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Phenoidentical HLA-Related Hematopoietic Stem Cell Transplant Without Conditioning to Reconstitute a Patient with a Putative Loss-of-Function CARD11 Mutation

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References

  1. Turvey SE, Durandy A, Fischer A, Fung SY, Geha RS, Gewies A, et al. The CARD11-BCL10-MALT1 (CBM) signalosome complex: stepping into the limelight of human primary immunodeficiency. J Allergy Clin Immunol. 2014;134(2):276–84 Pubmed Central PMCID: 4167767.

    Article  CAS  Google Scholar 

  2. Perez de Diego R, Sanchez-Ramon S, Lopez-Collazo E, Martinez-Barricarte R, Cubillos-Zapata C, Ferreira Cerdan A, et al. Genetic errors of the human caspase recruitment domain-B-cell lymphoma 10-mucosa-associated lymphoid tissue lymphoma-translocation gene 1 (CBM) complex: molecular, immunologic, and clinical heterogeneity. J Allergy Clin Immunol. 2015;136(5):1139–49 Pubmed Central PMCID: 4894862.

    Article  CAS  Google Scholar 

  3. Stepensky P, Keller B, Buchta M, Kienzler AK, Elpeleg O, Somech R, et al. Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects. J Allergy Clin Immunol. 2013;131(2):477–85 e1.

    Article  CAS  Google Scholar 

  4. Greil J, Rausch T, Giese T, Bandapalli OR, Daniel V, Bekeredjian-Ding I, et al. Whole-exome sequencing links caspase recruitment domain 11 (CARD11) inactivation to severe combined immunodeficiency. J Allergy Clin Immunol. 2013;131(5):1376–83 e3.

    Article  CAS  Google Scholar 

  5. Fuchs S, Rensing-Ehl A, Pannicke U, Lorenz MR, Fisch P, Jeelall Y, et al. Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency. Blood. 2015;126(14):1658–69 Pubmed Central PMCID: 4654427.

    Article  CAS  Google Scholar 

  6. Al-Mousa H, Abouelhoda M, Monies DM, Al-Tassan N, Al-Ghonaium A, Al-Saud B, et al. Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases. J Allergy Clin Immunol. 2016;137(6):1780–7.

    Article  CAS  Google Scholar 

  7. Notarangelo LD. Primary immunodeficiencies. J Allergy Clin Immunol. 2010;125(2 Suppl 2):S182–94.

    Article  Google Scholar 

  8. van der Burg M, Gennery AR. Educational paper. The expanding clinical and immunological spectrum of severe combined immunodeficiency. Eur J Pediatr. 2011;170(5):561–71 Pubmed Central PMCID: 3078321.

    Article  Google Scholar 

  9. Roifman CM, Somech R, Kavadas F, Pires L, Nahum A, Dalal I, et al. Defining combined immunodeficiency. J Allergy Clin Immunol. 2012;130(1):177–83.

    Article  CAS  Google Scholar 

  10. Tangye SG, Al-Herz W, Bousfiha A, Chatila T, Cunningham-Rundles C, Etzioni A, et al. Human inborn errors of immunity: 2019 update on the classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol. 2020;40(1):24–64 Pubmed Central PMCID: 7082301.

    Article  Google Scholar 

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Acknowledgments

The authors thank the patient and his family for their trust and cooperation, as well as the nurses and clinicians at KFSH&RC for their care. Molecular genetic studies were supported by the National Science, Technology and InnovationPlan program in the Kingdom of Saudi Arabia (KACST: 13BIO755-20).

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Correspondence to Hamoud Al-Mousa.

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Capsule Summary

Homozygous loss-of-function mutations in CARD11 cause combined immunodeficiency that can be cured with hematopoietic stem cell transplantation from an HLA-matched related donor without conditioning

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Al-Rasheed, B., Alazami, A.M. & Al-Mousa, H. Phenoidentical HLA-Related Hematopoietic Stem Cell Transplant Without Conditioning to Reconstitute a Patient with a Putative Loss-of-Function CARD11 Mutation. J Clin Immunol 40, 1163–1165 (2020). https://doi.org/10.1007/s10875-020-00846-y

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  • DOI: https://doi.org/10.1007/s10875-020-00846-y

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