Case report: Advanced age at transplantation and pre-emptive treatment with dupilumab in DOCK8 deficiency
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 lungs and skin, atopic eczema, and predisposition to malignancy leading to a poor prognosis. Typic...
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Frontiers Media S.A.
2025-01-01
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| Series: | Frontiers in Immunology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fimmu.2024.1507494/full |
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| author | Sophia Trombello Sophia Trombello Andrea Jarisch Andre Willasch Eva Rettinger Julia Fekadu-Siebald Dirk Holzinger Dirk Holzinger Roland Adelmann Peter Bader Shahrzad Bakhtiar |
| author_facet | Sophia Trombello Sophia Trombello Andrea Jarisch Andre Willasch Eva Rettinger Julia Fekadu-Siebald Dirk Holzinger Dirk Holzinger Roland Adelmann Peter Bader Shahrzad Bakhtiar |
| author_sort | Sophia Trombello |
| collection | DOAJ |
| description | 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 lungs 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 pre-treatment using dupilumab and rituximab resulting in a decrease in 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 older DOCK8-deficient patients. The therapeutic role of dupilumab in DOCK8 deficiency should be evaluated in larger studies. |
| format | Article |
| id | doaj-art-6f87ac36969c4c5e98fb76abcb94ef12 |
| institution | Kabale University |
| issn | 1664-3224 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Immunology |
| spelling | doaj-art-6f87ac36969c4c5e98fb76abcb94ef122025-01-28T06:41:06ZengFrontiers Media S.A.Frontiers in Immunology1664-32242025-01-011510.3389/fimmu.2024.15074941507494Case report: Advanced age at transplantation and pre-emptive treatment with dupilumab in DOCK8 deficiencySophia Trombello0Sophia Trombello1Andrea Jarisch2Andre Willasch3Eva Rettinger4Julia Fekadu-Siebald5Dirk Holzinger6Dirk Holzinger7Roland Adelmann8Peter Bader9Shahrzad Bakhtiar10Division for Stem Cell Transplantation and Immunology, Department for Pediatrics, Goethe University Hospital Frankfurt, Frankfurt am Main, GermanyChildren’s Hospital, Heidelberg University Hospital, Heidelberg, GermanyDivision for Stem Cell Transplantation and Immunology, Department for Pediatrics, Goethe University Hospital Frankfurt, Frankfurt am Main, GermanyDivision for Stem Cell Transplantation and Immunology, Department for Pediatrics, Goethe University Hospital Frankfurt, Frankfurt am Main, GermanyDivision for Stem Cell Transplantation and Immunology, Department for Pediatrics, Goethe University Hospital Frankfurt, Frankfurt am Main, GermanyDivision for Stem Cell Transplantation and Immunology, Department for Pediatrics, Goethe University Hospital Frankfurt, Frankfurt am Main, GermanyDepartment of Pediatric Hematology-Oncology, University of Duisburg-Essen, Essen, GermanyDepartment of Applied Health Sciences, University of Applied Sciences Bochum, Bochum, GermanyDepartment for Children and Adolescents Medicine, Hospital Oberberg, Gummersbach, GermanyDivision for Stem Cell Transplantation and Immunology, Department for Pediatrics, Goethe University Hospital Frankfurt, Frankfurt am Main, GermanyDivision for Stem Cell Transplantation and Immunology, Department for Pediatrics, Goethe University Hospital Frankfurt, Frankfurt am Main, GermanyDedicator 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 lungs 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 pre-treatment using dupilumab and rituximab resulting in a decrease in 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 older DOCK8-deficient patients. The therapeutic role of dupilumab in DOCK8 deficiency should be evaluated in larger studies.https://www.frontiersin.org/articles/10.3389/fimmu.2024.1507494/fullDOCK8-deficiencyalloHSCTdupilumabcombined immunodeficiencyomalizumab |
| spellingShingle | Sophia Trombello Sophia Trombello Andrea Jarisch Andre Willasch Eva Rettinger Julia Fekadu-Siebald Dirk Holzinger Dirk Holzinger Roland Adelmann Peter Bader Shahrzad Bakhtiar Case report: Advanced age at transplantation and pre-emptive treatment with dupilumab in DOCK8 deficiency Frontiers in Immunology DOCK8-deficiency alloHSCT dupilumab combined immunodeficiency omalizumab |
| title | Case report: Advanced age at transplantation and pre-emptive treatment with dupilumab in DOCK8 deficiency |
| title_full | Case report: Advanced age at transplantation and pre-emptive treatment with dupilumab in DOCK8 deficiency |
| title_fullStr | Case report: Advanced age at transplantation and pre-emptive treatment with dupilumab in DOCK8 deficiency |
| title_full_unstemmed | Case report: Advanced age at transplantation and pre-emptive treatment with dupilumab in DOCK8 deficiency |
| title_short | Case report: Advanced age at transplantation and pre-emptive treatment with dupilumab in DOCK8 deficiency |
| title_sort | case report advanced age at transplantation and pre emptive treatment with dupilumab in dock8 deficiency |
| topic | DOCK8-deficiency alloHSCT dupilumab combined immunodeficiency omalizumab |
| url | https://www.frontiersin.org/articles/10.3389/fimmu.2024.1507494/full |
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