Ausgabe 1/2021
Inhalt (42 Artikel)
IKAROS-Associated Diseases in 2020: Genotypes, Phenotypes, and Outcomes in Primary Immune Deficiency/Inborn Errors of Immunity
Hye Sun Kuehn, Cristiane J. Nunes-Santos, Sergio D. Rosenzweig
Circulating Levels of Interleukin-6 and Interleukin-10, But Not Tumor Necrosis Factor-Alpha, as Potential Biomarkers of Severity and Mortality for COVID-19: Systematic Review with Meta-analysis
Wanvisa Udomsinprasert, Jiraphun Jittikoon, Sermsiri Sangroongruangsri, Usa Chaikledkaew
Recovery from COVID-19 in a Child with Chronic Granulomatous Disease and T Cell Lymphopenia
Vasudha Mantravadi, Suong T. Nguyen, S. Celeste Morley, Jeffrey J. Bednarski, Maleewan Kitcharoensakkul, Megan A. Cooper
IFN-α2a Therapy in Two Patients with Inborn Errors of TLR3 and IRF3 Infected with SARS-CoV-2
Romain Lévy, Paul Bastard, Fanny Lanternier, Marc Lecuit, Shen-Ying Zhang, Jean-Laurent Casanova
Correction to: IFN-α2a Therapy in Two Patients with Inborn Errors of TLR3 and IRF3 Infected with SARS-CoV-2
Romain Lévy, Paul Bastard, Fanny Lanternier, Marc Lecuit, Shen-Ying Zhang, Jean-Laurent Casanova
Relationship Between Severity of T Cell Lymphopenia and Immune Dysregulation in Patients with DiGeorge Syndrome (22q11.2 Deletions and/or Related TBX1 Mutations): a USIDNET Study
Deepti R. Deshpande, Yesim Y. Demirdag, Rebecca A. Marsh, Kathleen E. Sullivan, Jordan S. Orange
Infections in Infants with SCID: Isolation, Infection Screening, and Prophylaxis in PIDTC Centers
Morna J. Dorsey, Nicola A. M. Wright, Natalia S. Chaimowitz, Blachy J. Dávila Saldaña, Holly Miller, Michael D. Keller, Monica S. Thakar, Ami J. Shah, Rolla Abu-Arja, Jeffrey Andolina, Victor Aquino, J. L. Barnum, Jeffrey J. Bednarski, Monica Bhatia, Francisco A. Bonilla, Manish J. Butte, Nancy J. Bunin, Sharat Chandra, Sonali Chaudhury, Karin Chen, Hey Chong, Geoffrey D. E. Cuvelier, Jignesh Dalal, Magee L. DeFelice, Kenneth B. DeSantes, Lisa R. Forbes, Alfred Gillio, Fred Goldman, Avni Y. Joshi, Neena Kapoor, Alan P. Knutsen, Lisa Kobrynski, Jay A. Lieberman, Jennifer W. Leiding, Benjamin Oshrine, Kiran P. Patel, Susan Prockop, Troy C. Quigg, Ralph Quinones, Kirk R. Schultz, Christine Seroogy, David Shyr, Subhadra Siegel, Angela R. Smith, Troy R. Torgerson, Mark T. Vander Lugt, Lolie C. Yu, Morton J. Cowan, Rebecca H. Buckley, Christopher C. Dvorak, Linda M. Griffith, Elie Haddad, Donald B. Kohn, Brent Logan, Luigi D. Notarangelo, Sung-Yun Pai, Jennifer Puck, Michael A. Pulsipher, Jennifer Heimall
Clinical Spectrum of Ras-Associated Autoimmune Leukoproliferative Disorder (RALD)
Quentin Neven, Cécile Boulanger, Annelyse Bruwier, Maëlle de Ville de Goyet, Isabelle Meyts, Leen Moens, An Van Damme, Bénédicte Brichard
Novel Frameshift Autosomal Recessive Loss-of-Function Mutation in SMARCD2 Encoding a Chromatin Remodeling Factor Mediates Granulopoiesis
Esra Yucel, Ibrahim Serhat Karakus, Ana Krolo, Ayca Kiykim, Raul Jimenez Heredia, Zeynep Tamay, Funda Erol Cipe, Elif Karakoc-Aydiner, Ahmet Ozen, Serap Karaman, Kaan Boztug, Safa Baris
Safety and Tolerability of Manual Push Administration of Subcutaneous IgPro20 at High Infusion Rates in Patients with Primary Immunodeficiency: Findings from the Manual Push Administration Cohort of the HILO Study
Juthaporn Cowan, Vincent R. Bonagura, Patricia L. Lugar, Paul J. Maglione, Niraj C. Patel, Donald C. Vinh, Jutta H. Hofmann, Michaela Praus, Mikhail A. Rojavin
Variable Abnormalities in T and B Cell Subsets in Ataxia Telangiectasia
Tannaz Moeini Shad, Bahman Yousefi, Parisa Amirifar, Samaneh Delavari, William Rae, Parviz Kokhaei, Hassan Abolhassani, Asghar Aghamohammadi, Reza Yazdani
Experience with a Reduced Toxicity Allogeneic Transplant Regimen for Non-CGD Primary Immune Deficiencies Requiring Myeloablation
Sharat Chandra, Shanmuganathan Chandrakasan, Blachy J. Dávila Saldaña, Jack J. Bleesing, Michael B. Jordan, Ashish R. Kumar, Michael S. Grimley, Christa Krupski, Stella M. Davies, Pooja Khandelwal, Rebecca A. Marsh
Parents’ Perspectives and Societal Acceptance of Implementation of Newborn Screening for SCID in the Netherlands
Maartje Blom, Robbert G. M. Bredius, Marleen E. Jansen, Gert Weijman, Evelien A. Kemper, Clementien L. Vermont, Iris H. I. M. Hollink, Willem A. Dik, Joris M. van Montfrans, Mariëlle E. van Gijn, Stefanie S. Henriet, Koen J. van Aerde, Wouter Koole, Arjan C. Lankester, Eugènie H. B. M. Dekkers, Peter C. J. I. Schielen, Martine C. de Vries, Lidewij Henneman, Mirjam van der Burg
STK4 Deficiency Impairs Innate Immunity and Interferon Production Through Negative Regulation of TBK1-IRF3 Signaling
Sofie E. Jørgensen, Ali Al-Mousawi, Kristian Assing, Ulla Hartling, Dorthe Grosen, Niels Fisker, Christian Nielsen, Marianne A. Jakobsen, Trine H. Mogensen
IRAK4 Deficiency Presenting with Anti-NMDAR Encephalitis and HHV6 Reactivation
Shiho Nishimura, Yoshiyuki Kobayashi, Hidenori Ohnishi, Kunihiko Moriya, Miyuki Tsumura, Sonoko Sakata, Yoko Mizoguchi, Hidetoshi Takada, Zenichiro Kato, Vanessa Sancho-Shimizu, Capucine Picard, Sarosh R. Irani, Osamu Ohara, Jean-Laurent Casanova, Anne Puel, Nobutsune Ishikawa, Satoshi Okada, Masao Kobayashi
Developmental Adaptive Immune Defects Associated with STAT5B Deficiency in Three Young Siblings
Corinne L. Foley, Sareea S. Al Remeithi, Christopher T. Towe, Andrew Dauber, Philippe F. Backeljauw, Leah Tyzinski, Ashish R. Kumar, Vivian Hwa
Bacillus Calmette–Guerin (BCG) Vaccine-associated Complications in Immunodeficient Patients Following Stem Cell Transplantation
Adeeb NaserEddin, Yael Dinur-Schejter, Bella Shadur, Irina Zaidman, Ehud Even-Or, Diana Averbuch, Oded Shamriz, Yuval Tal, Avraham Shaag, Klaus Warnatz, Orly Elpeleg, Polina Stepensky
Hereditary Angioedema with and Without C1-Inhibitor Deficiency in Postmenopausal Women
Aurore Billebeau, Olivier Fain, David Launay, Isabelle Boccon-Gibod, Laurence Bouillet, Delphine Gobert, Geneviève Plu-Bureau, Anne Gompel
Outcome of Non-hematological Autoimmunity After Hematopoietic Cell Transplantation in Children with Primary Immunodeficiency
Su Han Lum, Reem Elfeky, Federica R. Achini, Adriana Margarit-Soler, Bianca Cinicola, Inigo Perez-Heras, Zohreh Nademi, Terry Flood, Tim Cheetham, Austen Worth, Waseem Qasim, Rakesh Amin, Kanchan Rao, Robert Chiesa, Robbert G. M. Bredius, Persis Amrolia, Mario Abinun, Sophie Hambleton, Paul Veys, Andrew R. Gennery, Arjan Lankester, Mary Slatter
Infections in Patients with Chronic Granulomatous Disease Treated with Tumor Necrosis Factor Alpha Blockers for Inflammatory Complications
Anne Conrad, Bénédicte Neven, Nizar Mahlaoui, Felipe Suarez, Harry Sokol, Frank M. Ruemmele, Claire Rouzaud, Despina Moshous, Olivier Lortholary, Stéphane Blanche, Fanny Lanternier
Seasonal Influenza Vaccine: Uptake, Attitude, and Knowledge Among Patients Receiving Immunoglobulin Replacement Therapy
Fionnuala Cox, Catherine King, Anne Sloan, David J. Edgar, Niall Conlon
Persistent Unexplained Transaminitis in COPA Syndrome
Silpa S. Thaivalappil, Andrea S. Garrod, Stephen M. Borowitz, Levi B. Watkin, Monica G. Lawrence
Deforming Polyarthritis in a North Indian Family—Clinical Expansion of STING-Associated Vasculopathy with Onset in Infancy (SAVI)
Gummadi Anjani, Ankur Kumar Jindal, Ashwini Prithvi, Anit Kaur, Amit Rawat, Madhubala Sharma, Bo Yuan, Ivan K. Chinn, Surjit Singh
JAK Inhibition in a Patient with X-Linked Reticulate Pigmentary Disorder
Corinne Légeret, Benedikt J. Meyer, Annette Rovina, Nikolaus Deigendesch, Christoph T. Berger, Thomas Daikeler, Ingmar Heijnen, Ezra Burstein, Henrik Köhler, Mike Recher
Unusual Prominent Pulmonary Involvement in a Homozygous PRF1 Gene Variant in a Female Patient
Fahad Alsohime, Talal Almaghamsi, Talal A. Basha, Hosam Alardati, Malak Alghamdi, Yousef Mohammed Hawsawi
Immunodeficiency Disease Spectrum in HIV-Negative Individuals with Talaromycosis
Ye Qiu, Xin Feng, Wen Zeng, Hui Zhang, Jianquan Zhang
Expanding the Clinical Phenotype of Chronic Granulomatous Disease: a Female Patient with a De Novo Mutation in CYBB
Eveline Y. Wu, Hye Sun Kuehn, Sergio D. Rosenzweig, Ivona Aksentijevich, Diana B. McShane
Haemolytic Uremic Syndrome Associated with Citrobacter freundii in a Young Boy with X-Linked Agammaglobulinemia
Murugan Sudhakar, Manpreet Arora, Lesa Dawman, Dharmagat Bhattarai, Pratap Kumar Patra, Madhubala Sharma, Ankur Kumar Jindal, Ritambhra Nada, Amit Rawat, Karalanglin Tiewsoh
Common Variable Immunodeficiency with the Concomitant Diagnosis of an Inflammatory Myofibroblastic Tumor
Craig Sewell, Phuong Daniels, Jason Cottrell, Robert Hostoffer
A Distinct Feature of T Cell Subpopulations in a Patient with CHARGE Syndrome and Omenn Syndrome
Toru Uchiyama, Saori Kawakami, Hiroshi Masuda, Kazue Yoshida, Hironori Niizeki, Emi Mochizuki, Kaori Edasawa, Akira Ishiguro, Masafumi Onodera
Haematopoietic Stem Cell Transplantation for DNA Ligase 1 Deficiency
Juliana M. F. Silva, Alison Jones, Keith Sibson, Shahnaz Bibi, Penny Jeggo, Lisa Woodbine, Gulrukh Ahsan, Kimberly C. Gilmour, Kanchan Rao, Robert Chiesa, Giovanna Lucchini, Paul Veys, Austen Worth, Persis J. Amrolia
Cytomegalovirus Laryngitis in Primary Combined Immunodeficiency Diseases
Maiko Inoue, Takeshi Isoda, Motoi Yamashita, Takahiro Tomoda, Kento Inoue, Tsubasa Okano, Teppei Ohkawa, Akifumi Endo, Noriko Mitsuiki, Takahiro Kamiya, Masakatsu Yanagimachi, Kouhei Yamamoto, Yuichiro Inaba, Toru Sasaki, Masatoshi Takagi, Hirokazu Kanegane, Kohsuke Imai, Tomohiro Morio
Deep Intronic SERPING1 Gene Variants: Ending One Odyssey and Starting Another?
Anastasios E. Germenis, Sofia Vatsiou, Dorottya Csuka, Maria Zamanakou, Henriette Farkas
A Patient with Novel ICOS Mutation Presented with Progressive Loss of B Cells
Asena Pınar Sefer, Louis Marie Charbonnier, Nurhan Kasap, Bengu Akcam, Yasemin Kendir Demirkol, Sevgi Bilgic Eltan, Ahmet Ozen, Elif Karakoc-Aydiner, Safa Baris
CADINS in an Adult with Chronic Sinusitis and Atopic Disease
Neema Izadi, Bradly M. Bauman, Gina Dabbah, Timothy J. Thauland, Manish J. Butte, Andrew L. Snow, Joseph A. Church
MSMD in a 3-Generation Multiplex Kindred Due to Autosomal Dominant STAT1 Deficiency
Sagar Bhattad, Jeeson Unni, Sonny Varkey
The J Daughter Siberia Project
Irina Tuzankina, Mikhail Bolkov, Umida Nabieva, István Lázár, László Maródi
A Novel CYBB Variant Causing X-Linked Chronic Granulomatous Disease in a Patient with Empyema
Maleewan Kitcharoensakkul, Zhimin Song, Jeffrey J Bednarski, Mary Dinauer
POLD1 Deficiency Reveals a Role for POLD1 in DNA Repair and T and B Cell Development
Diana X. Nichols-Vinueza, Ottavia M. Delmonte, Vanessa Bundy, Marita Bosticardo, Michael T. Zimmermann, Nikita R. Dsouza, Francesca Pala, Kerry Dobbs, Jennifer Stoddard, Julie E. Niemela, Hye Sun Kuehn, Michael D. Keller, Cesar M. Rueda, Roshini S. Abraham, Raul Urrutia, Sergio D. Rosenzweig, Luigi D. Notarangelo
Anti-IFN-γ Immunodeficiency Syndrome Presenting as Blurred Vision and Salmonellosis
Shu-Yu Peng, Ta-Ching Chen, Un-In Wu, Chien-Jung Huang, Tzyy-Chang Ho
A Novel Case of Complement Factor B Deficiency
Amélie Gauthier, Eric Wagner, Roseline Thibeault, Aubert Lavoie
Pathogenic TLR3 Variant in a Patient with Recurrent Herpes Simplex Virus 1–Triggered Erythema Multiforme
Giorgia Bucciol, Selket Delafontaine, Leen Moens, Anniek Corveleyn, Marie-Anne Morren, Isabelle Meyts