Ausgabe 8/2023
Inhalt (59 Artikel)
“The Regimental Pediatrician”: the Finnish Child Refugees and the Temporary Children’s Hospital
Rolf Kostmann
“The Regimental Pediatrician”: the Patients and the Work in the Early Years
Rolf Kostmann
Phenotypic Variability in PRKCD: a Review of the Literature
Lucy Jefferson, Athimalaipet Vaidyanathan Ramanan, Stephen Jolles, Jolanta Bernatoniene, Anne-Laure Mathieu, Alexandre Belot, Marion Ruth Roderick
Infection and Vaccine Induced Spike Antibody Responses Against SARS-CoV-2 Variants of Concern in COVID-19-Naïve Children and Adults
Aleha Pillay, Avani Yeola, Fiona Tea, Martina Denkova, Samuel Houston, Rebecca Burrell, Vera Merheb, Fiona X. Z. Lee, Joseph A. Lopez, Lilly Moran, Ajay Jadhav, Katrina Sterling, Catherine L. Lai, Tennille L. Vitagliano, Anupriya Aggarwal, Dan Catchpoole, Nicholas Wood, Tri Giang Phan, Ralph Nanan, Peter Hsu, Stuart G. Turville, Philip N. Britton, Fabienne Brilot
Both Humoral and Cellular Immune Responses to SARS-CoV-2 Are Essential to Prevent Infection: a Prospective Study in a Working Vaccinated Population from Southern France
Daisy Graça, Vesna Brglez, Jonathan Allouche, Kévin Zorzi, Céline Fernandez, Maxime Teisseyre, Marion Cremoni, Sylvia Benzaken, Christian Pradier, Barbara Seitz-Polski
Hyper-IgD Syndrome: Caused by Deficiency on Ras Prenylation and Trained Immunity?
Rafael Cardoso Maciel Costa Silva
Split Immunological Reconstitution in a NEMO-Deficient Male with Incontinentia Pigmenti and Immunodeficiency
Motoshi Sonoda, Masataka Ishimura, Reina Ogata, Hirotsugu Oda, Shouichi Ohga
Somatic Genetic Reversion of a Duplication Event in IL2RG in Siblings
Patricia dela Cruz, Stacey Rylaarsdam, Troy R. Torgerson, David Hagin, Eric J. Allenspach
A Case Report of Folliculin-Interacting Protein 1 Deficiency
Nidia Moreno-Corona, Alice Valagussa, Romane Thouenon, Alain Fischer, Sven Kracker
Soluble Interleukin-2 Receptor/White Blood Cell Ratio Reflects Granulomatous Disease Progression in Common Variable Immune Deficiency
Astrid C. van Stigt, Virgil A. S. H. Dalm, Nicole M. A. Nagtzaam, P. Martin van Hagen, Willem A. Dik, Hanna IJspeert
Haploidentical Stem Cell Transplantation with Post-transplantation Cyclophosphamide in High-Risk Chronic Granulomatous Disease Patient with Invasive Mucormycosis
D. Ruttens, P. Philippet, Bénédicte Neven, Katrien Lagrou, Despina Moshous, G. Bucciol, I. Meyts
JAK Inhibition with Baricitinib for Severe CVID-Related Enteropathy: a Case Report
Amir Abdelmoumen, Joris van Montfrans, Femke van Wijk, Helen Leavis
Early Diagnosis of Ataxia Telangiectasia Through Newborn Screening for SCID: a Case Report Highlighting the Dilemma of Pre-emptive HSCT
T. J. Weitering, M. A. A. P. Willemsen, A. M. R. Taylor, C. M. R. Weemaes, M. van der Burg, Dagmar Berghuis
APECED Rash as the First Manifestation of APECED Syndrome
Elise M. N. Ferré, Chyi-Chia R. Lee, Heidi H. Kong, Edward W. Cowen, Michail S. Lionakis
Novel IFNGR1 Mutation in a Child with Mycobacterium avium Infection
Qi Luo, Runci Wang, Qiong Fu, Feng Chen, Zhen Tan
Enterobacter cloacae, a Rare Cause of Cervical Lymphadenitis in X-Linked Chronic Granulomatous Disease
Cooper Penner, Rahul Datta, Jefferson Ebube, Neil Romberg
Identification of a Novel Nonsense Mutation in NFKB1 Causing Common Variable Immunodeficiency with Decreased Tfh Cells
Rui Li, Jinjing Qian, Runci Wang, Chunmei Wu, Qiong Fu, Liangjing Lu
Novel ADA2 Variants in a Romanian Case Series of DADA2
Alexis Virgil Cochino, Andreea Ioan, Oana Maria Farkas, Meng Liu, Pui Y. Lee
The Immune Status of Patients with 16p11.2 Deletion Syndrome
Laura A. Wang, Austin Larson, Jordan K. Abbott
Disseminated Histoplasmosis in a Brazilian Patient with G6PD Deficiency Caused by Class I Variant
Ranieri Coelho Salgado, Lillian Nunes Gomes, Tábata Takahashi França, Sarah Maria da Silva Napoleão, Lucila Akune Barreiros, Tiago Santos de Oliveira, Edson Kiyotaka Ishizuka, Janaira Fernandes Severo Ferreira, Antonio Condino-Neto
Chronic Granulomatous Disease: a Cohort of 173 Patients—10-Years Single Center Experience from Egypt
Dalia Abd Elaziz, Rabab EL Hawary, Safa Meshaal, Radwa Alkady, Sohilla Lotfy, Alia Eldash, Aya Erfan, Engy Chohayeb, Mai Saad, Jeannette Boutros, Nermeen Galal, Aisha Elmarsafy
Outcome of Second Allogeneic HSCT for Patients with Inborn Errors of Immunity: Retrospective Study of 20 Years’ Experience
Priti Mehta, Christo Tsilifis, Su Han Lum, Mary A. Slatter, Sophie Hambleton, Stephen Owens, Eleri Williams, Terry Flood, Andrew R. Gennery, Zohreh Nademi
An International Survey of Allogeneic Hematopoietic Cell Transplantation for X-Linked Agammaglobulinemia
Akira Nishimura, Ramya Uppuluri, Revathi Raj, Venkateswaran Vellaichamy Swaminathan, Yifei Cheng, Rolla F. Abu-Arja, Bin Fu, Alexandra Laberko, Michael H. Albert, Fabian Hauck, Giorgia Bucciol, Venetia Bigley, Suzanne Elcombe, Gaurav Kharya, Cornelis Jan H Pronk, Claudia Wehr, Bénédicte Neven, Klaus Warnatz, Isabelle Meyts, Tomohiro Morio, Andrew R. Gennery, Hirokazu Kanegane
Immunologic and Genetic Contributors to CD46-Dependent Immune Dysregulation
Benedikt J Meyer, Natalia Kunz, Sayuri Seki, Rebecca Higgins, Adhideb Ghosh, Robin Hupfer, Adrian Baldrich, Julia R Hirsiger, Annaïse J Jauch, Anne-Valérie Burgener, Jonas Lötscher, Markus Aschwanden, Michael Dickenmann, Mihaela Stegert, Christoph T Berger, Thomas Daikeler, Ingmar Heijnen, Alexander A Navarini, Christoph Rudin, Hiroyuki Yamamoto, Claudia Kemper, Christoph Hess, Mike Recher
Correction to: Immunologic and Genetic Contributors to CD46‑Dependent Immune Dysregulation
Benedikt J Meyer, Natalia Kunz, Sayuri Seki, Rebecca Higgins, Adhideb Ghosh, Robin Hupfer, Adrian Baldrich, Julia R Hirsiger, Annaïse J Jauch, Anne-Valerie Burgener, Jonas Lötscher, Markus Aschwanden, Michael Dickenmann, Mihaela Stegert, Christoph T Berger, Thomas Daikeler, Ingmar Heijnen, Alexander A Navarini, Christoph Rudin, Hiroyuki Yamamoto, Claudia Kemper, Christoph Hess, Mike Recher
Inborn Errors of Immunity—the Sri Lankan Experience 2010–2022
Dhanushka Dasanayake, Jacinta Bustamante, Stéphanie Boisson–Dupuis, Chandima Karunatilleke, James Thambyrajah, Anne Puel, Koon Wing Chan, Rainer Doffinger, Yu-Lung Lau, Jean-Laurent Casanova, Dinakantha Kumararatne, Rajiva de Silva
Screening for Antibody Deficiencies in Adults by Serum Electrophoresis and Calculated Globin
Cristina Frias Sartorelli de Toledo Piza, Carolina Sanchez Aranda, Dirceu Solé, Stephen Jolles, Antonio Condino-Neto
Correction to: Screening for Antibody Deficiencies in Adults by Serum Electrophoresis and Calculated Globulin
Cristina Frias Sartorelli de Toledo Piza, Carolina Sanchez Aranda, Dirceu Solé, Stephen Jolles, Antonio Condino-Neto
Atypical Localization of Eczema Discriminates DOCK8 or STAT3 Deficiencies from Atopic Dermatitis
Nurhan Kasap, Altan Kara, Velat Celik, Sevgi Bilgic Eltan, Idil Akay Haci, Hulya Kose, Ayse Aygun, Emre Akkelle, Nalan Yakici, Sukru Nail Guner, Ismail Reisli, Sevgi Keles, Sukru Cekic, Sara Sebnem Kilic, Neslihan Edeer Karaca, Nesrin Gulez, Ferah Genel, Ahmet Ozen, Ayse Deniz Yucelten, Elif Karakoc-Aydiner, Klaus Schmitz-Abe, Safa Baris
A Clinical Conundrum with Diagnostic and Therapeutic Challenge: a Tale of Two Disorders in One Case
Pallavi Gaikwad, Umair Ahmed Bargir, Shweta Shinde, Pranoti Kini, Rajesh Chaurasia, Usha Yadav, Amruta Dhawale, Merin George, Neha Jodhawat, Priyanka Setia, Disha Vedpathak, Aparna Dalvi, Ankita Parab, Maya Gupta, Reetika Malik Yadav, Mayuri Goriwale, Baburao Vundinti, Nagesh Bhat, B. K. Sapra, Madhumati Otiv, Ratna Sharma, Manisha Madkaikar
Common and Uncommon CT Findings in CVID-Related GL-ILD: Correlations with Clinical Parameters, Therapeutic Decisions and Potential Implications in the Differential Diagnosis
Riccardo Scarpa, Francesco Cinetto, Cinzia Milito, Sabrina Gianese, Valentina Soccodato, Helena Buso, Giulia Garzi, Maria Carrabba, Emanuele Messina, Valeria Panebianco, Carlo Catalano, Giovanni Morana, Vassilios Lougaris, Nicholas Landini, Maria Pia Bondioni
A Narrative Review of the Neurological Manifestations of Human Adenosine Deaminase 2 Deficiency
Mariia Dzhus, Lisa Ehlers, Marjon Wouters, Katrien Jansen, Rik Schrijvers, Lien De Somer, Steven Vanderschueren, Marco Baggio, Leen Moens, Benjamin Verhaaren, Rik Lories, Giorgia Bucciol, Isabelle Meyts
A Novel CDC42 Variant with Impaired Thymopoiesis, IL-7R Signaling, PAK1 Binding, and TCR Repertoire Diversity
Kristian Assing, Sofie E. Jørgensen, Katrine S. Sandgaard, Kerstin De Keukeleere, Marie B.-Hansen, Mikkel S. Petersen, Ulla B. Hartling, Thanis M. K.-de Vaal, Christian Nielsen, Marianne A. Jakobsen, Eleanor Watt, Stuart Adams, Qin Hao, Christina Fagerberg, Trine H. Mogensen
Clinical, Immunological, and Genetic Findings in Iranian Patients with MHC-II Deficiency: Confirmation of c.162delG RFXANK Founder Mutation in the Iranian Population
Mohadese Sadat Mousavi Khorshidi, Yoann Seeleuthner, Zahra Chavoshzadeh, Maryam Behfar, Amir Ali Hamidieh, Hosein Alimadadi, Roya Sherkat, Tooba Momen, Nasrin Behniafard, Shabnam Eskandarzadeh, Mahboubeh Mansouri, Mahdiyeh Behnam, Mohadese Mahdavi, Maryam Heydarazad Zadeh, Mehdi Shokri, Fatemeh Alizadeh, Mahshid Movahedi, Mana Momenilandi, Mohammad Keramatipour, Jean-Laurent Casanova, Aurélie Cobat, Laurent Abel, Mohammad Shahrooei, Nima Parvaneh
Molecular Challenges in the Diagnosis of X-Linked Chronic Granulomatous Disease: CNVs, Intronic Variants, Skewed X-Chromosome Inactivation, and Gonosomal Mosaicism
Laura Batlle-Masó, Jacques G. Rivière, Clara Franco-Jarava, Andrea Martín-Nalda, Marina Garcia-Prat, Alba Parra-Martínez, Aina Aguiló-Cucurull, Neus Castells, Mónica Martinez-Gallo, Pere Soler-Palacín, Roger Colobran
Allogeneic HSCT for Symptomatic Female X-linked Chronic Granulomatous Disease Carriers
Christo Tsilifis, Tuulia Torppa, Eleri J. Williams, Michael H. Albert, Fabian Hauck, Elena Soncini, Elizabeth Kang, Harry Malech, Catharina Schuetz, Horst von Bernuth, Mary A. Slatter, Andrew R. Gennery
Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE Cohort
Hana Grombirikova, Viktor Bily, Premysl Soucek, Michal Kramarek, Roman Hakl, Lucie Ballonova, Barbora Ravcukova, Dita Ricna, Karolina Kozena, Lucie Kratochvilova, Marta Sobotkova, Radana Zachova, Pavel Kuklinek, Pavlina Kralickova, Irena Krcmova, Jana Hanzlikova, Martina Vachova, Olga Krystufkova, Eva Dankova, Milos Jesenak, Martina Novackova, Michal Svoboda, Jiri Litzman, Tomas Freiberger
Severe RAS-Associated Lymphoproliferative Disease Case with Increasing αβ Double-Negative T Cells with Atypical Features
Daisuke Kurita, Norio Shiba, Takashi Ohya, Ayako Murase, Yuko Shimosato, Masahiro Yoshitomi, Seira Hattori, Koji Sasaki, Kenichi Nishimura, Shin-ichi Tsujimoto, Masanobu Takeuchi, Reo Tanoshima, Hirokazu Kanegane, Norihiko Kitagawa, Shuichi Ito
Proteomic Analysis of Pediatric Hemophagocytic Lymphohistiocytosis: a Comparative Study with Healthy Controls, Sepsis, Critical Ill, and Active Epstein-Barr virus Infection to Identify Altered Pathways and Candidate Biomarkers
Xun Li, Ting Luo, Haipeng Yan, Longlong Xie, Yufan Yang, Ling Gong, Zhexuan Tang, Minghui Tang, Xinping Zhang, Jiaotian Huang, Mincui Zheng, Zhenya Yao, Ping Zang, Desheng Zhu, Zhenghui Xiao, Xiulan Lu
A Novel Homozygous Mutation Causing Complete TYK2 Deficiency, with Severe Respiratory Viral Infections, EBV-Driven Lymphoma, and Jamestown Canyon Viral Encephalitis
Lucie Roussel, Anne Pham-Huy, Andrea C. Yu, Sunita Venkateswaran, Anna Perez, Guillaume Bourdel, Yichun Sun, Stephanya Tellez Villavicencio, Stéphane Bernier, Yongbiao Li, Makayla Kazimerczak-Brunet, Rolan Alattar, Marc-André Déry, Adam J. Shapiro, Justin Penner, Donald C. Vinh
Clinical Validation of a Primary Antibody Deficiency Screening Algorithm for Primary Care
Marianne A. Messelink, Paco M. J. Welsing, Giovanna Devercelli, Jan Willem N. Marsden, Helen L. Leavis
Peripheral T Cell Populations are Differentially Affected in Familial Mediterranean Fever, Chronic Granulomatous Disease, and Gout
Burcu Al, Mariolina Bruno, Rutger J. Röring, Simone J. C. F. M. Moorlag, Tsz Kin Suen, Viola Klück, Ruiqi Liu, Priya A. Debisarun, Orsolya Gaal, Jaydeep Bhat, Dieter Kabelitz, Frank L. van de Veerdonk, Leo A.B. Joosten, Mihai G. Netea, Katarzyna Placek
Tuberculosis and Bacillus Calmette-Guérin Disease in Patients with Chronic Granulomatous Disease: an Experience from a Tertiary Care Center in North India
Pandiarajan Vignesh, Archan Sil, Ridhima Aggarwal, Wrik Laha, Sanjib Mondal, Manpreet Dhaliwal, Saniya Sharma, Rakesh Kumar Pilania, Ankur Kumar Jindal, Deepti Suri, Sunil Sethi, Amit Rawat, Surjit Singh
Neurologic Status of Patients with Purine Nucleoside Phosphorylase Deficiency Before and After Hematopoetic Stem Cell Transplantation
Betul Gemici Karaaslan, Isilay Turan, Sezin Aydemir, Zeynep Akyuncu Meric, Didem Atay, Arzu Akcay, Aysun Ayaz Sari, Michael Hershfield, Funda Cipe, Basak Adakli Aksoy, Gizem Zengin Ersoy, Ceyhun Bozkurt, Yasemin Kendir Demirkol, Gulyuz Ozturk, Cigdem Aydogmus, Ayca Kiykim, Haluk Cokugras
Functional Relevance of CTLA4 Variants: an Upgraded Approach to Assess CTLA4-Dependent Transendocytosis by Flow Cytometry
Jessica Rojas-Restrepo, Elena Sindram, Simon Zenke, Hanna Haberstroh, Noriko Mitsuiki, Annemarie Gabrysch, Katrin Huebscher, Sara Posadas-Cantera, Máté Krausz, Robin Kobbe, Jan C. Rohr, Bodo Grimbacher, Laura Gámez-Díaz
Correction to: Functional Relevance of CTLA4 Variants: an Upgraded Approach to Assess CTLA4‑Dependent Transendocytosis by Flow Cytometry
Jessica Rojas‑Restrepo, Elena Sindram, Simon Zenke, Hanna Haberstroh, Noriko Mitsuiki, Annemarie Gabrysch, Katrin Huebscher, Sara Posadas‑Cantera, Máté Krausz, Robin Kobbe, Jan C. Rohr, Bodo Grimbacher, Laura Gamez‑Diaz
Rituximab Monotherapy Is Effective as First-Line Treatment for Granulomatous Lymphocytic Interstitial Lung Disease (GLILD) in CVID Patients
Giulio Tessarin, Manuela Baronio, Luisa Gazzurelli, Stefano Rossi, Marco Chiarini, Daniele Moratto, Silvia Clara Giliani, Maria Pia Bondioni, Raffaele Badolato, Vassilios Lougaris
Missed Opportunities to Diagnose Common Variable Immunodeficiency: a Population-Based Case–Control Study Identifying Indicator Diseases for Common Variable Immunodeficiency
Christina Dahl, Inge Petersen, Frederik V. Ilkjær, Lena Westh, Terese L. Katzenstein, Ann-Brit E. Hansen, Thyge L. Nielsen, Carsten S. Larsen, Isik S. Johansen, Line D. Rasmussen
Antibody Deficiency in Patients with Biallelic KARS1 Mutations
Francesco Saettini, Fabiola Guerra, Grazia Fazio, Cristina Bugarin, Hugh J McMillan, Akira Ohtake, Anna Ardissone, Masayuki Itoh, Sabrina Giglio, Gerarda Cappuccio, Giuliana Giardino, Roberta Romano, Manuel Quadri, Serena Gasperini, Daniele Moratto, Marco Chiarini, Ishiguro Akira, Yasuyuki Fukuhara, Itaru Hayakawa, Yasushi Okazaki, Mario Mauri, Rocco Piazza, Gianni Cazzaniga, Andrea Biondi
Correction to: Antibody Deficiency in Patients with Biallelic KARS1 Mutations
Francesco Saettini, Fabiola Guerra, Grazia Fazio, Cristina Bugarin, Hugh J. McMillan, Akira Ohtake, Anna Ardissone, Masayuki Itoh, Sabrina Giglio, Gerarda Cappuccio, Giuliana Giardino, Roberta Romano, Manuel Quadri, Serena Gasperini, Daniele Moratto, Marco Chiarini, Akira Ishiguro, Yasuyuki Fukuhara, Itaru Hayakawa, Yasushi Okazaki, Mario Mauri, Rocco Piazza, Gianni Cazzaniga, Andrea Biondi
Effects of Body Mass and Age on the Pharmacokinetics of Subcutaneous or Hyaluronidase-facilitated Subcutaneous Immunoglobulin G in Primary Immunodeficiency Diseases
Zhaoyang Li, Kristin Follman, Ed Freshwater, Frank Engler, Leman Yel
Bone Marrow Failure and Immunodeficiency Associated with Human RAD50 Variants
Masatoshi Takagi, Akihiro Hoshino, Kristine Bousset, Jule Röddecke, Hanna Luisa Martin, Iulia Folcut, Dan Tomomasa, Xi Yang, Junya Kobayashi, Naoki Sakata, Kenichi Yoshida, Satoru Miyano, Seishi Ogawa, Seiji Kojima, Tomohiro Morio, Thilo Dörk, Hirokazu Kanegane
Tocilizumab as a Potential Adjunctive Therapy to Corticosteroids in Cryptococcal Post-infectious Inflammatory Response Syndrome (PIIRS): a Report of Two Cases
Jessica C. Hargarten, Seher H. Anjum, Kenneth Ssebambulidde, Yoon-Dong Park, Malcolm J. Vaughan, Terri L. Scott, Dima A. Hammoud, Bridgette Jeanne Billioux, Peter R. Williamson
Lung Transplantation under a Janus Kinase Inhibitor in Three Patients with SAVI Syndrome
Kenza Rhzioual Berrada, Alexandre Belot, Bénédicte Neven, Camille Ohlmann, François Tronc, Gillian Rice, Guillaume Thouvenin, Jean-Christophe Dubus, Julie Mazenq, Marie-Louise Frémond, Nathalie Stremler, Séverine Soummer-Feuillet, Vincent Cottin, Philippe Reix
An Atypical Incontinentia Pigmenti Female with Persistent Mucocutaneous Hyperinflammation and Immunodeficiency Caused by a Novel Germline IKBKG Missense Mutation
Wenjun Mou, Zhipeng Zhao, Liwei Gao, Libing Fu, Jia Li, Anxia Jiao, Yun Peng, Tong Yu, Yan Guo, Lanqin Chen, Hao Wang, Jun Liu, Qiang Qin, Baoping Xu, Xiuyun Liu, Jianxin He, Jingang Gui
Evaluating Drug Prescription Patterns in Undiagnosed Common Variable Immunodeficiency Patients
Frederik V. Ilkjær, Isik S. Johansen, Raquel Martin-Iguacel, Lena Westh, Terese L. Katzenstein, Ann-Brit E. Hansen, Thyge L. Nielsen, Carsten S. Larsen, Line D. Rasmussen
A Nationwide Study of GATA2 Deficiency in Italy Reveals Novel Symptoms and Genotype–phenotype Association
Samuele Roncareggi, Katia Girardi, Francesca Fioredda, Lucia Pedace, Luca Arcuri, Raffaele Badolato, Sonia Bonanomi, Erika Borlenghi, Emilia Cirillo, Tiziana Coliva, Filippo Consonni, Francesca Conti, Piero Farruggia, Eleonora Gambineri, Fabiola Guerra, Franco Locatelli, Gaia Mancuso, Antonio Marzollo, Riccardo Masetti, Concetta Micalizzi, Daniela Onofrillo, Matteo Piccini, Claudio Pignata, Marco Gabriele Raddi, Valeria Santini, Francesca Vendemini, Andrea Biondi, Francesco Saettini
Respiratory Comorbidities Associated with Bronchiectasis in Patients with Common Variable Immunodeficiency in the USIDNET Registry
Oscar Correa-Jimenez, Sonia Restrepo-Gualteros, Gustavo Nino, Charlotte Cunningham-Rundles, Kathleen E. Sullivan, Ramsay L. Fuleihan, Maria J. Gutierrez