Studies | EBMT

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Study type

Disease

Group

Type of transplant / Cell therapy

Text

Language

IL2Rα and IL2Rβ Deficiencies - Clinical Phenotype and HSCT Outcome, a joint ESID/EBMT IEWP study

Retrospective Studies

Inherited disorders

Inborn Errors Working Party (IEWP)

Type of treatment

Principal investigator

Christo Tsilifis, Ina Schim van der Loeff, Lisa Ott de Bruin, Florian Goethe, Ommo Mauss, Mehtap Sirin, Mary Slatter, Sophie Hambleton

Indications and outcomes of HSCT for MSMD due to defects of IL12- and IL23-signalling

Retrospective Studies

Inherited disorders

Inborn Errors Working Party (IEWP)

Type of treatment

Principal investigator

Tanja Vallée and Michael Albert

Clinical features, HSCT indications and outcome of HSCT in Ras-Associated Autoimmune Leukoproliferative Disorder (RALD), a joint ESID/EBMT IEWP study

Retrospective Studies

Inherited disorders

Inborn Errors Working Party (IEWP)

Type of treatment

Allogeneic - Related

Allogeneic - Unrelated

Allogeneic - Haploidentical

Principal investigator

Alexandra Laberko, Srividhya Senthil, Andrew Gennery

Clinical presentations, treatments, and outcomes in an international cohort with ZNFX1 deficiency

Retrospective Studies

Inherited disorders

Inborn Errors Working Party (IEWP)

Type of treatment

Allogeneic - Related

Allogeneic - Unrelated

Allogeneic - Haploidentical

Principal investigator

Outcomes of Haematopoietic Stem Cell Transplant for MHC Class II deficiency

Retrospective Studies

Inherited disorders

Inborn Errors Working Party (IEWP)

Type of treatment

Allogeneic - Related

Allogeneic - Unrelated

Allogeneic - Haploidentical

Principal investigator

Kanchan Rao and Isabelle Meyts

Allogeneic haematopoietic stem cell transplantation in infantile osteopetrosis

Retrospective Studies

Inherited disorders

Inborn Errors Working Party (IEWP)

Type of treatment

Allogeneic - Related

Allogeneic - Unrelated

Allogeneic - Haploidentical

Principal investigator

Allogeneic hematopoietic stem cell transplantation in cartillage hair hypoplasia (CHH); a joint EBMT-CIBMTR study

Retrospective Studies

Inherited disorders

Inborn Errors Working Party (IEWP)

Type of treatment

Principal investigator

Outcome of haematopoietic stem cell transplant (HSCT) in patients with Chediak Higashi syndrome

Retrospective Studies

Inherited disorders

Inborn Errors Working Party (IEWP)

Type of treatment

Principal investigator

Setting the stage for newborn screening and gene therapy: a disease-specific retrospective survey of FHL2 and 3

Retrospective Studies

Inherited disorders

Inborn Errors Working Party (IEWP)

Type of treatment

Principal investigator

Stephan Ehl, Despina Moshous, Claire Booth, Sujal Ghosh

A prospective outcome study on patients with profound combined immune deficiency (p-CID)

Retrospective Studies

Inborn Errors Working Party (IEWP)

Type of treatment

Principal investigator

HSCT experience in patients with Interferon gamma receptor deficiencies

Retrospective Studies

Inherited disorders

Inborn Errors Working Party (IEWP)

Type of treatment

Principal investigator