-
Je něco špatně v tomto záznamu ?
Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects
C. Schwab, A. Gabrysch, P. Olbrich, V. Patiño, K. Warnatz, D. Wolff, A. Hoshino, M. Kobayashi, K. Imai, M. Takagi, I. Dybedal, JA. Haddock, DM. Sansom, JM. Lucena, M. Seidl, A. Schmitt-Graeff, V. Reiser, F. Emmerich, N. Frede, A. Bulashevska, U....
Jazyk angličtina Země Spojené státy americké
Typ dokumentu časopisecké články, práce podpořená grantem
Grantová podpora
R01 AI085090
NIAID NIH HHS - United States
R34 AI106570
NIAID NIH HHS - United States
BB/H013598/1
Biotechnology and Biological Sciences Research Council - United Kingdom
K08 CA219473
NCI NIH HHS - United States
P01 AI061093
NIAID NIH HHS - United States
NV15-30626A
MZ0
CEP - Centrální evidence projektů
- MeSH
- antigen CTLA-4 genetika MeSH
- dítě MeSH
- dospělí MeSH
- fenotyp MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mutace MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- syndromy imunologické nedostatečnosti diagnostické zobrazování genetika terapie MeSH
- Check Tag
- dítě MeSH
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
BACKGROUND: Cytotoxic T-lymphocyte antigen 4 (CTLA-4) is a negative immune regulator. Heterozygous CTLA4 germline mutations can cause a complex immune dysregulation syndrome in human subjects. OBJECTIVE: We sought to characterize the penetrance, clinical features, and best treatment options in 133 CTLA4 mutation carriers. METHODS: Genetics, clinical features, laboratory values, and outcomes of treatment options were assessed in a worldwide cohort of CTLA4 mutation carriers. RESULTS: We identified 133 subjects from 54 unrelated families carrying 45 different heterozygous CTLA4 mutations, including 28 previously undescribed mutations. Ninety mutation carriers were considered affected, suggesting a clinical penetrance of at least 67%; median age of onset was 11 years, and the mortality rate within affected mutation carriers was 16% (n = 15). Main clinical manifestations included hypogammaglobulinemia (84%), lymphoproliferation (73%), autoimmune cytopenia (62%), and respiratory (68%), gastrointestinal (59%), or neurological features (29%). Eight affected mutation carriers had lymphoma, and 3 had gastric cancer. An EBV association was found in 6 patients with malignancies. CTLA4 mutations were associated with lymphopenia and decreased T-, B-, and natural killer (NK) cell counts. Successful targeted therapies included application of CTLA-4 fusion proteins, mechanistic target of rapamycin inhibitors, and hematopoietic stem cell transplantation. EBV reactivation occurred in 2 affected mutation carriers after immunosuppression. CONCLUSIONS: Affected mutation carriers with CTLA-4 insufficiency can present in any medical specialty. Family members should be counseled because disease manifestation can occur as late as 50 years of age. EBV- and cytomegalovirus-associated complications must be closely monitored. Treatment interventions should be coordinated in clinical trials.
Center of Pediatric Surgery Hannover Medical School Hannover Germany
Clinical Immunology and Allergy Unit Nottingham University Hospitals Nottingham United Kingdom
Department of Clinical Immunology and Allergology St Anne's University Hospital Brno Czech Republic
Department of Clinical Immunology and Allergy Royal Melbourne Hospital Melbourne Australia
Department of Hematology Oslo University Hospital Oslo Norway
Department of Immunology University Hospital Zurich University of Zurich Zurich Switzerland
Department of Internal Medicine 1 University Medical Center Schleswig Holstein Kiel Germany
Department of Internal Medicine 3 University Hospital Regensburg Regensburg Germany
Department of Internal Medicine Radboudumc Center for Infectious Diseases Nijmegen The Netherlands
Department of Paediatric Gastroenterology Great North Children's Hospital Newcastle United Kingdom
Department of Pathology University Medical Center University of Freiburg Freiburg Germany
Department of Pediatric Pneumology Allergy and Neonatology Hannover Medical School Hannover Germany
Department of Pediatrics University Hospital Jena Jena Germany
Department of Pediatrics University Medical Center Ulm Ulm Germany
Department of Radiology Royal Free Hospital University College London London United Kingdom
Division of Gastroenterology and Department of Pediatrics Harvard Medical School Boston Mass
Division of Immunology University Children's Hospital Zurich University of Zurich Zurich Switzerland
HELIOS Children's Hospital Krefeld Germany
Immunology Team American Insurance Montevideo Uruguay
Institute of Clinical Molecular Biology Christian Albrechts University of Kiel Kiel Germany
Institute of Immunology University Hospital Heidelberg Heidelberg Germany
Medical Genomics RG Central European Institute of Technology Masaryk University Brno Czech Republic
Section of Allergy and Clinical Immunology Yale University School of Medicine New Haven Conn
Spemann Graduate School of Biology and Medicine Freiburg University Freiburg Germany
UCL Institute of Immunity and Transplantation Royal Free Hospital London United Kingdom
University of Manchester Royal Manchester Children's Hospital Manchester United Kingdom
Citace poskytuje Crossref.org
- 000
- 00000naa a2200000 a 4500
- 001
- bmc19035267
- 003
- CZ-PrNML
- 005
- 20191015115012.0
- 007
- ta
- 008
- 191007s2018 xxu f 000 0|eng||
- 009
- AR
- 024 7_
- $a 10.1016/j.jaci.2018.02.055 $2 doi
- 035 __
- $a (PubMed)29729943
- 040 __
- $a ABA008 $b cze $d ABA008 $e AACR2
- 041 0_
- $a eng
- 044 __
- $a xxu
- 100 1_
- $a Schwab, Charlotte $u Center for Chronic Immunodeficiency (CCI), Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
- 245 10
- $a Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects / $c C. Schwab, A. Gabrysch, P. Olbrich, V. Patiño, K. Warnatz, D. Wolff, A. Hoshino, M. Kobayashi, K. Imai, M. Takagi, I. Dybedal, JA. Haddock, DM. Sansom, JM. Lucena, M. Seidl, A. Schmitt-Graeff, V. Reiser, F. Emmerich, N. Frede, A. Bulashevska, U. Salzer, D. Schubert, S. Hayakawa, S. Okada, M. Kanariou, ZY. Kucuk, H. Chapdelaine, L. Petruzelkova, Z. Sumnik, A. Sediva, M. Slatter, PD. Arkwright, A. Cant, HM. Lorenz, T. Giese, V. Lougaris, A. Plebani, C. Price, KE. Sullivan, M. Moutschen, J. Litzman, T. Freiberger, FL. van de Veerdonk, M. Recher, MH. Albert, F. Hauck, S. Seneviratne, J. Pachlopnik Schmid, A. Kolios, G. Unglik, C. Klemann, C. Speckmann, S. Ehl, A. Leichtner, R. Blumberg, A. Franke, S. Snapper, S. Zeissig, C. Cunningham-Rundles, L. Giulino-Roth, O. Elemento, G. Dückers, T. Niehues, E. Fronkova, V. Kanderová, CD. Platt, J. Chou, TA. Chatila, R. Geha, E. McDermott, S. Bunn, M. Kurzai, A. Schulz, L. Alsina, F. Casals, A. Deyà-Martinez, S. Hambleton, H. Kanegane, K. Taskén, O. Neth, B. Grimbacher,
- 520 9_
- $a BACKGROUND: Cytotoxic T-lymphocyte antigen 4 (CTLA-4) is a negative immune regulator. Heterozygous CTLA4 germline mutations can cause a complex immune dysregulation syndrome in human subjects. OBJECTIVE: We sought to characterize the penetrance, clinical features, and best treatment options in 133 CTLA4 mutation carriers. METHODS: Genetics, clinical features, laboratory values, and outcomes of treatment options were assessed in a worldwide cohort of CTLA4 mutation carriers. RESULTS: We identified 133 subjects from 54 unrelated families carrying 45 different heterozygous CTLA4 mutations, including 28 previously undescribed mutations. Ninety mutation carriers were considered affected, suggesting a clinical penetrance of at least 67%; median age of onset was 11 years, and the mortality rate within affected mutation carriers was 16% (n = 15). Main clinical manifestations included hypogammaglobulinemia (84%), lymphoproliferation (73%), autoimmune cytopenia (62%), and respiratory (68%), gastrointestinal (59%), or neurological features (29%). Eight affected mutation carriers had lymphoma, and 3 had gastric cancer. An EBV association was found in 6 patients with malignancies. CTLA4 mutations were associated with lymphopenia and decreased T-, B-, and natural killer (NK) cell counts. Successful targeted therapies included application of CTLA-4 fusion proteins, mechanistic target of rapamycin inhibitors, and hematopoietic stem cell transplantation. EBV reactivation occurred in 2 affected mutation carriers after immunosuppression. CONCLUSIONS: Affected mutation carriers with CTLA-4 insufficiency can present in any medical specialty. Family members should be counseled because disease manifestation can occur as late as 50 years of age. EBV- and cytomegalovirus-associated complications must be closely monitored. Treatment interventions should be coordinated in clinical trials.
- 650 _2
- $a mladiství $7 D000293
- 650 _2
- $a dospělí $7 D000328
- 650 _2
- $a senioři $7 D000368
- 650 _2
- $a senioři nad 80 let $7 D000369
- 650 _2
- $a antigen CTLA-4 $x genetika $7 D060908
- 650 _2
- $a dítě $7 D002648
- 650 _2
- $a ženské pohlaví $7 D005260
- 650 _2
- $a lidé $7 D006801
- 650 _2
- $a syndromy imunologické nedostatečnosti $x diagnostické zobrazování $x genetika $x terapie $7 D007153
- 650 _2
- $a mužské pohlaví $7 D008297
- 650 _2
- $a lidé středního věku $7 D008875
- 650 _2
- $a mutace $7 D009154
- 650 _2
- $a fenotyp $7 D010641
- 650 _2
- $a mladý dospělý $7 D055815
- 655 _2
- $a časopisecké články $7 D016428
- 655 _2
- $a práce podpořená grantem $7 D013485
- 700 1_
- $a Gabrysch, Annemarie $u Center for Chronic Immunodeficiency (CCI), Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
- 700 1_
- $a Olbrich, Peter $u Sección de Infectología e Inmunopatología, Unidad de Pediatría, Hospital Virgen del Rocío/Instituto de Biomedicina de Sevilla (IBiS), Seville, Spain.
- 700 1_
- $a Patiño, Virginia $u Immunology Team, American Insurance, Montevideo, Uruguay.
- 700 1_
- $a Warnatz, Klaus $u Center for Chronic Immunodeficiency (CCI), Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
- 700 1_
- $a Wolff, Daniel $u Department of Internal Medicine III, University Hospital Regensburg, Regensburg, Germany.
- 700 1_
- $a Hoshino, Akihiro $u Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan.
- 700 1_
- $a Kobayashi, Masao $u Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, Hiroshima, Japan.
- 700 1_
- $a Imai, Kohsuke $u Department of Community Pediatrics, Perinatal and Maternal Medicine, Tokyo Medical and Dental University, Tokyo, Japan.
- 700 1_
- $a Takagi, Masatoshi $u Department of Community Pediatrics, Perinatal and Maternal Medicine, Tokyo Medical and Dental University, Tokyo, Japan.
- 700 1_
- $a Dybedal, Ingunn $u Department of Hematology, Oslo University Hospital, Oslo, Norway.
- 700 1_
- $a Haddock, Jamanda A $u Department of Radiology, Royal Free Hospital, University College London, London, United Kingdom.
- 700 1_
- $a Sansom, David M $u UCL Institute of Immunity and Transplantation, Royal Free Hospital, London, United Kingdom.
- 700 1_
- $a Lucena, Jose M $u Unidad de Inmunología, Hospital Universitario Virgen del Rocío/Instituto de Biomedicina de Sevilla (IBiS), Seville, Spain.
- 700 1_
- $a Seidl, Maximilian $u Center for Chronic Immunodeficiency and Molecular Pathology, Department of Pathology, University Medical Center, University of Freiburg, Freiburg, Germany.
- 700 1_
- $a Schmitt-Graeff, Annette $u Department of Pathology, University Medical Center, University of Freiburg, Freiburg, Germany.
- 700 1_
- $a Reiser, Veronika $u Center for Chronic Immunodeficiency (CCI), Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Institute of Medical Biometry and Statistics, Faculty of Medicine and Medical Center - University of Freiburg, Freiburg, Germany.
- 700 1_
- $a Emmerich, Florian $u Institute for Transfusion Medicine and Gene Therapy, University Medical Center Freiburg, Freiburg, Germany.
- 700 1_
- $a Frede, Natalie $u Center for Chronic Immunodeficiency (CCI), Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
- 700 1_
- $a Bulashevska, Alla $u Center for Chronic Immunodeficiency (CCI), Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
- 700 1_
- $a Salzer, Ulrich $u Center for Chronic Immunodeficiency (CCI), Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
- 700 1_
- $a Schubert, Desirée $u Center for Chronic Immunodeficiency (CCI), Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Spemann Graduate School of Biology and Medicine, Freiburg University, Freiburg, Germany.
- 700 1_
- $a Hayakawa, Seiichi $u Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, Hiroshima, Japan.
- 700 1_
- $a Okada, Satoshi $u Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, Hiroshima, Japan.
- 700 1_
- $a Kanariou, Maria $u Department of Immunology and Histocompatibility, Centre for Primary Immunodeficiencies, "Aghia Sophia" Children's Hospital, Athens, Greece.
- 700 1_
- $a Kucuk, Zeynep Yesim $u Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati, Children's Hospital Medical Center, Cincinnati, Ohio.
- 700 1_
- $a Chapdelaine, Hugo $u Department of Medicine, Clinical Immunology and Allergy Division, Centre Hospitalier de l'Université de Montréal (CHUM), Université de Montréal, Montreal, Quebec, Canada.
- 700 1_
- $a Petruzelkova, Lenka $u Department of Pediatrics, University Hospital Motol and 2nd Faculty of Medicine, Charles University in Prague, Prague, Czech Republic.
- 700 1_
- $a Sumnik, Zdenek $u Department of Pediatrics, University Hospital Motol and 2nd Faculty of Medicine, Charles University in Prague, Prague, Czech Republic.
- 700 1_
- $a Sediva, Anna $u Department of Immunology, University Hospital Motol and 2nd Faculty of Medicine, Charles University in Prague, Prague, Czech Republic.
- 700 1_
- $a Slatter, Mary $u Great North Children's Hospital, Newcastle upon Tyne Hospitals NHS Foundation Trust, and Institute of Cellular Medicine, Newcastle University, Newcastle, United Kingdom.
- 700 1_
- $a Arkwright, Peter D $u University of Manchester, Royal Manchester Children's Hospital, Manchester, United Kingdom.
- 700 1_
- $a Cant, Andrew $u Great North Children's Hospital, Newcastle upon Tyne Hospitals NHS Foundation Trust, and Institute of Cellular Medicine, Newcastle University, Newcastle, United Kingdom.
- 700 1_
- $a Lorenz, Hanns-Martin $u Division of Rheumatology, Department of Internal Medicine V, University of Heidelberg, Heidelberg, Germany.
- 700 1_
- $a Giese, Thomas $u Institute of Immunology, University Hospital Heidelberg, Heidelberg, Germany.
- 700 1_
- $a Lougaris, Vassilios $u Pediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, ASST-Spedali Civili of Brescia, Brescia, Italy.
- 700 1_
- $a Plebani, Alessandro $u Pediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, ASST-Spedali Civili of Brescia, Brescia, Italy.
- 700 1_
- $a Price, Christina $u Section of Allergy and Clinical Immunology, Yale University School of Medicine, New Haven, Conn.
- 700 1_
- $a Sullivan, Kathleen E $u Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pa.
- 700 1_
- $a Moutschen, Michel $u Department of Infectious Diseases and General Internal Medicine, University Hospital of Liège, Liege, Belgium.
- 700 1_
- $a Litzman, Jiri $u Department of Clinical Immunology and Allergology, Medical Faculty, Masaryk University, Brno, Czech Republic; Department of Clinical Immunology and Allergology, St Anne's University Hospital, Brno, Czech Republic.
- 700 1_
- $a Freiberger, Tomas $u Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation, Brno, Czech Republic; Medical Genomics RG, Central European Institute of Technology, Masaryk University, Brno, Czech Republic.
- 700 1_
- $a van de Veerdonk, Frank L $u Department of Internal Medicine, Radboudumc Center for Infectious Diseases (RCI), Nijmegen, The Netherlands.
- 700 1_
- $a Recher, Mike $u Immunodeficiency Clinic, Medical Outpatient Unit and Immunodeficiency Lab, Department Biomedicine, University Hospital, Basel, Switzerland.
- 700 1_
- $a Albert, Michael H $u Department of Pediatric Immunology and Stem Cell Transplantation, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-Universität, Munich, Germany.
- 700 1_
- $a Hauck, Fabian $u Department of Pediatric Immunology and Stem Cell Transplantation, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-Universität, Munich, Germany.
- 700 1_
- $a Seneviratne, Suranjith $u Institute of Immunology and Transplantation, Royal Free Hospital, University College London, London, United Kingdom.
- 700 1_
- $a Pachlopnik Schmid, Jana $u Division of Immunology, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.
- 700 1_
- $a Kolios, Antonios $u Department of Immunology, University Hospital Zurich, University of Zurich, Zurich, Switzerland.
- 700 1_
- $a Unglik, Gary $u Department of Clinical Immunology and Allergy, Royal Melbourne Hospital, Melbourne, Australia.
- 700 1_
- $a Klemann, Christian $u Center for Chronic Immunodeficiency (CCI), Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Department of Pediatric Pneumology, Allergy and Neonatology, Hannover Medical School, Hannover, Germany; Center of Pediatric Surgery, Hannover Medical School, Hannover, Germany.
- 700 1_
- $a Speckmann, Carsten $u Center for Chronic Immunodeficiency (CCI), Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Center for Pediatrics, University Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
- 700 1_
- $a Ehl, Stephan $u Center for Chronic Immunodeficiency (CCI), Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
- 700 1_
- $a Leichtner, Alan $u Division of Gastroenterology and Department of Pediatrics, Harvard Medical School, Boston, Mass.
- 700 1_
- $a Blumberg, Richard $u Division of Gastroenterology, Hepatology and Endoscopy, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Mass.
- 700 1_
- $a Franke, Andre $u Institute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, Kiel, Germany.
- 700 1_
- $a Snapper, Scott $u Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Department of Medicine, Children's Hospital Boston, Mass.
- 700 1_
- $a Zeissig, Sebastian $u Division of Gastroenterology, Hepatology and Endoscopy, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Mass; Department of Medicine I, University Medical Center Dresden, Technical University Dresden, Dresden, Germany; Department of Internal Medicine I, University Medical Center Schleswig-Holstein, Kiel, Germany.
- 700 1_
- $a Cunningham-Rundles, Charlotte $u Mount Sinai Hospital, Mount Sinai St Luke's and Mount Sinai West, Department of Medicine-Allergy & Immunology, New York, NY.
- 700 1_
- $a Giulino-Roth, Lisa $u Department of Pediatrics, Division of Pediatric Hematology/Oncology, Weill Cornell Medicine, New York, NY.
- 700 1_
- $a Elemento, Olivier $u Institute for Computational Biomedicine, Department of Physiology and Biophysics, Weill Cornell Medical College, New York, NY.
- 700 1_
- $a Dückers, Gregor $u HELIOS Children's Hospital, Krefeld, Germany.
- 700 1_
- $a Niehues, Tim $u HELIOS Children's Hospital, Krefeld, Germany.
- 700 1_
- $a Fronkova, Eva $u CLIP, Department of Paediatric Haematology/Oncology, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic.
- 700 1_
- $a Kanderová, Veronika $u CLIP, Department of Paediatric Haematology/Oncology, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic.
- 700 1_
- $a Platt, Craig D $u Division of Immunology, Boston Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, Mass.
- 700 1_
- $a Chou, Janet $u Division of Immunology, Boston Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, Mass.
- 700 1_
- $a Chatila, Talal A $u Division of Immunology, Boston Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, Mass.
- 700 1_
- $a Geha, Raif $u Division of Immunology, Boston Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, Mass.
- 700 1_
- $a McDermott, Elizabeth $u Clinical Immunology and Allergy Unit, Nottingham University Hospitals, Nottingham, United Kingdom.
- 700 1_
- $a Bunn, Su $u Department of Paediatric Gastroenterology, Great North Children's Hospital, Newcastle, United Kingdom.
- 700 1_
- $a Kurzai, Monika $u Department of Pediatrics, University Hospital Jena, Jena, Germany.
- 700 1_
- $a Schulz, Ansgar $u Department of Pediatrics, University Medical Center Ulm, Ulm, Germany.
- 700 1_
- $a Alsina, Laia $u Allergy and Clinical Immunology Department, Functional Unit of Immunology SJD-Clinic, Hospital Sant Joan de Déu, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Esplugues de Llobregat, Spain.
- 700 1_
- $a Casals, Ferran $u Servei de Genòmica, Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, Parc de Recerca Biomèdica de Barcelona, Barcelona, Spain.
- 700 1_
- $a Deyà-Martinez, Angela $u Allergy and Clinical Immunology Department, Functional Unit of Immunology SJD-Clinic, Hospital Sant Joan de Déu, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Esplugues de Llobregat, Spain.
- 700 1_
- $a Hambleton, Sophie $u Great North Children's Hospital, Newcastle upon Tyne Hospitals NHS Foundation Trust, and Institute of Cellular Medicine, Newcastle University, Newcastle, United Kingdom.
- 700 1_
- $a Kanegane, Hirokazu $u Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan.
- 700 1_
- $a Taskén, Kjetil $u Centre for Molecular Medicine Norway, Nordic EMBL Partnership, University of Oslo and Institute for Cancer Research, University Hospital Oslo, Oslo, Norway.
- 700 1_
- $a Neth, Olaf $u Sección de Infectología e Inmunopatología, Unidad de Pediatría, Hospital Virgen del Rocío/Instituto de Biomedicina de Sevilla (IBiS), Seville, Spain.
- 700 1_
- $a Grimbacher, Bodo $u Center for Chronic Immunodeficiency (CCI), Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Institute of Immunology and Transplantation, Royal Free Hospital, University College London, London, United Kingdom. Electronic address: bodo.grimbacher@uniklinik-freiburg.de.
- 773 0_
- $w MED00002505 $t The Journal of allergy and clinical immunology $x 1097-6825 $g Roč. 142, č. 6 (2018), s. 1932-1946
- 856 41
- $u https://pubmed.ncbi.nlm.nih.gov/29729943 $y Pubmed
- 910 __
- $a ABA008 $b sig $c sign $y a $z 0
- 990 __
- $a 20191007 $b ABA008
- 991 __
- $a 20191015115437 $b ABA008
- 999 __
- $a ok $b bmc $g 1451927 $s 1073817
- BAS __
- $a 3
- BAS __
- $a PreBMC
- BMC __
- $a 2018 $b 142 $c 6 $d 1932-1946 $e 20180504 $i 1097-6825 $m Journal of allergy and clinical immunology $n J Allergy Clin Immunol $x MED00002505
- GRA __
- $a R01 AI085090 $p NIAID NIH HHS $2 United States
- GRA __
- $a R34 AI106570 $p NIAID NIH HHS $2 United States
- GRA __
- $a BB/H013598/1 $p Biotechnology and Biological Sciences Research Council $2 United Kingdom
- GRA __
- $a K08 CA219473 $p NCI NIH HHS $2 United States
- GRA __
- $a P01 AI061093 $p NIAID NIH HHS $2 United States
- GRA __
- $a NV15-30626A $p MZ0
- LZP __
- $a Pubmed-20191007
