Issue 8/2020
Content (25 Articles)
Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy
Satoshi Okada, Takaki Asano, Kunihiko Moriya, Stephanie Boisson-Dupuis, Masao Kobayashi, Jean-Laurent Casanova, Anne Puel
Immune Alterations in a Patient with SARS-CoV-2-Related Acute Respiratory Distress Syndrome
Lila Bouadma, Aurélie Wiedemann, Juliette Patrier, Mathieu Surénaud, Paul-Henri Wicky, Emile Foucat, Jean-Luc Diehl, Boris P. Hejblum, Fabrice Sinnah, Etienne de Montmollin, Christine Lacabaratz, Rodolphe Thiébaut, J. F. Timsit, Yves Lévy
A Nonsense N –Terminus NFKB2 Mutation Leading to Haploinsufficiency in a Patient with a Predominantly Antibody Deficiency
Hye Sun Kuehn, Andrea Bernasconi, Julie E. Niemela, Maria Belen Almejun, William Alexander Franco Gallego, Shubham Goel, Jennifer L. Stoddard, Ronald Guillermo Peláez Sánchez, Carlos Andrés Arango Franco, Matías Oleastro, Eyal Grunebaum, Zuhair Ballas, Charlotte Cunningham-Rundles, Thomas A. Fleisher, José Luis Franco, Silvia Danielian, Sergio D. Rosenzweig
Correction to: A Nonsense N –Terminus NFKB2 Mutation Leading to Haploinsufficiency in a Patient with a Predominantly Antibody Deficiency
Hye Sun Kuehn, Andrea Bernasconi, Julie E. Niemela, Maria Belen Almejun, William Alexander Franco Gallego, Shubham Goel, Jennifer L. Stoddard, Ronald Guillermo Peláez Sánchez, Carlos Andrés Arango Franco, Matías Oleastro, Eyal Grunebaum, Zuhair Ballas, Charlotte Cunningham-Rundles, Thomas A. Fleisher, José Luis Franco, Silvia Danielian, Sergio D. Rosenzweig
Clinical and Immunological Characterization of Combined Immunodeficiency Due to TFRC Mutation in Eight Patients
Amal H. Aljohani, Hamoud Al-Mousa, Rand Arnaout, Hasan Al-Dhekri, Reem Mohammed, Zobaida Alsum, Manal Nicolas-Jilwan, Fayhan Alrogi, Saleh Al-Muhsen, Anas M. Alazami, Bandar Al-Saud
Case Report: Acute Thrombotic Microangiopathy in a Patient with STING-Associated Vasculopathy with Onset in Infancy (SAVI)
Mia Ma, Samia Mazumder, Hannah Kwak, Matthew Adams, Melissa Gregory
Hematopoietic Stem Cell Transplantation in Children with Inborn Errors of Immunity: a Multi-center Experience in Colombia
Manuela Olaya, Alexis Franco, Mauricio Chaparro, Marcela Estupiñan, David Aristizabal, Natalia Builes-Restrepo, José L Franco, Andrés F Zea-Vera, Mayra Estacio, Eliana Manzi, Estefania Beltran, Paola Perez, Jaime Patiño, Harry Pachajoa, Diego Medina-Valencia
Adenosine Deaminase (ADA)–Deficient Severe Combined Immune Deficiency (SCID) in the US Immunodeficiency Network (USIDNet) Registry
Caroline Y. Kuo, Elizabeth Garabedian, Jennifer Puck, Morton J. Cowan, Kathleen E. Sullivan, Rebecca H. Buckley, Charlotte Cunningham-Rundles, Rebecca Marsh, Fabio Candotti, Donald B. Kohn
Helicobacter cinaedi-Associated Refractory Cellulitis in Patients with X-Linked Agammaglobulinemia
Kento Inoue, Saeko Sasaki, Takahiro Yasumi, Kohsuke Imai, Takashi Kusunoki, Tomohiro Morio, Hirokazu Kanegane
Long-Term Survival after Progressive Multifocal Leukoencephalopathy in a Patient with Primary Immune Deficiency and NFKB1 Mutation
Emke Maréchal, Karolien Beel, Roel Crols, Danielle Hernalsteen, Barbara Willekens
Nocardiosis Associated with Primary Immunodeficiencies (Nocar-DIP): an International Retrospective Study and Literature Review
Emmanuel Lafont, Beatriz E. Marciano, Nizar Mahlaoui, Bénédicte Neven, Jacinta Bustamante, Veronica Rodriguez-Nava, Amit Rawat, Miren Josebe Unzaga, Alain Fischer, Stéphane Blanche, Olivier Lortholary, Steven M. Holland, David Lebeaux
Heterozygous TLR3 Mutation in Patients with Hantavirus Encephalitis
Terhi Partanen, Jie Chen, Johanna Lehtonen, Outi Kuismin, Harri Rusanen, Olli Vapalahti, Antti Vaheri, Veli-Jukka Anttila, Michaela Bode, Nina Hautala, Tytti Vuorinen, Virpi Glumoff, Minna Kraatari, Pirjo Åström, Janna Saarela, Heikki Kauma, Lazaro Lorenzo, Jean-Laurent Casanova, Shen-Ying Zhang, Mikko Seppänen, Timo Hautala
Phenoidentical HLA-Related Hematopoietic Stem Cell Transplant Without Conditioning to Reconstitute a Patient with a Putative Loss-of-Function CARD11 Mutation
Bashayer Al-Rasheed, Anas M. Alazami, Hamoud Al-Mousa
Disseminated Mycobacterium xenopi in an Adult with IL-12Rβ1 Deficiency
Boaz Palterer, Filippo Bartalesi, Alessio Mazzoni, Laura Maggi, Aldesia Provenzano, Federica Vergoni, Sabrina Giglio, Francesco Annunziato, Paola Parronchi
Non-Tuberculous Mycobacterial Infection in Hematopoietic Cell Transplant
Anthony Sabulski, Stella M. Davies, Grant Paulsen, Ashish Kumar, Michael Grimley, Sharat Chandra
X-Linked Thrombocytopenia and Vanishing White Matter Disease in a Child: Double Tragedy
Rakesh Kumar Pilania, Gummadi Anjani, Arushi Gahlot Saini, Romit Jain, Deepti Suri, Amit Rawat
Neurologic Conditions and Symptoms Reported Among Common Variable Immunodeficiency Patients in the USIDNET
Michael Lee, Jenna Nguyen, Ramsay Fuleihan, Katherine Gundling, Charlotte Cunningham-Rundles, Iris M. Otani
Refractory Autoimmune Cytopenia in a Young Boy with a Novel LRBA Mutation Successfully Managed with Sirolimus
Aaqib Zaffar Banday, Ankur Kumar Jindal, Rahul Tyagi, Shagun Singh, Pratap Kumar Patra, Yashwant Kumar, Deepti Suri, Amit Rawat
DNA Ligase IV Deficiency Identified by Chance Following Vaccine-Derived Rubella Virus Infection
Kazuaki Matsumoto, Akihiro Hoshino, Akira Nishimura, Tamaki Kato, Yoshio Mori, Masaki Shimomura, Chie Naito, Kenichiro Watanabe, Minoru Hamazaki, Noriko Mitsuiki, Masatoshi Takagi, Kohsuke Imai, Shigeaki Nonoyama, Hirokazu Kanegane, Tomohiro Morio
Successful Hematopoietic Stem Cell Transplantation in a Patient with Complete IFN-γ Receptor 2 Deficiency: a Case Report and Literature Review
Pier-Angelo Tovo, Silvia Garazzino, Francesco Saglio, Carlo Scolfaro, Jacinta Bustamante, Raffaele Badolato, Franca Fagioli
A Cry for the Development of Newborn Screening for Familial Hemophagocytic Lymphohistiocytosis
Akihiro Hoshino, Yang Xi, Tomohei Nakao, Keisuke Kato, Satoshi Fujiyama, Katsuyoshi Koh, Toshihiko Imamura, Hirokazu Kanegane
Spontaneous Gastrointestinal Perforations in STAT3-Deficient Hyper-IgE Syndrome
Sumona Bhattacharya, Hastings Williamson, Amanda K. Urban, Theo Heller, Alexandra F. Freeman
A Case of Burkholderia Prostatitis in a Patient with Chronic Granulomatous Disease
Sameer Bahal, Nisha Verma, Susan Tadros, David M. Lowe, Siobhan O. Burns
Ruxolitinib Controls Lymphoproliferation and Diabetes in a STAT3-GOF Patient
Oliver Wegehaupt, Tina Muckenhaupt, Matthew B Johnson, Karl Otfried Schwab, Carsten Speckmann
Correction: Chronic Granulomatous Disease-Associated IBD Resolves and Does Not Adversely Impact Survival Following Allogeneic HCT
Rebecca A. Marsh, Jennifer W. Leiding, Brent R. Logan, Linda M. Griffith, Danielle E. Arnold, Elie Haddad, E. Liana Falcone, Ziyan Yin, Kadam Patel, Erin Arbuckle, Jack J. Bleesing, Kathleen E. Sullivan, Jennifer Heimall, Lauri M. Burroughs, Suzanne Skoda-Smith, Shanmuganathan Chandrakasan, Lolie C. Yu, Benjamin R. Oshrine, Geoffrey D. E. Cuvelier, Monica S. Thakar, Karin Chen, Pierre Teira, Shalini Shenoy, Rachel Phelan, Lisa R. Forbes, Caridad Martinez, Deepak Chellapandian, Blachy J. Dávila Saldaña, Ami J. Shah, Katja G. Weinacht, Avni Joshi, Farid Boulad, Troy C. Quigg, Christopher C. Dvorak, Debi Grossman, Troy Torgerson, Pamela Graham, Vinod Prasad, Alan Knutsen, Hey Chong, Holly Miller, M. Teresa de la Morena, Kenneth DeSantes, Morton J. Cowan, Luigi D. Notarangelo, Donald B. Kohn, Elizabeth Stenger, Sung-Yun Pai, John M. Routes, Jennifer M. Puck, Neena Kapoor, Michael A. Pulsipher, Harry L. Malech, Suhag Parikh, Elizabeth M. Kang