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CASE REPORT article

Front. Immunol.
Sec. Primary Immunodeficiencies
Volume 15 - 2024 | doi: 10.3389/fimmu.2024.1507494

Advanced age at transplantation and pre-emptive treatment with dupilumab in DOCK8-deficiency

Provisionally accepted
Sophia Trombello Sophia Trombello 1,2Andre Willasch Andre Willasch 1Andrea Jarisch Andrea Jarisch 1Eva Rettinger Eva Rettinger 1Julia Fekadu-Siebald Julia Fekadu-Siebald 1Dirk Holzinger Dirk Holzinger 3,4Roland Adelmann Roland Adelmann 5Peter Bader Peter Bader 1Shahrzad Bakhtiar Shahrzad Bakhtiar 6*
  • 1 Goethe University Frankfurt, Frankfurt, Hesse, Germany
  • 2 Heidelberg University Hospital, Heidelberg, Baden-Württemberg, Germany
  • 3 Essen University Hospital, Essen, North Rhine-Westphalia, Germany
  • 4 University of Applied Sciences, Bochum, North Rhine-Westphalia, Germany
  • 5 Hospital Oberberg, Gummersbach, Germany
  • 6 University Hospital Frankfurt, Frankfurt, Germany

The final, formatted version of the article will be published soon.

    Dedicator of cytokinesis 8 (DOCK8) deficiency is a combined immunodeficiency (CID) due to biallelic mutations in the gene encoding DOCK8. Major clinical phenomena are recurrent severe infections of the lung and skin, atopic eczema, and predisposition to malignancy, leading to a poor prognosis. Typical findings include highly elevated IgE and eosinophilia. Allogeneic hematopoietic stem cell transplantation (alloHSCT) is indicated as the only curative treatment option. We present a patient with advanced disease undergoing alloHSCT at the age of 11 years after individualized pretreatment using dupilumab and rituximab resulting in a decrease of IgE levels and clinical improvement of the skin condition. Additionally, in a review of the literature, we summarize morbidity and outcome in DOCK8-deficient patients older than 8 years of age receiving alloHSCT. Life-threatening infections, malignancy and disease-related complications with organ damage pre-transplant are challenging in

    Keywords: DOCK8-deficiency, AlloHSCT, Dupilumab, Combined immunodeficiency, Omalizumab

    Received: 07 Oct 2024; Accepted: 02 Dec 2024.

    Copyright: © 2024 Trombello, Willasch, Jarisch, Rettinger, Fekadu-Siebald, Holzinger, Adelmann, Bader and Bakhtiar. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Shahrzad Bakhtiar, University Hospital Frankfurt, Frankfurt, Germany

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