single-gene inborn errors of immunity underlying phenotypes as diverse as infection, malignancy, allergy, auto-immunity, and auto-inflammation. We herein propose the revised 2017 phenotypic classification, based on the accompanying 2017 IUIS Inborn Errors of Immunity Committee classification.

Published
2018

44. 177 ClinGen Framework for PIK3CD Variant Classification: Use of Adapted ACMG/AMP Guidelines

Author

Nieto-Patlán, Alejandro, primary, Worley, Lindsay, additional, Hankey, William, additional, Hilliard, Kyle, additional, Siew, Justine, additional, Wang, Lijun, additional, Boisson, Bertrand, additional, Maimaris, Jes, additional, Cunningham-Rundles, Charlotte, additional, Jordan, Michael, additional, Ma, Cindy, additional, Peng, Xiao, additional, McLaughlin, Heather, additional, Zelm, Menno van, additional, Lucas, Carrie, additional, Markle, Janet, additional, Puel, Anne, additional, and Begtrup, Amber, additional

Published
2024
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49. Selective Ig[A.sub.2] deficiency in a patient with small intestinal Crohn's disease

Author

Canales-Herrerias, Pablo, Garcia-Carmona, Yolanda, Shang, Joan, Meringer, Hadar, Yee, Debra S., Radigan, Lin, Buta, Sofija, Martinez-Delgado, Gustavo, Tankelevich, Michael, Helmus, Drew, Dubinsky, Marla, Everts-van der Mind, Annelie, Dervieux, Thierry, Bogunovic, Dusan, Colombel, Jean-Frederic, Brenchley, Jason M., Faith, Jeremiah, Cunningham- Rundles, Charlotte, Cerutti, Andrea, and Mehandru, Saurabh

Subjects
Intestine, Small -- Case studies -- Health aspects, Immunological deficiency syndromes -- Case studies -- Diagnosis, Immunoglobulin A -- Case studies -- Health aspects, Crohn's disease -- Case studies -- Diagnosis, Health care industry
Abstract

To the Editor: The human IgA response is composed of two antibody subclasses, [IgA.sub.1] and Ig[A.sub.2]. With a shorter hinge region, Ig[A.sub.2] is more resistant to bacterial proteases. Anecdotal evidence [...]

Published
2023

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