Clinical MedicineGeneticsImmunology Open Access | 10.1172/JCI178263

Jessica N. Peel,1 Rui Yang,1 Tom Le Voyer,1,2,3,4 Adrian Gervais,2,3 Jérémie Rosain,2,3,5 Paul Bastard,1,2,3,6 Anish Behere,7 Axel Cederholm,7 Aaron Bodansky,8,9 Yoann Seeleuthner,2,3 Clément Conil,2,3 Jing-Ya Ding,10 Wei-Te Lei,10,11 Lucy Bizien,2,3 Camille Soudee,2,3 Mélanie Migaud,2,3 Masato Ogishi,1 Ahmad Yatim,1 Danyel Lee,1,2,3 Jonathan Bohlen,2,3 Thomas Perpoint,12 Laura Perez,13 Fernando Messina,14 Roxana Genet,15 Ludovic Karkowski,16 Mathieu Blot,17 Emmanuel Lafont,18 Laurie Toullec,19 Claire Goulvestre,19 Souad Mehlal-Sedkaoui,20 Jérôme Sallette,21 Fernando Martin,21 Anne Puel,1,2,3 Emmanuelle Jouanguy,1,2,3 CONSTANCES cohort,22 3C-Dijon Study,22 Etablissement du Sang study group,22 Mark S. Anderson,8,9 Nils Landegren,7,23 Pierre Tiberghien,24,25 Laurent Abel,1,2,3 Stéphanie Boisson-Dupuis,1,2,3 Jacinta Bustamante,1,2,3,5 Cheng-Lung Ku,10,26 and Jean-Laurent Casanova1,2,3,6,27

1St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, New York, USA.

2Laboratory of Human Genetics of Infectious Diseases, Inserm U1163, Paris, France.

3Paris Cité University, Imagine Institute, Paris, France.

4Clinical Immunology Department, Assistance Publique Hôpitaux de Paris (AP-HP), Saint-Louis Hospital, Paris, France.

5Study Center for Primary Immunodeficiencies and

6Pediatric Hematology-Immunology and Rheumatology Unit, Necker Hospital for Sick Children, Assistante Publique-Hôpitaux de Paris (AP-HP), Paris, France.

7Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.

8Department of Pediatric Critical Care Medicine and

9Department of Medicine, UCSF, San Francisco, California, USA.

10Laboratory of Human Immunology and Infectious Disease, Graduate Institute of Clinical Medical Sciences; Center for Molecular and Clinical Immunology, Chang Gung University, Taoyuan, Taiwan.

11Department of Pediatrics, Hsinchu Municipal MacKay Children’s Hospital, Hsinchu, Taiwan.

12Infectious and Tropical Diseases Service, Hospices Civils of Lyon, Lyon, France.

13Immunology and Rheumatology Unit, Prof. Dr. Juan P. Garrahan National Hospital of Pediatrics, Buenos Aires, Argentina.

14Mycology Unit, Dr. Francisco J. Muñiz Hospital, Buenos Aires, Argentina.

15Infectious Diseases Service, Regional Hospital of Metz-Thionville, France.

16Deparement of Internal Medicine, Sainte Anne Armed Forces Teaching Hospital, Toulon, France.

17Department of Infectious Diseases, Dijon-Bourgogne University Hospital, Dijon, France.

18Department of Infectious Diseases and Tropical Medicine, Paris Cité University, Necker Hospital for Sick Children and

19Laboratory of Immunology, Cochin hospital, AP-HP, Paris, France.

20Cerba, Saint-Ouen l’Aumône, France.

21Cerba HealthCare, Issy-les-Moulineaux, France.

22Details are available in the Supplemental Acknowledgments.

23Centre for Molecular Medicine, Department of Medicine (Solna), Karolinska Institute, Stockholm, Sweden.

24Etablissement Français Du Sang, La Plaine Saint-Denis, France.

2520UMR1098 RIGHT, INSERM, EFS, Université de Franche-Comté, Besançon, France.

26Department of Nephrology, Chang Gung Memorial Hospital, Taoyuan, Taiwan.

27Howard Hughes Medical Institute, New York, New York, USA.

Address correspondence to: Jean-Laurent Casanova or Jessica N. Peel, St. Giles Laboratory of Human Genetics of Infectious Diseases. The Rockefeller University, 1230 York Ave., New York, New York 10065, USA. Phone: 212.327.7331; Email: casanova@rockefeller.edu (JLC) or jpeel@rockefeller.edu (JNP).

Authorship note: RY, TLV are co–second authors. A Gervais, JR, and PB are co–third authors. AC, A Behere, and A Bodansky are co–fourth authors. PT, LA, SBD, J Bustamante, and CLK contributed equally to this work.

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1St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, New York, USA.

2Laboratory of Human Genetics of Infectious Diseases, Inserm U1163, Paris, France.

3Paris Cité University, Imagine Institute, Paris, France.

4Clinical Immunology Department, Assistance Publique Hôpitaux de Paris (AP-HP), Saint-Louis Hospital, Paris, France.

5Study Center for Primary Immunodeficiencies and

6Pediatric Hematology-Immunology and Rheumatology Unit, Necker Hospital for Sick Children, Assistante Publique-Hôpitaux de Paris (AP-HP), Paris, France.

7Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.

8Department of Pediatric Critical Care Medicine and

9Department of Medicine, UCSF, San Francisco, California, USA.

10Laboratory of Human Immunology and Infectious Disease, Graduate Institute of Clinical Medical Sciences; Center for Molecular and Clinical Immunology, Chang Gung University, Taoyuan, Taiwan.

11Department of Pediatrics, Hsinchu Municipal MacKay Children’s Hospital, Hsinchu, Taiwan.

12Infectious and Tropical Diseases Service, Hospices Civils of Lyon, Lyon, France.

13Immunology and Rheumatology Unit, Prof. Dr. Juan P. Garrahan National Hospital of Pediatrics, Buenos Aires, Argentina.

14Mycology Unit, Dr. Francisco J. Muñiz Hospital, Buenos Aires, Argentina.

15Infectious Diseases Service, Regional Hospital of Metz-Thionville, France.

16Deparement of Internal Medicine, Sainte Anne Armed Forces Teaching Hospital, Toulon, France.

17Department of Infectious Diseases, Dijon-Bourgogne University Hospital, Dijon, France.

18Department of Infectious Diseases and Tropical Medicine, Paris Cité University, Necker Hospital for Sick Children and

19Laboratory of Immunology, Cochin hospital, AP-HP, Paris, France.

20Cerba, Saint-Ouen l’Aumône, France.

21Cerba HealthCare, Issy-les-Moulineaux, France.

22Details are available in the Supplemental Acknowledgments.

23Centre for Molecular Medicine, Department of Medicine (Solna), Karolinska Institute, Stockholm, Sweden.

24Etablissement Français Du Sang, La Plaine Saint-Denis, France.

2520UMR1098 RIGHT, INSERM, EFS, Université de Franche-Comté, Besançon, France.

26Department of Nephrology, Chang Gung Memorial Hospital, Taoyuan, Taiwan.

27Howard Hughes Medical Institute, New York, New York, USA.

Address correspondence to: Jean-Laurent Casanova or Jessica N. Peel, St. Giles Laboratory of Human Genetics of Infectious Diseases. The Rockefeller University, 1230 York Ave., New York, New York 10065, USA. Phone: 212.327.7331; Email: casanova@rockefeller.edu (JLC) or jpeel@rockefeller.edu (JNP).

Authorship note: RY, TLV are co–second authors. A Gervais, JR, and PB are co–third authors. AC, A Behere, and A Bodansky are co–fourth authors. PT, LA, SBD, J Bustamante, and CLK contributed equally to this work.

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1St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, New York, USA.

2Laboratory of Human Genetics of Infectious Diseases, Inserm U1163, Paris, France.

3Paris Cité University, Imagine Institute, Paris, France.

4Clinical Immunology Department, Assistance Publique Hôpitaux de Paris (AP-HP), Saint-Louis Hospital, Paris, France.

5Study Center for Primary Immunodeficiencies and

6Pediatric Hematology-Immunology and Rheumatology Unit, Necker Hospital for Sick Children, Assistante Publique-Hôpitaux de Paris (AP-HP), Paris, France.

7Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.

8Department of Pediatric Critical Care Medicine and

9Department of Medicine, UCSF, San Francisco, California, USA.

10Laboratory of Human Immunology and Infectious Disease, Graduate Institute of Clinical Medical Sciences; Center for Molecular and Clinical Immunology, Chang Gung University, Taoyuan, Taiwan.

11Department of Pediatrics, Hsinchu Municipal MacKay Children’s Hospital, Hsinchu, Taiwan.

12Infectious and Tropical Diseases Service, Hospices Civils of Lyon, Lyon, France.

13Immunology and Rheumatology Unit, Prof. Dr. Juan P. Garrahan National Hospital of Pediatrics, Buenos Aires, Argentina.

14Mycology Unit, Dr. Francisco J. Muñiz Hospital, Buenos Aires, Argentina.

15Infectious Diseases Service, Regional Hospital of Metz-Thionville, France.

16Deparement of Internal Medicine, Sainte Anne Armed Forces Teaching Hospital, Toulon, France.

17Department of Infectious Diseases, Dijon-Bourgogne University Hospital, Dijon, France.

18Department of Infectious Diseases and Tropical Medicine, Paris Cité University, Necker Hospital for Sick Children and

19Laboratory of Immunology, Cochin hospital, AP-HP, Paris, France.

20Cerba, Saint-Ouen l’Aumône, France.

21Cerba HealthCare, Issy-les-Moulineaux, France.

22Details are available in the Supplemental Acknowledgments.

23Centre for Molecular Medicine, Department of Medicine (Solna), Karolinska Institute, Stockholm, Sweden.

24Etablissement Français Du Sang, La Plaine Saint-Denis, France.

2520UMR1098 RIGHT, INSERM, EFS, Université de Franche-Comté, Besançon, France.

26Department of Nephrology, Chang Gung Memorial Hospital, Taoyuan, Taiwan.

27Howard Hughes Medical Institute, New York, New York, USA.

Address correspondence to: Jean-Laurent Casanova or Jessica N. Peel, St. Giles Laboratory of Human Genetics of Infectious Diseases. The Rockefeller University, 1230 York Ave., New York, New York 10065, USA. Phone: 212.327.7331; Email: casanova@rockefeller.edu (JLC) or jpeel@rockefeller.edu (JNP).

Authorship note: RY, TLV are co–second authors. A Gervais, JR, and PB are co–third authors. AC, A Behere, and A Bodansky are co–fourth authors. PT, LA, SBD, J Bustamante, and CLK contributed equally to this work.

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1St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, New York, USA.

2Laboratory of Human Genetics of Infectious Diseases, Inserm U1163, Paris, France.

3Paris Cité University, Imagine Institute, Paris, France.

4Clinical Immunology Department, Assistance Publique Hôpitaux de Paris (AP-HP), Saint-Louis Hospital, Paris, France.

5Study Center for Primary Immunodeficiencies and

6Pediatric Hematology-Immunology and Rheumatology Unit, Necker Hospital for Sick Children, Assistante Publique-Hôpitaux de Paris (AP-HP), Paris, France.

7Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.

8Department of Pediatric Critical Care Medicine and

9Department of Medicine, UCSF, San Francisco, California, USA.

10Laboratory of Human Immunology and Infectious Disease, Graduate Institute of Clinical Medical Sciences; Center for Molecular and Clinical Immunology, Chang Gung University, Taoyuan, Taiwan.

11Department of Pediatrics, Hsinchu Municipal MacKay Children’s Hospital, Hsinchu, Taiwan.

12Infectious and Tropical Diseases Service, Hospices Civils of Lyon, Lyon, France.

13Immunology and Rheumatology Unit, Prof. Dr. Juan P. Garrahan National Hospital of Pediatrics, Buenos Aires, Argentina.

14Mycology Unit, Dr. Francisco J. Muñiz Hospital, Buenos Aires, Argentina.

15Infectious Diseases Service, Regional Hospital of Metz-Thionville, France.

16Deparement of Internal Medicine, Sainte Anne Armed Forces Teaching Hospital, Toulon, France.

17Department of Infectious Diseases, Dijon-Bourgogne University Hospital, Dijon, France.

18Department of Infectious Diseases and Tropical Medicine, Paris Cité University, Necker Hospital for Sick Children and

19Laboratory of Immunology, Cochin hospital, AP-HP, Paris, France.

20Cerba, Saint-Ouen l’Aumône, France.

21Cerba HealthCare, Issy-les-Moulineaux, France.

22Details are available in the Supplemental Acknowledgments.

23Centre for Molecular Medicine, Department of Medicine (Solna), Karolinska Institute, Stockholm, Sweden.

24Etablissement Français Du Sang, La Plaine Saint-Denis, France.

2520UMR1098 RIGHT, INSERM, EFS, Université de Franche-Comté, Besançon, France.

26Department of Nephrology, Chang Gung Memorial Hospital, Taoyuan, Taiwan.

27Howard Hughes Medical Institute, New York, New York, USA.

Address correspondence to: Jean-Laurent Casanova or Jessica N. Peel, St. Giles Laboratory of Human Genetics of Infectious Diseases. The Rockefeller University, 1230 York Ave., New York, New York 10065, USA. Phone: 212.327.7331; Email: casanova@rockefeller.edu (JLC) or jpeel@rockefeller.edu (JNP).

Authorship note: RY, TLV are co–second authors. A Gervais, JR, and PB are co–third authors. AC, A Behere, and A Bodansky are co–fourth authors. PT, LA, SBD, J Bustamante, and CLK contributed equally to this work.

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1St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, New York, USA.

2Laboratory of Human Genetics of Infectious Diseases, Inserm U1163, Paris, France.

3Paris Cité University, Imagine Institute, Paris, France.

4Clinical Immunology Department, Assistance Publique Hôpitaux de Paris (AP-HP), Saint-Louis Hospital, Paris, France.

5Study Center for Primary Immunodeficiencies and

6Pediatric Hematology-Immunology and Rheumatology Unit, Necker Hospital for Sick Children, Assistante Publique-Hôpitaux de Paris (AP-HP), Paris, France.

7Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.

8Department of Pediatric Critical Care Medicine and

9Department of Medicine, UCSF, San Francisco, California, USA.

10Laboratory of Human Immunology and Infectious Disease, Graduate Institute of Clinical Medical Sciences; Center for Molecular and Clinical Immunology, Chang Gung University, Taoyuan, Taiwan.

11Department of Pediatrics, Hsinchu Municipal MacKay Children’s Hospital, Hsinchu, Taiwan.

12Infectious and Tropical Diseases Service, Hospices Civils of Lyon, Lyon, France.

13Immunology and Rheumatology Unit, Prof. Dr. Juan P. Garrahan National Hospital of Pediatrics, Buenos Aires, Argentina.

14Mycology Unit, Dr. Francisco J. Muñiz Hospital, Buenos Aires, Argentina.

15Infectious Diseases Service, Regional Hospital of Metz-Thionville, France.

16Deparement of Internal Medicine, Sainte Anne Armed Forces Teaching Hospital, Toulon, France.

17Department of Infectious Diseases, Dijon-Bourgogne University Hospital, Dijon, France.

18Department of Infectious Diseases and Tropical Medicine, Paris Cité University, Necker Hospital for Sick Children and

19Laboratory of Immunology, Cochin hospital, AP-HP, Paris, France.

20Cerba, Saint-Ouen l’Aumône, France.

21Cerba HealthCare, Issy-les-Moulineaux, France.

22Details are available in the Supplemental Acknowledgments.

23Centre for Molecular Medicine, Department of Medicine (Solna), Karolinska Institute, Stockholm, Sweden.

24Etablissement Français Du Sang, La Plaine Saint-Denis, France.

2520UMR1098 RIGHT, INSERM, EFS, Université de Franche-Comté, Besançon, France.

26Department of Nephrology, Chang Gung Memorial Hospital, Taoyuan, Taiwan.

27Howard Hughes Medical Institute, New York, New York, USA.

Address correspondence to: Jean-Laurent Casanova or Jessica N. Peel, St. Giles Laboratory of Human Genetics of Infectious Diseases. The Rockefeller University, 1230 York Ave., New York, New York 10065, USA. Phone: 212.327.7331; Email: casanova@rockefeller.edu (JLC) or jpeel@rockefeller.edu (JNP).

Authorship note: RY, TLV are co–second authors. A Gervais, JR, and PB are co–third authors. AC, A Behere, and A Bodansky are co–fourth authors. PT, LA, SBD, J Bustamante, and CLK contributed equally to this work.

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1St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, New York, USA.

2Laboratory of Human Genetics of Infectious Diseases, Inserm U1163, Paris, France.

3Paris Cité University, Imagine Institute, Paris, France.

4Clinical Immunology Department, Assistance Publique Hôpitaux de Paris (AP-HP), Saint-Louis Hospital, Paris, France.

5Study Center for Primary Immunodeficiencies and

6Pediatric Hematology-Immunology and Rheumatology Unit, Necker Hospital for Sick Children, Assistante Publique-Hôpitaux de Paris (AP-HP), Paris, France.

7Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.

8Department of Pediatric Critical Care Medicine and

9Department of Medicine, UCSF, San Francisco, California, USA.

10Laboratory of Human Immunology and Infectious Disease, Graduate Institute of Clinical Medical Sciences; Center for Molecular and Clinical Immunology, Chang Gung University, Taoyuan, Taiwan.

11Department of Pediatrics, Hsinchu Municipal MacKay Children’s Hospital, Hsinchu, Taiwan.

12Infectious and Tropical Diseases Service, Hospices Civils of Lyon, Lyon, France.

13Immunology and Rheumatology Unit, Prof. Dr. Juan P. Garrahan National Hospital of Pediatrics, Buenos Aires, Argentina.

14Mycology Unit, Dr. Francisco J. Muñiz Hospital, Buenos Aires, Argentina.

15Infectious Diseases Service, Regional Hospital of Metz-Thionville, France.

16Deparement of Internal Medicine, Sainte Anne Armed Forces Teaching Hospital, Toulon, France.

17Department of Infectious Diseases, Dijon-Bourgogne University Hospital, Dijon, France.

18Department of Infectious Diseases and Tropical Medicine, Paris Cité University, Necker Hospital for Sick Children and

19Laboratory of Immunology, Cochin hospital, AP-HP, Paris, France.

20Cerba, Saint-Ouen l’Aumône, France.

21Cerba HealthCare, Issy-les-Moulineaux, France.

22Details are available in the Supplemental Acknowledgments.

23Centre for Molecular Medicine, Department of Medicine (Solna), Karolinska Institute, Stockholm, Sweden.

24Etablissement Français Du Sang, La Plaine Saint-Denis, France.

2520UMR1098 RIGHT, INSERM, EFS, Université de Franche-Comté, Besançon, France.

26Department of Nephrology, Chang Gung Memorial Hospital, Taoyuan, Taiwan.

27Howard Hughes Medical Institute, New York, New York, USA.

Address correspondence to: Jean-Laurent Casanova or Jessica N. Peel, St. Giles Laboratory of Human Genetics of Infectious Diseases. The Rockefeller University, 1230 York Ave., New York, New York 10065, USA. Phone: 212.327.7331; Email: casanova@rockefeller.edu (JLC) or jpeel@rockefeller.edu (JNP).

Authorship note: RY, TLV are co–second authors. A Gervais, JR, and PB are co–third authors. AC, A Behere, and A Bodansky are co–fourth authors. PT, LA, SBD, J Bustamante, and CLK contributed equally to this work.

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1St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, New York, USA.

2Laboratory of Human Genetics of Infectious Diseases, Inserm U1163, Paris, France.

3Paris Cité University, Imagine Institute, Paris, France.

4Clinical Immunology Department, Assistance Publique Hôpitaux de Paris (AP-HP), Saint-Louis Hospital, Paris, France.

5Study Center for Primary Immunodeficiencies and

6Pediatric Hematology-Immunology and Rheumatology Unit, Necker Hospital for Sick Children, Assistante Publique-Hôpitaux de Paris (AP-HP), Paris, France.

7Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.

8Department of Pediatric Critical Care Medicine and

9Department of Medicine, UCSF, San Francisco, California, USA.

10Laboratory of Human Immunology and Infectious Disease, Graduate Institute of Clinical Medical Sciences; Center for Molecular and Clinical Immunology, Chang Gung University, Taoyuan, Taiwan.

11Department of Pediatrics, Hsinchu Municipal MacKay Children’s Hospital, Hsinchu, Taiwan.

12Infectious and Tropical Diseases Service, Hospices Civils of Lyon, Lyon, France.

13Immunology and Rheumatology Unit, Prof. Dr. Juan P. Garrahan National Hospital of Pediatrics, Buenos Aires, Argentina.

14Mycology Unit, Dr. Francisco J. Muñiz Hospital, Buenos Aires, Argentina.

15Infectious Diseases Service, Regional Hospital of Metz-Thionville, France.

16Deparement of Internal Medicine, Sainte Anne Armed Forces Teaching Hospital, Toulon, France.

17Department of Infectious Diseases, Dijon-Bourgogne University Hospital, Dijon, France.

18Department of Infectious Diseases and Tropical Medicine, Paris Cité University, Necker Hospital for Sick Children and

19Laboratory of Immunology, Cochin hospital, AP-HP, Paris, France.

20Cerba, Saint-Ouen l’Aumône, France.

21Cerba HealthCare, Issy-les-Moulineaux, France.

22Details are available in the Supplemental Acknowledgments.

23Centre for Molecular Medicine, Department of Medicine (Solna), Karolinska Institute, Stockholm, Sweden.

24Etablissement Français Du Sang, La Plaine Saint-Denis, France.

2520UMR1098 RIGHT, INSERM, EFS, Université de Franche-Comté, Besançon, France.

26Department of Nephrology, Chang Gung Memorial Hospital, Taoyuan, Taiwan.

27Howard Hughes Medical Institute, New York, New York, USA.

Address correspondence to: Jean-Laurent Casanova or Jessica N. Peel, St. Giles Laboratory of Human Genetics of Infectious Diseases. The Rockefeller University, 1230 York Ave., New York, New York 10065, USA. Phone: 212.327.7331; Email: casanova@rockefeller.edu (JLC) or jpeel@rockefeller.edu (JNP).

Authorship note: RY, TLV are co–second authors. A Gervais, JR, and PB are co–third authors. AC, A Behere, and A Bodansky are co–fourth authors. PT, LA, SBD, J Bustamante, and CLK contributed equally to this work.

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1St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, New York, USA.

2Laboratory of Human Genetics of Infectious Diseases, Inserm U1163, Paris, France.

3Paris Cité University, Imagine Institute, Paris, France.

4Clinical Immunology Department, Assistance Publique Hôpitaux de Paris (AP-HP), Saint-Louis Hospital, Paris, France.

5Study Center for Primary Immunodeficiencies and

6Pediatric Hematology-Immunology and Rheumatology Unit, Necker Hospital for Sick Children, Assistante Publique-Hôpitaux de Paris (AP-HP), Paris, France.

7Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.

8Department of Pediatric Critical Care Medicine and

9Department of Medicine, UCSF, San Francisco, California, USA.

10Laboratory of Human Immunology and Infectious Disease, Graduate Institute of Clinical Medical Sciences; Center for Molecular and Clinical Immunology, Chang Gung University, Taoyuan, Taiwan.

11Department of Pediatrics, Hsinchu Municipal MacKay Children’s Hospital, Hsinchu, Taiwan.

12Infectious and Tropical Diseases Service, Hospices Civils of Lyon, Lyon, France.

13Immunology and Rheumatology Unit, Prof. Dr. Juan P. Garrahan National Hospital of Pediatrics, Buenos Aires, Argentina.

14Mycology Unit, Dr. Francisco J. Muñiz Hospital, Buenos Aires, Argentina.

15Infectious Diseases Service, Regional Hospital of Metz-Thionville, France.

16Deparement of Internal Medicine, Sainte Anne Armed Forces Teaching Hospital, Toulon, France.

17Department of Infectious Diseases, Dijon-Bourgogne University Hospital, Dijon, France.

18Department of Infectious Diseases and Tropical Medicine, Paris Cité University, Necker Hospital for Sick Children and

19Laboratory of Immunology, Cochin hospital, AP-HP, Paris, France.

20Cerba, Saint-Ouen l’Aumône, France.

21Cerba HealthCare, Issy-les-Moulineaux, France.

22Details are available in the Supplemental Acknowledgments.

23Centre for Molecular Medicine, Department of Medicine (Solna), Karolinska Institute, Stockholm, Sweden.

24Etablissement Français Du Sang, La Plaine Saint-Denis, France.

2520UMR1098 RIGHT, INSERM, EFS, Université de Franche-Comté, Besançon, France.

26Department of Nephrology, Chang Gung Memorial Hospital, Taoyuan, Taiwan.

27Howard Hughes Medical Institute, New York, New York, USA.

Address correspondence to: Jean-Laurent Casanova or Jessica N. Peel, St. Giles Laboratory of Human Genetics of Infectious Diseases. The Rockefeller University, 1230 York Ave., New York, New York 10065, USA. Phone: 212.327.7331; Email: casanova@rockefeller.edu (JLC) or jpeel@rockefeller.edu (JNP).

Authorship note: RY, TLV are co–second authors. A Gervais, JR, and PB are co–third authors. AC, A Behere, and A Bodansky are co–fourth authors. PT, LA, SBD, J Bustamante, and CLK contributed equally to this work.

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1St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, New York, USA.

2Laboratory of Human Genetics of Infectious Diseases, Inserm U1163, Paris, France.

3Paris Cité University, Imagine Institute, Paris, France.

4Clinical Immunology Department, Assistance Publique Hôpitaux de Paris (AP-HP), Saint-Louis Hospital, Paris, France.

5Study Center for Primary Immunodeficiencies and

6Pediatric Hematology-Immunology and Rheumatology Unit, Necker Hospital for Sick Children, Assistante Publique-Hôpitaux de Paris (AP-HP), Paris, France.

7Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.

8Department of Pediatric Critical Care Medicine and

9Department of Medicine, UCSF, San Francisco, California, USA.

10Laboratory of Human Immunology and Infectious Disease, Graduate Institute of Clinical Medical Sciences; Center for Molecular and Clinical Immunology, Chang Gung University, Taoyuan, Taiwan.

11Department of Pediatrics, Hsinchu Municipal MacKay Children’s Hospital, Hsinchu, Taiwan.

12Infectious and Tropical Diseases Service, Hospices Civils of Lyon, Lyon, France.

13Immunology and Rheumatology Unit, Prof. Dr. Juan P. Garrahan National Hospital of Pediatrics, Buenos Aires, Argentina.

14Mycology Unit, Dr. Francisco J. Muñiz Hospital, Buenos Aires, Argentina.

15Infectious Diseases Service, Regional Hospital of Metz-Thionville, France.

16Deparement of Internal Medicine, Sainte Anne Armed Forces Teaching Hospital, Toulon, France.

17Department of Infectious Diseases, Dijon-Bourgogne University Hospital, Dijon, France.

18Department of Infectious Diseases and Tropical Medicine, Paris Cité University, Necker Hospital for Sick Children and

19Laboratory of Immunology, Cochin hospital, AP-HP, Paris, France.

20Cerba, Saint-Ouen l’Aumône, France.

21Cerba HealthCare, Issy-les-Moulineaux, France.

22Details are available in the Supplemental Acknowledgments.

23Centre for Molecular Medicine, Department of Medicine (Solna), Karolinska Institute, Stockholm, Sweden.

24Etablissement Français Du Sang, La Plaine Saint-Denis, France.

2520UMR1098 RIGHT, INSERM, EFS, Université de Franche-Comté, Besançon, France.

26Department of Nephrology, Chang Gung Memorial Hospital, Taoyuan, Taiwan.

27Howard Hughes Medical Institute, New York, New York, USA.

Address correspondence to: Jean-Laurent Casanova or Jessica N. Peel, St. Giles Laboratory of Human Genetics of Infectious Diseases. The Rockefeller University, 1230 York Ave., New York, New York 10065, USA. Phone: 212.327.7331; Email: casanova@rockefeller.edu (JLC) or jpeel@rockefeller.edu (JNP).

Authorship note: RY, TLV are co–second authors. A Gervais, JR, and PB are co–third authors. AC, A Behere, and A Bodansky are co–fourth authors. PT, LA, SBD, J Bustamante, and CLK contributed equally to this work.

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1St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, New York, USA.

2Laboratory of Human Genetics of Infectious Diseases, Inserm U1163, Paris, France.

3Paris Cité University, Imagine Institute, Paris, France.

4Clinical Immunology Department, Assistance Publique Hôpitaux de Paris (AP-HP), Saint-Louis Hospital, Paris, France.

5Study Center for Primary Immunodeficiencies and

6Pediatric Hematology-Immunology and Rheumatology Unit, Necker Hospital for Sick Children, Assistante Publique-Hôpitaux de Paris (AP-HP), Paris, France.

7Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.

8Department of Pediatric Critical Care Medicine and

9Department of Medicine, UCSF, San Francisco, California, USA.

10Laboratory of Human Immunology and Infectious Disease, Graduate Institute of Clinical Medical Sciences; Center for Molecular and Clinical Immunology, Chang Gung University, Taoyuan, Taiwan.

11Department of Pediatrics, Hsinchu Municipal MacKay Children’s Hospital, Hsinchu, Taiwan.

12Infectious and Tropical Diseases Service, Hospices Civils of Lyon, Lyon, France.

13Immunology and Rheumatology Unit, Prof. Dr. Juan P. Garrahan National Hospital of Pediatrics, Buenos Aires, Argentina.

14Mycology Unit, Dr. Francisco J. Muñiz Hospital, Buenos Aires, Argentina.

15Infectious Diseases Service, Regional Hospital of Metz-Thionville, France.

16Deparement of Internal Medicine, Sainte Anne Armed Forces Teaching Hospital, Toulon, France.

17Department of Infectious Diseases, Dijon-Bourgogne University Hospital, Dijon, France.

18Department of Infectious Diseases and Tropical Medicine, Paris Cité University, Necker Hospital for Sick Children and

19Laboratory of Immunology, Cochin hospital, AP-HP, Paris, France.

20Cerba, Saint-Ouen l’Aumône, France.

21Cerba HealthCare, Issy-les-Moulineaux, France.

22Details are available in the Supplemental Acknowledgments.

23Centre for Molecular Medicine, Department of Medicine (Solna), Karolinska Institute, Stockholm, Sweden.

24Etablissement Français Du Sang, La Plaine Saint-Denis, France.

2520UMR1098 RIGHT, INSERM, EFS, Université de Franche-Comté, Besançon, France.

26Department of Nephrology, Chang Gung Memorial Hospital, Taoyuan, Taiwan.

27Howard Hughes Medical Institute, New York, New York, USA.

Address correspondence to: Jean-Laurent Casanova or Jessica N. Peel, St. Giles Laboratory of Human Genetics of Infectious Diseases. The Rockefeller University, 1230 York Ave., New York, New York 10065, USA. Phone: 212.327.7331; Email: casanova@rockefeller.edu (JLC) or jpeel@rockefeller.edu (JNP).

Authorship note: RY, TLV are co–second authors. A Gervais, JR, and PB are co–third authors. AC, A Behere, and A Bodansky are co–fourth authors. PT, LA, SBD, J Bustamante, and CLK contributed equally to this work.

Find articles by Seeleuthner, Y. in: JCI | PubMed | Google Scholar

1St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, New York, USA.

2Laboratory of Human Genetics of Infectious Diseases, Inserm U1163, Paris, France.

3Paris Cité University, Imagine Institute, Paris, France.

4Clinical Immunology Department, Assistance Publique Hôpitaux de Paris (AP-HP), Saint-Louis Hospital, Paris, France.

5Study Center for Primary Immunodeficiencies and

6Pediatric Hematology-Immunology and Rheumatology Unit, Necker Hospital for Sick Children, Assistante Publique-Hôpitaux de Paris (AP-HP), Paris, France.

7Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.

8Department of Pediatric Critical Care Medicine and

9Department of Medicine, UCSF, San Francisco, California, USA.

10Laboratory of Human Immunology and Infectious Disease, Graduate Institute of Clinical Medical Sciences; Center for Molecular and Clinical Immunology, Chang Gung University, Taoyuan, Taiwan.

11Department of Pediatrics, Hsinchu Municipal MacKay Children’s Hospital, Hsinchu, Taiwan.

12Infectious and Tropical Diseases Service, Hospices Civils of Lyon, Lyon, France.

13Immunology and Rheumatology Unit, Prof. Dr. Juan P. Garrahan National Hospital of Pediatrics, Buenos Aires, Argentina.

14Mycology Unit, Dr. Francisco J. Muñiz Hospital, Buenos Aires, Argentina.

15Infectious Diseases Service, Regional Hospital of Metz-Thionville, France.

16Deparement of Internal Medicine, Sainte Anne Armed Forces Teaching Hospital, Toulon, France.

17Department of Infectious Diseases, Dijon-Bourgogne University Hospital, Dijon, France.

18Department of Infectious Diseases and Tropical Medicine, Paris Cité University, Necker Hospital for Sick Children and

19Laboratory of Immunology, Cochin hospital, AP-HP, Paris, France.

20Cerba, Saint-Ouen l’Aumône, France.

21Cerba HealthCare, Issy-les-Moulineaux, France.

22Details are available in the Supplemental Acknowledgments.

23Centre for Molecular Medicine, Department of Medicine (Solna), Karolinska Institute, Stockholm, Sweden.

24Etablissement Français Du Sang, La Plaine Saint-Denis, France.

2520UMR1098 RIGHT, INSERM, EFS, Université de Franche-Comté, Besançon, France.

26Department of Nephrology, Chang Gung Memorial Hospital, Taoyuan, Taiwan.

27Howard Hughes Medical Institute, New York, New York, USA.

Address correspondence to: Jean-Laurent Casanova or Jessica N. Peel, St. Giles Laboratory of Human Genetics of Infectious Diseases. The Rockefeller University, 1230 York Ave., New York, New York 10065, USA. Phone: 212.327.7331; Email: casanova@rockefeller.edu (JLC) or jpeel@rockefeller.edu (JNP).

Authorship note: RY, TLV are co–second authors. A Gervais, JR, and PB are co–third authors. AC, A Behere, and A Bodansky are co–fourth authors. PT, LA, SBD, J Bustamante, and CLK contributed equally to this work.

Find articles by Conil, C. in: JCI | PubMed | Google Scholar

1St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, New York, USA.

2Laboratory of Human Genetics of Infectious Diseases, Inserm U1163, Paris, France.

3Paris Cité University, Imagine Institute, Paris, France.

4Clinical Immunology Department, Assistance Publique Hôpitaux de Paris (AP-HP), Saint-Louis Hospital, Paris, France.

5Study Center for Primary Immunodeficiencies and

6Pediatric Hematology-Immunology and Rheumatology Unit, Necker Hospital for Sick Children, Assistante Publique-Hôpitaux de Paris (AP-HP), Paris, France.

7Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.

8Department of Pediatric Critical Care Medicine and

9Department of Medicine, UCSF, San Francisco, California, USA.

10Laboratory of Human Immunology and Infectious Disease, Graduate Institute of Clinical Medical Sciences; Center for Molecular and Clinical Immunology, Chang Gung University, Taoyuan, Taiwan.

11Department of Pediatrics, Hsinchu Municipal MacKay Children’s Hospital, Hsinchu, Taiwan.

12Infectious and Tropical Diseases Service, Hospices Civils of Lyon, Lyon, France.

13Immunology and Rheumatology Unit, Prof. Dr. Juan P. Garrahan National Hospital of Pediatrics, Buenos Aires, Argentina.

14Mycology Unit, Dr. Francisco J. Muñiz Hospital, Buenos Aires, Argentina.

15Infectious Diseases Service, Regional Hospital of Metz-Thionville, France.

16Deparement of Internal Medicine, Sainte Anne Armed Forces Teaching Hospital, Toulon, France.

17Department of Infectious Diseases, Dijon-Bourgogne University Hospital, Dijon, France.

18Department of Infectious Diseases and Tropical Medicine, Paris Cité University, Necker Hospital for Sick Children and

19Laboratory of Immunology, Cochin hospital, AP-HP, Paris, France.

20Cerba, Saint-Ouen l’Aumône, France.

21Cerba HealthCare, Issy-les-Moulineaux, France.

22Details are available in the Supplemental Acknowledgments.

23Centre for Molecular Medicine, Department of Medicine (Solna), Karolinska Institute, Stockholm, Sweden.

24Etablissement Français Du Sang, La Plaine Saint-Denis, France.

2520UMR1098 RIGHT, INSERM, EFS, Université de Franche-Comté, Besançon, France.

26Department of Nephrology, Chang Gung Memorial Hospital, Taoyuan, Taiwan.

27Howard Hughes Medical Institute, New York, New York, USA.

Address correspondence to: Jean-Laurent Casanova or Jessica N. Peel, St. Giles Laboratory of Human Genetics of Infectious Diseases. The Rockefeller University, 1230 York Ave., New York, New York 10065, USA. Phone: 212.327.7331; Email: casanova@rockefeller.edu (JLC) or jpeel@rockefeller.edu (JNP).

Authorship note: RY, TLV are co–second authors. A Gervais, JR, and PB are co–third authors. AC, A Behere, and A Bodansky are co–fourth authors. PT, LA, SBD, J Bustamante, and CLK contributed equally to this work.

Find articles by Ding, J. in: JCI | PubMed | Google Scholar

1St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, New York, USA.

2Laboratory of Human Genetics of Infectious Diseases, Inserm U1163, Paris, France.

3Paris Cité University, Imagine Institute, Paris, France.

4Clinical Immunology Department, Assistance Publique Hôpitaux de Paris (AP-HP), Saint-Louis Hospital, Paris, France.

5Study Center for Primary Immunodeficiencies and

6Pediatric Hematology-Immunology and Rheumatology Unit, Necker Hospital for Sick Children, Assistante Publique-Hôpitaux de Paris (AP-HP), Paris, France.

7Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.

8Department of Pediatric Critical Care Medicine and

9Department of Medicine, UCSF, San Francisco,