ArticleThe journal of allergy and clinical immunology. In practice2019
Hematopoietic Stem Cell Transplantation as Treatment for Patients with DOCK8 Deficiency.
Article in The journal of allergy and clinical immunology. In practice, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers, 1 of them a synthesis that pooled it.
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Who cites it
48 citing papers in PubMed, 1 synthesis or guideline pooled it, 88 citations in OpenAlex.
- Indications for haematopoietic cell transplantation and CAR-T for haematological diseases, solid tumours and immune disorders: 2025 EBMT practice recommendations.Bone marrow transplantation · 2025Guideline
- Hematopoietic cell transplantation for DOCK8 deficiency: Results from a prospective clinical trial.The Journal of allergy and clinical immunology · 2025Trial
- Prospective Study of a Novel, Radiation-Free, Reduced-Intensity Bone Marrow Transplantation Platform for Primary Immunodeficiency Diseases.Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation · 2020Trial
- Pediatric DOCK8 Deficiency Beyond Infections and Atopy: An Immunoactinopathy with Immune Dysregulation and Multisystem Involvement.Children (Basel, Switzerland) · 2026Article
- Fungal Infections in Disorders of Inborn Errors of Immunity.Clinical reviews in allergy & immunology · 2026Review
- Primary atopic disorders: Monogenic insights into immunity.Journal of human immunity · 2026Review
- DOCK8 in immune cells: roles and mechanisms.Frontiers in immunology · 2026Review
- Case Report:Frontiers in pediatrics · 2026Article
- Hematopoietic stem cell transplantation for DOCK8 deficiency: durable immune reconstitution and long-term survival in 47 patients.Frontiers in immunology · 2026Article
- Haploidentical stem cell transplantation in DOCK8 deficiency: a case report of successful outcomes.Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis · 2025Article
- Inborn errors of immunity with atopic phenotypes in the allergy and immunology clinic: a practical review.Current opinion in allergy and clinical immunology · 2025Review
- Hyper IgE Syndromes: Understanding, Management, and Future Perspectives: A Narrative Review.Health science reports · 2025Article
- The genetics of hyper IgE syndromes.Frontiers in immunology · 2025Review
- Clinical and molecular profile of 20 patients with DOCK8 deficiency-a single-center experience from Southern India.Immunologic research · 2024Article
- Pathophysiology of Congenital High Production of IgE and Its Consequences: A Narrative Review Uncovering a Neglected Setting of Disorders.Life (Basel, Switzerland) · 2024Review
- Insights into the clinical, immunologic, and genetic underpinnings of food allergy.Immunological reviews · 2024Review
- Emerging Spectrum of DOCK8 Deficiency in Children and Challenges Associated with Providing Treatment.Indian journal of pediatrics · 2024Article
- Article
- Case report: Advanced age at transplantation and pre-emptive treatment with dupilumab in DOCK8 deficiency.Frontiers in immunology · 2024Article
- Successful treatment of DOCK8 deficiency by allogeneic hematopoietic cell transplantation from alternative donors.International journal of hematology · 2023Article
Corrections and comments
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Authors and funding
43 authors at 20 institutions in 13 countries.
Funding
Abstract
backgroundBiallelic variations in the dedicator of cytokinesis 8 (DOCK8) gene cause a combined immunodeficiency with eczema, recurrent bacterial and viral infections, and malignancy. Natural disease outcome is dismal, but allogeneic hematopoietic stem cell transplantation (HSCT) can cure the disease.
objectiveTo determine outcome of HSCT for DOCK8 deficiency and define possible outcome variables.
methodsWe performed a retrospective study of the results of HSCT in a large international cohort of DOCK8-deficient patients.
resultsWe identified 81 patients from 22 centers transplanted at a median age of 9.7 years (range, 0.7-27.2 years) between 1995 and 2015. After median follow-up of 26 months (range, 3-135 months), 68 (84%) patients are alive. Severe acute (III-IV) or chronic graft versus host disease occurred in 11% and 10%, respectively. Causes of death were infections (n = 5), graft versus host disease (5), multiorgan failure (2), and preexistent lymphoma (1). Survival after matched related (n = 40) or unrelated (35) HSCT was 89% and 81%, respectively. Reduced-toxicity conditioning based on either treosulfan or reduced-dose busulfan resulted in superior survival compared with fully myeloablative busulfan-based regimens (97% vs 78%; P = .049). Ninety-six percent of patients younger than 8 years at HSCT survived, compared with 78% of those 8 years and older (P = .06). Of the 73 patients with chimerism data available, 65 (89%) had more than 90% donor T-cell chimerism at last follow-up. Not all disease manifestations responded equally well to HSCT: eczema, infections, and mollusca resolved quicker than food allergies or failure to thrive.
conclusionsHSCT is curative in most DOCK8-deficient patients, confirming this approach as the treatment of choice. HSCT using a reduced-toxicity regimen may offer the best chance for survival.
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