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A New Missense Mutation in CD79B Leads to Autosomal Recessive Agammaglobulinemia in Two Siblings

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Fig. 1

Data Availability

The data that support the findings of this study are available upon re-quest from to the corresponding author.

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Acknowledgements

We thank the patients and their family. We also want to thank the Centre de référence des déficits immunitaires héréditaires (CEREDIH).

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Authors and Affiliations

  1. Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children - Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France

    Steve Genebrier, Mathieu Fusaro, Nathalie Lambert & Capucine Picard

  2. Biology Pole, University Hospital, Rennes, France

    Steve Genebrier

  3. INSERM UMR1163, Imagine Institute, Université de Paris, Paris, France

    Mathieu Fusaro & Capucine Picard

  4. Pediatric Department, CH Angouleme, Angouleme, France

    Sylvie Roullaud

  5. Pediatric Department, University Hospital, Poitiers, France

    Frédéric Millot

  6. Pediatric Immuno-Hematology and Rheumatology Unit, Necker Hospital for Sick Children – AP-HP, Paris, France

    Capucine Picard

  7. French National Reference Center for Primary Immune Deficiencies CEREDIH, Necker University, Hospital for Sick Children - AP-HP, Paris, France

    Capucine Picard

  8. Centre d’Etudes des Déficits Immunitaires (CEDI), Bâtiment Lavoisier, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75015, Paris, France

    Capucine Picard

Authors
  1. Steve Genebrier
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  2. Mathieu Fusaro
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  3. Nathalie Lambert
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  4. Sylvie Roullaud
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  5. Frédéric Millot
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  6. Capucine Picard
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Contributions

SG, MF, and CP analyzed the genetics and clinical data and wrote the manuscript. NL and CP interpreted the genetics. SR and FM took care of the patients and provided clinical data. All authors critically reviewed the manuscript.

Corresponding author

Correspondence to Capucine Picard.

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Ethical Approval

The study complied with the Declaration of Helsinki and was approved by the local ethics committee.

Consent to Participate

All participants provided written and informed consent.

Consent to Publish

All co-authors give their formal written Consent to Publish prior to the submission of each version of the paper.

Conflict of Interest

The authors declare no competing interests.

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Genebrier, S., Fusaro, M., Lambert, N. et al. A New Missense Mutation in CD79B Leads to Autosomal Recessive Agammaglobulinemia in Two Siblings. J Clin Immunol 41, 1356–1360 (2021). https://doi.org/10.1007/s10875-021-01022-6

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  • DOI: https://doi.org/10.1007/s10875-021-01022-6

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