Issue 7/2023
Content (23 Articles)
Inherited STAT1 Deficiency in a Child with BCG-osis and Severe COVID-19 Pneumonia
Mame Sokhna Guèye, Mame Téné Ndiaye-Diop, Tom Le Voyer, Camille Soudée, Idrissa Demba Ba, Awa Kane, Indou Dème-Ly, Joséphine Khady Badiane-Seye, Anne-Sophie L’Honneur, Abdoul Aziz Diallo, Ousmane Ndiaye, Macoura Gadji, Qian Zhang, Souleymane Mboup, Jean-Laurent Casanova, Jacinta Bustamante, Tandakha Ndiaye Dièye
Impact of COVID-19 Pandemic on Clinical Care of Patients and Psychosocial Health of Affected Families with Chronic Granulomatous Disease: an Observational Study from North India
Pandiarajan Vignesh, Rajni Sharma, Prabal Barman, Sanjib Mondal, Jhumki Das, Sangeetha Siniah, Taru Goyal, Saniya Sharma, Rakesh Kumar Pilania, Ankur Kumar Jindal, Deepti Suri, Amit Rawat, Surjit Singh
New Insights on the Mechanisms of Myocardial Injury in Hypertensive Patients With COVID-19
Renata Moll-Bernardes, Juliana R. Ferreira, Eduardo B. Schaustz, Andréa S. Sousa, João D. Mattos, Mariana B. Tortelly, Adriana L. Pimentel, Ana Cristina B. S. Figueiredo, Marcia M. Noya-Rabelo, Sergio Fortier, Flavia A. Matos e Silva, Narendra Vera, Luciana Conde, Mauro Jorge Cabral-Castro, Denilson C. Albuquerque, Paulo Henrique Rosado-de-Castro, Gabriel C. Camargo, Martha V. T. Pinheiro, Daniele O. L. Freitas, Ana M. Pittella, José Afonso M. Araújo, André C. Marques, Elias P. Gouvêa, Flavia V. O. Terzi, Cleverson N. Zukowski, Ronaldo A. O. C. Gismondi, Bruno S. Bandeira, Renée S. Oliveira, Barbara E. J. Abufaiad, Jacqueline S. S. Miranda, Luiz Guilherme Miranda, Olga F. Souza, Fernando A. Bozza, Ronir R. Luiz, Emiliano Medei
COVID-19 Adenoviral Vector Vaccination Elicits a Robust Memory B Cell Response with the Capacity to Recognize Omicron BA.2 and BA.5 Variants
Holly A. Fryer, Gemma E. Hartley, Emily S. J. Edwards, Nirupama Varese, Irene Boo, Scott J. Bornheimer, P. Mark Hogarth, Heidi E. Drummer, Robyn E. O’Hehir, Menno C. van Zelm
Immunoglobulin Replacement Therapy During COVID-19 Pandemic: Practical and Psychological Impact in Patients with Antibody Deficiency
Jesmeen Maimaris, Anjel O’Sullivan, Isabella Underhill, Ghiselle Green, Andrew Symes, David Lowe, Siobhan Burns, Mari Campbell, Reem Elfeky
Dupilumab for Post-Hematopoietic Cell Transplantation Dermatitis in Wiskott-Aldrich Syndrome
Dikla Adir, Tal Freund, Amit Dotan, Jacob Mashiah, David Hagin
ZNFX1 Deficiency in a Child with Interstitial Pneumonitis and Peripheral Monocytosis
Bandar Al-Saud, Ibrahim Al-Mogarri, Huda Alajlan, Fadia Alkhattabi, Ali Al-Ahmari, Mohammed Alowain, Turki Alshareef, Monther Al-Alwan, Anas M. Alazami
Hemizygous BTK Gene Variant Causing X-Linked Agammaglobulinemia in Two Siblings
Narjes Saheb Sharif-Askari, Shirin Hafezi, Fatemeh Saheb Sharif-Askari, Naomi Frommenwiler, Rabih Halwani
Cutaneous Eruption Associated with Sirolimus in a Child with FAS-Associated Autoimmune Lymphoproliferative Syndrome
James Trayer, Fiona Browne, Maureen O’Sullivan, Timothy Ronan Leahy
Late-Onset Lymphopenia and ITP in a Patient with Hyper IgM Syndrome Due to a Homozygous Variant in AICDA
Adil Adatia, Bruce Ritchie
Inherited CD19 Deficiency Does Not Impair Plasma Cell Formation or Response to CXCL12
Kieran Walker, Anoop Mistry, Christopher M. Watson, Fatima Nadat, Eleanor O’Callaghan, Matthew Care, Laura A. Crinnion, Gururaj Arumugakani, David T. Bonthron, Clive Carter, Gina M. Doody, Sinisa Savic
Safety and Efficacy of Hizentra® Following Pediatric Hematopoietic Cell Transplant for Treatment of Primary Immunodeficiencies
Niraj C. Patel, Troy Torgerson, Monica S. Thakar, M. Elizabeth M. Younger, Panida Sriaroon, Tamara C. Pozos, Rebecca H. Buckley, David Morris, Diana Vilkama, Jennifer Heimall
New Dominant-Negative IL6ST Variants Expand the Immunological and Clinical Spectrum of GP130-Dependent Hyper-IgE Syndrome
Tiphaine Arlabosse, Marie Materna, Orbicia Riccio, Caroline Schnider, Federica Angelini, Matthieu Perreau, Isabelle Rochat, Andrea Superti-Furga, Belinda Campos-Xavier, Sébastien Héritier, Anaïs Pereira, Caroline Deswarte, Romain Lévy, Marco Distefano, Jacinta Bustamante, Marie Roelens, Raphaël Borie, Mathilde Le Brun, Bruno Crestani, Jean-Laurent Casanova, Anne Puel, Michaël Hofer, Claire Fieschi, Katerina Theodoropoulou, Vivien Béziat, Fabio Candotti
Clinical Symptoms, Laboratory Parameters and Long-Term Follow-up in a National DADA2 Cohort
Marie Valérie E. Andriessen, G. Elizabeth Legger, Robbert G. M. Bredius, Marielle E. van Gijn, A. Elisabeth Hak, Petra C. E. Hissink Muller, Sylvia Kamphuis, Femke C. C. Klouwer, Taco W. Kuijpers, Helen L. Leavis, Stefan Nierkens, Abraham Rutgers, Lars T. van der Veken, Gijs T. J. van Well, Catharina M. Mulders-Manders, Joris M. van Montfrans
Brainstem Infarction in Immunodeficiency Identified as Adenosine Deaminase 2 Deficiency: Case Report
Christoph Oster, Benjamin Stolte, Livia Asan, Refik Pul, Stephan Klebe, Martin Köhrmann, Katharina Breuckmann, Christoph Rischpler, Cornelius Deuschl, Sebastian Dolff, Christoph Kleinschnitz, Tim Hagenacker
Improved Outcome Following Busulfan-Based Conditioning in Children with Functional Neutrophil Disorders Undergoing Hematopoietic Stem Cell Transplant from HLA-Matched Donors
Elad Jacoby, Etai Adam, Daphna Hutt, Raz Somech, Sarah Malkiel, Amos Toren, Bella Bielorai
Autosomal Dominant STAT6 Gain of Function Causes Severe Atopy Associated with Lymphoma
Ekaterina Minskaia, Jesmeen Maimaris, Persephone Jenkins, Adriana S. Albuquerque, Ying Hong, Despina Eleftheriou, Kimberly C. Gilmour, Richard Grace, Fernando Moreira, Bodo Grimbacher, Zoe Adhya, Hana Alachkar, Ariharan Anantharachagan, Richard Antrobus, Gururaj Arumugakani, Chiara Bacchelli, Helen Baxendale, Claire Bethune, Shahnaz Bibi, Barbara Boardman, Claire Booth, Michael Browning, Mary Brownlie, Siobhan Burns, Anita Chandra, Hayley Clifford, Nichola Cooper, Sophie Davies, John Dempster, Lisa Devlin, Rainer Doffinger, Elizabeth Drewe, David Edgar, William Egner, Tariq El-Shanawany, Bobby Gaspar, Rohit Ghurye, Kimberley Gilmour, Sarah Goddard, Pavel Gordins, Sofia Grigoriadou, Scott Hackett, Rosie Hague, Lorraine Harper, Grant Hayman, Archana Herwadkar, Stephen Hughes, Aarnoud Huissoon, Stephen Jolles, Julie Jones, Peter Kelleher, Nigel Klein, Taco Kuijpers, Dinakantha Kumararatne, James Laffan, Hana Lango Allen, Sara Lear, Hilary Longhurst, Lorena Lorenzo, Jesmeen Maimaris, Ania Manson, Elizabeth McDermott, Hazel Millar, Anoop Mistry, Valerie Morrisson, Sai Murng, Iman Nasir, Sergey Nejentsev, Sadia Noorani, Eric Oksenhendler, Mark Ponsford, Waseem Qasim, Ellen Quinn, Isabella Quinti, Alex Richter, Crina Samarghitean, Ravishankar Sargur, Sinisa Savic, Suranjith Seneviratne, Carrock Sewall, Fiona Shackley, Ilenia Simeoni, Kenneth G. C. Smith, Emily Staples, Hans Stauss, Cathal Steele, James Thaventhiran, Moira Thomas, Adrian Thrasher, Steve Welch, Lisa Willcocks, Sarita Workman, Austen Worth, Nigel Yeatman, Patrick Yong, Sofie Ashford, John Bradley, Debra Fletcher, Tracey Hammerton, Roger James, Nathalie Kingston, Willem Ouwehand, Christopher Penkett, F. Lucy Raymond, Kathleen Stirrups, Marijke Veltman, Tim Young, Matthew Brown, Naomi Clements-Brod, John Davis, Eleanor Dewhurst, Marie Erwood, Amy Frary, Rachel Linger, Jennifer Martin, Sofia Papadia, Karola Rehnstrom, William Astle, Antony Attwood, Marta Bleda, Keren Carss, Louise Daugherty, Sri Deevi, Stefan Graf, Daniel Greene, Csaba Halmagyi, Matthias Haimel, Fengyuan Hu, Vera Matser, Stuart Meacham, Karyn Megy, Olga Shamardina, Catherine Titterton, Salih Tuna, Ernest Turro, Ping Yu, Julie von Ziegenweldt, Abigail Furnell, Rutendo Mapeta, Simon Staines, Jonathan Stephens, Deborah Whitehorn, Paula Rayner-Matthews, Christopher Watt, Emma C. Morris, Siobhan O. Burns
Purine Nucleoside Phosphorylase Deficient Severe Combined Immunodeficiencies: A Case Report and Systematic Review (1975–2022)
Syarifah Masyitah Habib Dzulkarnain, Ilie Fadzilah Hashim, Zarina Thasneem Zainudeen, Fahisham Taib, Norsarwany Mohamad, Ariffin Nasir, Wan Suriana Wan Ab Rahman, Hany Ariffin, Intan Juliana Abd Hamid
Neutrophils in STAT1 Gain-Of-Function Have a Pro-inflammatory Signature Which Is Not Rescued by JAK Inhibition
Zuzana Parackova, Petra Vrabcova, Irena Zentsova, Anna Sediva, Marketa Bloomfield
Characteristics and Outcomes of Anti-interferon Gamma Antibody-Associated Adult Onset Immunodeficiency
Bingqing Zhang, Junpin Fan, Chengjing Huang, Hongwei Fan, Jialin Chen, Xiaoming Huang, Xuejun Zeng
Correction to: PEGylated Recombinant Adenosine Deaminase Maintains Detoxification and Lymphocyte Counts in Patients with ADA-SCID
Morna J. Dorsey, Arye Rubinstein, Heather Lehman, Tracy Fausnight, Joseph M. Wiley, Elie Haddad
Correction to: IL-27 is Elevated in Acute Lung Injury and Mediates Inflammation
Fang Xu, Qiong Liu, Shihui Lin, Na Shen, Yibing Yin, Ju Cao
Correction to: New Dominant‑Negative IL6ST Variants Expand the Immunological and Clinical Spectrum of GP130‑Dependent Hyper‑IgE Syndrome
Tiphaine Arlabosse, Marie Materna, Orbicia Riccio, Caroline Schnider, Federica Angelini, Matthieu Perreau, Isabelle Rochat, Andrea Superti-Furga, Belinda Campos-Xavier, Sébastien Héritier, Anaïs Pereira, Caroline Deswarte, Romain Lévy, Marco Distefano, Jacinta Bustamante, Marie Roelens, Raphaël Borie, Mathilde Le Brun, Bruno Crestani, Jean‑Laurent Casanova, Anne Puel, Michaël Hofer, Claire Fieschi, Katerina Theodoropoulou, Vivien Béziat, Fabio Candotti