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Inherited Human BCL10 Deficiencies

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Abstract

Human BCL10 deficiency causes combined immunodeficiency with bone marrow transplantation as its only curative option. To date, there are four homozygous mutations described in the literature that were identified in four unrelated patients. Here, we describe a fifth patient with a novel mutation and summarize what we have learned about BCL10 deficiency. Due to the severity of the disease, accurate knowledge of its clinical and immunological characteristics is instrumental for early diagnosis and adequate clinical management of the patients.

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Acknowledgements

We would like to thank the patient and her family for participating in this study.

Funding

This study was supported by Instituto de Salud Carlos III (ISCIII) through the project PI22/00790 and PI17/00543 and co-funded by the European Union, Ayudas Luis _Alvarez 2022 FIBHULP. BGS was supported by PEJD2019-PRE/BMD-16556 Predoctoral Fellowships CAM and ESID Bridge Fellowship. AVDR received support from Instituto de Salud Carlos III (ISCIII) through the project PI17/00543. RMB was funded in part by the National Institute of Allergy and Infectious Diseases and the National Cancer institute of the National Institutes of Health (grant R21AI171466, #1R01CA269217-01A1, 1R01AI168210-01A1).

Author information

Author notes

  1. Ashwag A. Alsaidalani and Blanca García-Solís contributed equally to the manuscript.

Authors and Affiliations

  1. Department of Pediatrics, Faculty of Medicine, King Abdulaziz University, 22252, Jeddah, Saudi Arabia

    Ashwag A. Alsaidalani & Esraa Bukhari

  2. Laboratory of Immunogenetics of Human Diseases, IdiPAZ Institute for Health Research, La Paz University Hospital, 28046, Madrid, Spain

    Blanca García-Solís, Ana Van Den Rym & Rebeca Perez de Diego

  3. Innate Immunity Group, IdiPAZ Institute for Health Research, La Paz University Hospital, 28046, Madrid, Spain

    Blanca García-Solís, Ana Van Den Rym, Eduardo López-Collazo & Rebeca Perez de Diego

  4. Interdepartmental Group of Immunodeficiencies, Madrid, Spain

    Blanca García-Solís, Ana Van Den Rym, Silvia Sánchez-Ramón & Rebeca Perez de Diego

  5. Clinical Immunology Department and IdSSC, San Carlos Clinical Hospital, 28040, Madrid, Spain

    Silvia Sánchez-Ramón

  6. IdiPAZ Institute for Health Research, La Paz University Hospital, CIBERER U-754, 28046, Madrid, Spain

    Fernando Corvillo & Alberto López-Lera

  7. Immunology Department, Hospital Ramon y Cajal, 28034, Madrid, Spain

    Ana de Andrés

  8. Division of Genetic Medicine, Department of Medicine, Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, 37232, USA

    Rubén Martínez-Barricarte

  9. Division of Molecular Pathogenesis, Department of Pathology, Microbiology, and Immunology, Vanderbilt Center for Immunobiology, Immunology, and Inflammation, Vanderbilt Institute for Infection, Vanderbilt University Medical Center, Nashville, TN, 37232, USA

    Rubén Martínez-Barricarte

Authors
  1. Ashwag A. Alsaidalani
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  2. Blanca García-Solís
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  11. Rebeca Perez de Diego
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Contributions

A.A.A.: physician in charge of the patient’s care and head of the laboratory where the T cell and B cell experiments were performed. B.G.-S. and A.V.D.R.: Sanger sequencing, protein expression, mutagenesis, transfections, and ELISA. E.B.: T and B phenotype. E.L.-C.: group leader, consulting on experimental procedures. S.S.-R., F.C., A.L.-L., and A.d.A.: manuscript comments, advice, and editing. R.M.-B.: manuscript drafting and editing. R.P.d.D.: laboratory head, experiment design, manuscript drafting, and editing.

Corresponding author

Correspondence to Rebeca Perez de Diego.

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Ethics Approval

The experimental protocol was approved by the ethics committee of La Paz University Hospital (Madrid, Spain) and King Abdulaziz University Hospital (Jeddah, Saudi Arabia).

Consent to Participate

Written informed consent was obtained from the family for participation in this study.

Consent for Publication

Written informed consent was obtained from the family for publication in this study.

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The authors declare no competing interests.

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Alsaidalani, A.A., García-Solís, B., Bukhari, E. et al. Inherited Human BCL10 Deficiencies. J Clin Immunol 44, 13 (2024). https://doi.org/10.1007/s10875-023-01619-z

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