换一批
第一作者：
Ainsley V C,Knox
第一单位：
Division of Immunology and Allergy, Children's Hospital of Philadelphia, Philadelphia, PA.
作者：
Ainsley V C,Knox [1]
;
Lauren Y,Cominsky [2]
;
Di,Sun [1]
;
Emylette,Cruz Cabrera [1]
;
Brian E,Nolan [3]
;
Edann,Ofray [1]
;
Elisa,Benetti [4]
;
Camilla,Visconti [5]
;
Federica,Barzaghi [6]
;
Sergio D,Rosenzweig [7]
;
Monica G,Lawrence [8]
;
Kathleen E,Sullivan [9]
;
Samuel,Yoon [1]
;
Suzanna,Rachimi [2]
;
Nurcicek,Padem [10]
;
Erin,Conboy [11]
;
Maja,Stojanovic [12]
;
Gordana,Petrovic [13]
;
Srdjan,Pasic [14]
;
Joseph,Church [15]
;
Ronald M,Ferdman [15]
;
Fabio,Candotti [16]
;
Tiphaine,Arlabosse [17]
;
Katerina,Theodoropoulou [17]
;
Cullen M,Dutmer [18]
;
László,Maródi [19]
;
Gabriella,Szücs [20]
;
Arnon,Broides [21]
;
Amit,Nahum [21]
;
Jacov,Levy [21]
;
Kaisa,Kettunen [22]
;
Ravindra,Daddali [23]
;
Mikko,Seppänen [24]
;
Markku,Vänttinen [25]
;
Timi,Martelius [26]
;
Juha,Grönholm [27]
;
Matilde,Peri [28]
;
Chiara,Azzari [28]
;
Silvia,Ricci [28]
;
Samar,Ojaimi [29]
;
Emily S J,Edwards [30]
;
Menno C,van Zelm [31]
;
Jinqiao,Sun [32]
;
Hassan,Abolhassani [33]
;
Qiang,Pan-Hammarström [34]
;
Hakon,Hakonarson [35]
;
Daniel,Mayr [36]
;
Kaan,Boztug [37]
;
Bertrand,Boisson [38]
;
Jean-Laurent,Casanova [39]
;
Carole,Le Coz [40]
;
Gregory M K,Poon [41]
;
Neil,Romberg [9]
作者单位：
Division of Immunology and Allergy, Children's Hospital of Philadelphia, Philadelphia, PA.
[1]
Division of Immunology and Allergy, Children's Hospital of Philadelphia, Philadelphia, PA.;Immunology Graduate Group, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
[2]
Division of Rheumatology, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL.;Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, IL.
[3]
Center for Omics Sciences, IRCCS San Raffaele Scientific Institute, Milan, Italy.;San Raffaele Telethon Institute for Gene Therapy, IRCCS San Raffaele Scientific Institute, Milan, Italy.
[4]
Vita-Salute San Raffaele University, Milan, Italy.;Pediatric Immunohematology and Bone Marrow Transplantation Unit, IRCCS San Raffaele Hospital, Milan, Italy.
[5]
San Raffaele Telethon Institute for Gene Therapy, IRCCS San Raffaele Scientific Institute, Milan, Italy.;Pediatric Immunohematology and Bone Marrow Transplantation Unit, IRCCS San Raffaele Hospital, Milan, Italy.
[6]
Immunology Service, Department of Laboratory Medicine, National Institutes of Health Clinical Center, National Institutes of Health, Bethesda, MD.
[7]
Division of Asthma, Allergy and Immunology, Department of Medicine, University of Virginia, Charlottesville, VA.
[8]
Division of Immunology and Allergy, Children's Hospital of Philadelphia, Philadelphia, PA.;Department of Pediatrics, Perelman School of Medicine, Philadelphia, PA.;Institute for Immunology and Immune Health, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
[9]
Division of Pediatric Pulmonology, Allergy-Immunology, and Sleep Medicine, Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN.
[10]
Department of Medical and Molecular Genetics, Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN.
[11]
Clinic of Allergy and Immunology, University Clinical Center of Serbia, Belgrade, Serbia.;Department of Medicine, Faculty of Medicine, University of Belgrade, Belgrade, Serbia.
[12]
Department of Immunology, Mother and Child Health Care Institute of Serbia, Belgrade, Serbia.
[13]
Department of Medicine, Faculty of Medicine, University of Belgrade, Belgrade, Serbia.;Department of Immunology, Mother and Child Health Care Institute of Serbia, Belgrade, Serbia.
[14]
Division of Clinical Immunology and Allergy, Children's Hospital Los Angeles, Los Angeles, CA.;Department of Pediatrics, Keck School of Medicine, University of Southern California, Los Angeles, CA.
[15]
Division of Immunology and Allergy, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.
[16]
Department of Woman, Mother, Child, Unit of Pediatric Immunology, Allergology and Rheumatology, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.
[17]
Department of Pediatrics, Section of Allergy and Immunology, Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, CO.
[18]
Department of Dermatology, Primary Immunodeficiency Clinical Unit and Laboratory, Semmelweis University, Budapest, Hungary.
[19]
Department of Rheumatology, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.
[20]
Pediatric Immunology Clinic, Soroka University Medical Center, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.
[21]
Laboratory of Genetics, HUS Diagnostic Center, University of Helsinki, Helsinki, Finland.
[22]
Translational Immunology Research Program, University of Helsinki, Helsinki, Finland.
[23]
Translational Immunology Research Program, University of Helsinki, Helsinki, Finland.;Rare Diseases Center and Pediatric Research Center, New Children's Hospital, University of Helsinki and HUS Helsinki University Hospital, Helsinki, Finland.
[24]
Department of Medicine, Unit of Infectious Diseases and Hospital Hygiene, Kuopio University Hospital, Kuopio, Finland.;Wellbeing Services, County of North Savo, Kuopio, Finland.
[25]
Inflammation Center, Department of Infectious Disease, HUS Helsinki University Hospital and University of Helsinki, Helsinki, Finland.
[26]
Translational Immunology Research Program, University of Helsinki, Helsinki, Finland.;Division of Hematology, Oncology, and Stem Cell Transplantation and Pediatric Research Center, New Children's Hospital, HUS Helsinki University Hospital, Helsinki, Finland.
[27]
Department of Health Sciences, University of Florence, Florence, Italy.;Meyer Children's Hospital IRCCS, Florence, Italy.
[28]
Department of Medicine, School of Clinical Sciences, Monash University, Clayton, VIC, Australia.;Monash Health Pathology, Monash Health, Clayton, VIC, Australia.
[29]
Department of Immunology, School of Translational Medicine, Monash University, Melbourne, VIC, Australia.
[30]
Department of Immunology, School of Translational Medicine, Monash University, Melbourne, VIC, Australia.;Department of Immunology, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.
[31]
Department of Clinical Immunology, Children's Hospital of Fudan University, National Children Medical Center, Shanghai, China.
[32]
Division of Immunology, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden.;Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
[33]
Division of Immunology, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden.
[34]
Department of Pediatrics, Perelman School of Medicine, Philadelphia, PA.;Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA.;Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA.
[35]
Saint Anna Children's Cancer Research Institute, Vienna, Austria.;Department of Dermatology, Medical University of Vienna, Vienna, Austria.
[36]
Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.;Center for Molecular Medicine Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
[37]
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.
[38]
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.;Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.;Howard Hughes Medical Institute, New York, NY.
[39]
Infinity, Toulouse Institute for Infectious and Inflammatory Diseases, University of Toulouse, National Centre for Scientific Research, INSERM, Toulouse, France.
[40]
Department of Chemistry and Center for Diagnostics and Therapeutics, Georgia State University, Atlanta, GA.
[41]
医学主题词
人类(Humans);反式激活因子类(Trans-Activators);丙种球蛋白缺乏血症(Agammaglobulinemia);原癌基因蛋白质类(Proto-Oncogene Proteins);男(雄)性(Male);女(雌)性(Female);成年人(Adult);生殖细胞系突变(Germ-Line Mutation);儿童(Child);儿童, 学龄前(Child, Preschool);青少年(Adolescent);中年人(Middle Aged);青年人(Young Adult);婴儿(Infant);外显率(Penetrance)
DOI
10.1182/blood.2024026683
PMID
39854693
发布时间
2025-08-20
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Blood
Blood
2549-2560页
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