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Severe combined immunodeficiency caused by inositol-trisphosphate 3-kinase B (ITPKB) deficiency

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2020)

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JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

卷 145, 期 6, 页码 1696-+

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MOSBY-ELSEVIER

DOI: 10.1016/j.jaci.2020.01.014

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Allergy Immunology

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Perkin Foundation

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Karlson, Ann E. Woolley, Jordan W. Smoller, Shawn N. Murphy, James B. Meigs, Robert C. Green, Emma F. Perez, Steven Ascolillo, Ryan C. Thompson, Noam D. Beckmann, Robert P. Sebra, Kyle Gettler, Irene Salib, Marissa Zyndorf, Eric E. Schadt, Brett L. Collins, Tess Levy, Joseph D. Buxbaum, Bari Britvan, Katherine Keller, Lara Tang, Michael Peruggia, Liam L. Hiester, Kristi Niblo, Alexandra Aksentijevich, Alexander Labkowsky, Avromie Karp, Menachem Zlatopolsky, Daniel M. Jordan, Kumardeep Chaudhary, Judy H. Cho, Yuval Itan, Ron Do, Girish N. Nadkarni, Michael Preuss, Ruth J. F. Loos, Gillian M. Belbin, Noura S. Abul-Husn, Eimear E. Kenny, Sam Choi, Paul O'Reilly, Alexander W. Charney, Laura M. Huckins, Manuel A. R. Ferreira, Goncalo R. Abecasis, Michael N. Cantor, Jack A. Kosmicki, Julie E. Horowitz, Aris Baras, Ashish Yadav, Joseph B. Leader, Matthew C. Gass, Anne E. Justice, Geetha Chittoor, Navya Shilpa Josyula, Dave J. Carey, Tooraj Mirshahi, Jouke Jan Hottenga, Meike Bartels, Eco E. J. C. de Geus, Michel M. G. Nivard, Anurag Verma, Marylyn D. Ritchie, Daniel Rader, Shefali S. Verma, Anastasia Lucas, Yuki Bradford, Binglan Li, Malak Abedalthagafi, Fawz Al Harthi, Ebtehal Alsolm, Leen Abu Safieh, Albandary M. Alowayn, Fatimah Alqubaishi, Amal Al Mutairi, Hadeel AlBardis, Sara Alotaibi, Mohammad S. Fawzy, Manal Alaamery, Salam Massadeh, Mansour Almutairi, Abdulraheem Alshareef, Bandar A. Suliman, Mona Sawaji, Abdulaziz AlMalik, Saleh Alqahtani, Dona Baraka, Rana Hasanato, Serghei Mangul, Nora Aljawini, Nour Albesher, Sarah Alkwai, Moneera Alswailm, Iman Almohammed, Yaseen M. Arabi, Ebrahim S. Mahmoud, Amin K. Khattab, Roaa T. Halawani, Ziab Z. Alahmadey, Jehad K. Albakri, Walaa A. Felemban, Laila Al-Awdah, Jahad Alghamdi, Deema AlZahrani, Nouf AlDhawi, Faisal Almalki, Maha Albeladi, Anoud Albader, Sameera AlJohani, Hani Al-Afghani, Eman Barhoush, Bader Alghamdi, Junghyun Jung, May Alrashed, Hugo Zeberg, Tomislav Maricic, Robert Frithiof, Michael Hultstrom, Miklos Lipcsey, Nicolas Tardif, Olav Rooyackers, Jonathan Grip, Oyvind Helgeland, Jennifer R. Harris, Per Magnus, Yunsung Lee, Lill-Iren S. Trogstad, Massimo Mangino, Tim D. Spector, Duncan Emma, Loukas Moutsianas, Mark J. Caulfield, Richard H. Scott, Augusto Rendon, Athanasios Kousathanas, Dorota Pasko, Susan Walker, Alex Stuckey, Christopher A. Odhams, Daniel Rhodes, Tom Fowler, Georgia Chan, Prabhu Arumugam, Daniel J. Wilson, Sarah G. Earle, Shang-Kuan Lin, Nicolas Arning, Jacob Armstrong, Justine K. Rudkin, Chris C. A. Spencer, Nils Koelling, Derrick W. Crook, David H. Wyllie, Anne Marie O'Connell, Gavin Band, Shawneequa Callier, Nicole Soranzo, Jing Hua Zhao, John Danesh, Emanuele Di Angelantonio, Adam S. Butterworth, Yan Sun, Jennifer E. Huffman, Christopher J. O'Donnell, Gina Peloso, Kelly Cho, J. Michael Gaziano, Yuk-Lam Ho, Phil Tsao, James Priest, Sandra P. Smieszek, Christos Polymeropoulos, Vasilios Polymeropoulos, Mihael H. Polymeropoulos, Bartlomiej P. Przychodzen, Israel Fernandez-Cadenas, Laia Llucia-Carol, Natalia Cullell, Elena Muino, Jara Carcel-Marquez, Anna M. Planas, Jordi Perez-Tur, Marta L. DeDiego, Lara Lloret Iglesias, Alex Soriano, Veronica Rico, Daiana Aguero, Josep L. Bedini, Carlos Domingo, Veronica Robles, Francisco Lozano, Francisca Ruiz-Jaen, Leonardo Marquez, Juan Gomez, Eliecer Coto, Guillermo M. Albaiceta, Marta Garcia-Clemente, David Dalmau, Maria J. Arranz, Beatriz Dietl, Alex Serra-Llovich, Pere Soler, Roger Colobran, Andrea Martin-Nalda, Alba Parra Martinez, David Bernardo, Aida Fiz-Lopez, Elisa Arribas, Paloma De La Cal-Sabater, Silvia Rojo, Tomas Segura, Esther Gonzalez-Villa, Gemma Serrano-Heras, Joan Marti-Fabregas, Elena Jimenez-Xarrie, Alicia de Felipe Mimbrera, Jaime Masjuan, Sebastian Garcia-Madrona, Anna Dominguez-Mayoral, Joan Montaner Villalonga, Paloma Menendez-Valladares, Daniel Chasman, Howard D. Sesso, JoAnn E. Manson, Julie E. Buring, Paul M. Ridker, Giulianini Franco, Sulggi Lee, Les Biesecker

NATURE (2022)

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Article Pediatrics

An Assessment of the Relationship between BMI and Children Undergoing Surgical Procedures: A Retrospective Study

Megan E. Paul, Jacqueline G. Wallace, Brian A. Coakley

Summary: Obese children have different postoperative outcomes, requiring more tonsillectomy/adenoidectomy and vascular access procedures. The only complication associated with obesity is wound dehiscence.

CHILDHOOD OBESITY (2023)

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Article Immunology

Clinical, immunological, molecular and therapeutic findings in monogenic immune dysregulation diseases: Middle East and North Africa registry

Mahnaz Jamee, Gholamreza Azizi, Safa Baris, Elif Karakoc-Aydiner, Ahmet Ozen, Sara S. Kilic, Hulya Kose, Zahra Chavoshzadeh, Seyed Alireza Mahdaviani, Tooba Momen, Bibi Shahin Shamsian, Mazdak Fallahi, Samin Sharafian, Nesrin Gulez, Ayse Aygun, Neslihan Edeer Karaca, Necil Kutukculer, Nashat Al Sukait, Tariq Al Farsi, Salem Al-Tamemi, Nisreen Khalifa, Reda Shereen, Dalia El-Ghoneimy, Rasha El-Owaidy, Nesrine Radwan, Raed Alzyoud, Mohamed-Ridha Barbouche, Imen Ben-Mustapha, Najla Mekki, Afef Rais, Rachida Boukari, Reda Belbouab, Kamel Djenouhat, Azzeddine Tahiat, Souad Touri, Gehad Elghazali, Suleiman Al-Hammadi, Hiba Mohammed Shendi, Amna Alkuwaiti, Brahim Belaid, Reda Djidjik, Hasibe Artac, Mehdi Adeli, Ali Sobh, Marwa H. Elnagdy, Sara A. Bahgat, Gulnara Nasrullayeva, Janet Chou, Nima Rezaei, Waleed Al-Herz, Raif S. Geha, Hassan Abolhassani

Summary: This study investigated the prevalence, spectrum, genetic patterns, and outcomes of monogenic immune dysregulation diseases (MIDD) in the Middle East and North Africa (MENA) region. The results showed that LRBA, LYST, and RAB27A were the most common defective genes in MIDD patients, and the most prevalent manifestations were infections, autoimmunity, and organomegaly. Treatments included immunoglobulin replacement therapy, hematopoietic stem cell transplantation, immunosuppressives, and surgery.

CLINICAL IMMUNOLOGY (2022)

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Article Allergy

The Middle East and North Africa Diagnosis and Management Guidelines for Inborn Errors of Immunity

Safa Baris, Hassan Abolhassani, Michel J. Massaad, Maryam Al-Nesf, Zahra Chavoshzadeh, Sevgi Keles, Ismail Reisli, Azzeddine Tahiat, Hiba Mohammad Shendi, Dalia Abd Elaziz, Brahim Belaid, Fatima Al Dhaheri, Sule Haskologlu, Figen Dogu, Imen Ben-Mustapha, Ali Sobh, Nermeen Galal, Safa Meshaal, Rabab Elhawary, Aisha El-marsafy, Fayhan J. Alroqi, Bandar Al-Saud, Mona Al-Ahmad, Tariq Al Farsi, Nashat AL Sukaiti, Salem Al-Tamemi, Cybel Mehawej, Ghassan Dbaibo, Gehad ElGhazali, Sara Sebnem Kilic, Ferah Genel, Ayca Kiykim, Ugur Musabak, Hasibe Artac, Sukru Nail Guner, Rachida Boukari, Reda Djidjik, Nadia Kechout, Deniz Cagdas, Zeinab Awad El-Sayed, Elif Karakoc-Aydiner, Raed Alzyoud, Mohamed Ridha Barbouche, Mehdi Adeli, Rima Hanna Wakim, Shereen M. Reda, Aydan Ikinciogullari, Ahmet Ozen, Aziz Bousfiha, Hamoud Al-Mousa, Nima Rezaei, Waleed Al-Herz, Raif S. Geha

Summary: Human inborn errors of immunity (IEI) are a diverse group of genetic disorders that primarily affect children and adults. The Middle East and North Africa (MENA) region has a higher prevalence of IEI, possibly due to consanguinity and the prevalence of recessive disorders. The MENA-IEI registry network has developed guidelines to improve diagnosis and treatment, considering the regional expertise and resources.

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE (2023)

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Article Rheumatology

How multisystem inflammatory syndrome in children discriminated from Kawasaki disease: a differentiating score based on an inception cohort study

Ali Sobh, Doaa Mosad Mosa, Nada Khaled, Mai S. Korkor, Mohamed Ahmed Noureldin, Ahmad M. Eita, Marwa H. Elnagdy, Mohammed A. El-Bayoumi

Summary: This study constructed a predictive model based on clinical and laboratory data to differentiate MIS-C from KD, which is valuable in guiding clinical treatment decisions.

CLINICAL RHEUMATOLOGY (2023)

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Article Allergy

IL-4 receptor alpha blockade dampens allergic inflammation and upregulates IL-17A expression to promote S aureus clearance in antigen sensitized mouse skin

Juan -Manuel Leyva-Castillo, Alex Mcgurk, Maria Strakosha, Daniela Vega-Mendoza, Sophia E. M. Smith, Kelsey Stafstrom, Megan Elkins, Janet Chou, Yui-Hsi Wang, Raif S. Geha

Summary: IL-4Ra blockade reduces allergic skin inflammation and promotes the clearance of S aureus strain SF8300 from sites of allergic skin inflammation by enhancing IL-17A expression.

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2023)

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Article Genetics & Heredity

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

Daniela Matuozzo, Estelle Talouarn, Astrid Marchal, Peng Zhang, Jeremy Manry, Yoann Seeleuthner, Yu Zhang, Alexandre Bolze, Matthieu Chaldebas, Baptiste Milisavljevic, Adrian Gervais, Paul Bastard, Takaki Asano, Lucy Bizien, Federica Barzaghi, Hassan Abolhassani, Ahmad Abou Tayoun, Alessandro Aiuti, Ilad Alavi Darazam, Luis M. Allende, Rebeca Alonso-Arias, Andres Augusto Arias, Gokhan Aytekin, Peter Bergman, Simone Bondesan, Yenan T. Bryceson, Ingrid G. Bustos, Oscar Cabrera-Marante, Sheila Carcel, Paola Carrera, Giorgio Casari, Khalil Chaibi, Roger Colobran, Antonio Condino-Neto, Laura E. Covill, Ottavia M. Delmonte, Loubna El Zein, Carlos Flores, Peter K. Gregersen, Marta Gut, Filomeen Haerynck, Rabih Halwani, Selda Hancerli, Lennart Hammarstroem, Nevin Hatipoglu, Adem Karbuz, Sevgi Keles, Christele Kyheng, Rafael Leon-Lopez, Jose Luis Franco, Davood Mansouri, Javier Martinez-Picado, Ozge Metin Akcan, Isabelle Migeotte, Pierre-Emmanuel Morange, Guillaume Morelle, Andrea Martin-Nalda, Giuseppe Novelli, Antonio Novelli, Tayfun Ozcelik, Figen Palabiyik, Qiang Pan-Hammarstroem, Rebeca Perez de Diego, Laura Planas-Serra, Daniel E. Pleguezuelo, Carolina Prando, Aurora Pujol, Luis Felipe Reyes, Jacques G. Riviere, Carlos Rodriguez-Gallego, Julian Rojas, Patrizia Rovere-Querini, Agatha Schlueter, Mohammad Shahrooei, Ali Sobh, Pere Soler-Palacin, Yacine Tandjaoui-Lambiotte, Imran Tipu, Cristina Tresoldi, Jesus Troya, Diederik van de Beek, Mayana Zatz, Pawel Zawadzki, Saleh Zaid Al-Muhsen, Mohammed Faraj Alosaimi, Fahad M. Alsohime, Hagit Baris-Feldman, Manish J. Butte, Stefan N. Constantinescu, Megan A. Cooper, Clifton L. Dalgard, Jacques Fellay, James R. Heath, Yu-Lung Lau, Richard P. Lifton, Tom Maniatis, Trine H. Mogensen, Horst von Bernuth, Alban Lermine, Michel Vidaud, Anne Boland, Jean-Francois Deleuze, Robert Nussbaum, Amanda Kahn-Kirby, France Mentre, Sarah Tubiana, Guy Gorochov, Florence Tubach, Pierre Hausfater, C. O. V. I. D. Human Genetic Effort, Isabelle Meyts, Shen-Ying Zhang, Anne Puel, Luigi D. Notarangelo, Stephanie Boisson-Dupuis, Helen C. Su, Bertrand Boisson, Emmanuelle Jouanguy, Jean-Laurent Casanova, Qian Zhang, Laurent Abel, Aurelie Cobat

Summary: Through a genome-wide rare variant burden association analysis, it was found that there is an association between at-risk variants in the TLR7 gene and rare loss-of-function variants in TLR3-dependent type I interferon immunity genes. These findings suggest that rare variants in TLR3- and TLR7-dependent type I interferon immunity genes may underlie life-threatening COVID-19 in patients under 60 years old.

GENOME MEDICINE (2023)

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Article Public, Environmental & Occupational Health

Gun violence and the voices of youth on community safety in the time of COVID-19 in East Harlem, NY: a youth participatory action research cross-sectional study

Jacqueline G. Wallace, Rachel Chernet, Margaret K. Formica, Olusola Adeonigbagbe, Roseanne L. Flores, Robert Marchesani, Danielle Goldberg, Pamela Wridt, Danielle Laraque-Arena

Summary: This study used a youth participatory action research methodology to explore the relationship between gun violence exposure, gender, and perceptions of children's rights and safety. The results showed that students who witnessed gun violence were more likely to feel unsafe from violence.

INJURY EPIDEMIOLOGY (2023)

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Article Multidisciplinary Sciences

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

Danye Lee, Jeremie Le Pen, Ahmad Yatim, Beihua Dong, Yann Aquino, Masato Ogishi, Remi Pescarmona, Estelle Talouarn, Darawan Rinchai, Peng Zhang, Magali Perret, Zhiyong Liu, Iolanda Jordan, Sefika Elmas Bozdemir, Gulsum Iclal Bayhan, Camille Beaufils, Lucy Bizien, Aurelie Bisiaux, Weite Lei, Milena Hasan, Jie Chen, Christina Gaughan, Abhishek Asthana, Valentina Libri, Joseph M. Luna, Fabrice Jaffre, H. -Heinrich Hoffmann, Eleftherios Michailidis, Marion Moreews, Yoann Seeleuthner, Kaya Bilguvar, Shrikant Mane, Carlos Flores, Yu Zhang, Andres A. Arias, Rasheed Bailey, Agatha Schlueter, Baptiste Milisavljevic, Benedetta Bigio, Tom Le Voyer, Marie Materna, Adrian Gervais, Marcela Moncada-Velez, Francesca Pala, Tomi Lazarov, Romain Levy, Anna-Lena Neehus, Jeremie Rosain, Jessica Peel, Yi-Hao Chan, Marie-Paule Morin, Rosa Maria Pino-Ramirez, Serkan Belkaya, Lazaro Lorenzo, Jordi Anton, Selket Delafontaine, Julie Toubiana, Fanny Bajolle, Victoria Furnado, Marta L. DeDiego, Nadhira Fidouh, Flore Rozenberg, Jordi Perez-Tur, Shuibing Chen, Todd Evans, Frederic Geissmann, Pierre Lebon, Susan R. Weiss, Damien Bonnet, Xavier Duval, Qiang Pan-Hammarstroem, Anna M. Planas, Isabelle Meyts, Filomeen Haerynck, Aurora Pujol, Vanessa Sancho-Shimizu, Clifford L. Dalgard, Jacinta Bustamante, Anne Puel, Stephanie Boisson-Dupuis, Bertrand Boisson, Tom Maniatis, Qian Zhang, Paul Bastard, Luigi Notarangelo, Vivien Beziat, Rebeca Perez de Diego, Carlos Rodriguez-Gallego, Helen C. Su, Richard P. Lifton, Emmanuelle Jouanguy, Aurelie Cobat, Laia Alsina, Sevgi Keles, Elie Haddad, Laurent Abel, Alexandre Belot, Lluis Quintana-Murci, Charles M. Rice, Robert H. Silverman, Shen-Ying Zhang, Jean-Laurent Casanova

SCIENCE (2023)

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Article Medicine, Research & Experimental

Immune dysregulation caused by homozygous mutations in CBLB

Erin Janssen, Zachary Peters, Mohammed F. Alosaimi, Emma Smith, Elena Milin, Kelsey Stafstrom, Jacqueline G. Wallace, Craig D. Platt, Janet Chou, Yasmeen S. El Ansari, Tariq Al Farsi, Najim Ameziane, Ruslan Al-Ali, Maria Calvo, Maria Eugenia Rocha, Peter Bauer, Nouriya Abbas Al-Sannaa, Nashat Faud Al Sukaiti, Abdullah A. Alangari, Aida M. Bertoli-Avella, Raif S. Geha

Summary: CBL-B deficiency has been identified as a cause of immune dysregulation, leading to hyperproliferation and altered function of T cells and B cells in patients. Different mutations in CBLB result in diverse consequences, further impacting cellular functions.

JOURNAL OF CLINICAL INVESTIGATION (2022)

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