Poster Abstracts
Grand Hall CD (Manchester Grand Hyatt)
Rae Brager, MD
,
Haematology/Oncology, Hospital for Sick Children, Toronto, ON, Canada
Alison Haynes, MD
,
Allergy and Immunology, Hospital for Sick Children, Toronto, ON, Canada
Eyal Grunebaum, MD
,
Immunology and Allergy/ BMT Program, Hospital for Sick Children, Toronto, ON, Canada
Manfred Hoenig, MD
,
Universitätsklinik für Kinder- und Jugendmedizin, Ulm, Germany
Hamoud Al-Mousa, MD
,
Pediatric, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia
Waleed Al-Herz, MD
,
Pediatrics Department, Faculty of Medicine, Kuwait University, Kuwait, Kuwait
Neena Kapoor, MD
,
Division of Hematology, Oncology and Blood & Marrow Transplantation, Children's Hospital Los Angeles, Los Angeles, CA
Chaim Roifman
,
Division of Immunology & Allergy, The Hospital for Sick Children, Toronto, ON, Canada
Presentation recording not available for download or distribution as requested by the presenting author.
ZAP70 (zeta-associated protein of 70 KDa) deficiency is a fatal form of combined immunodeficiency that can be cured with hematopoietic stem cell transplantation (HSCT). The normal number of thymocytes, polyclonal CD3⁺ T cells and B cells may require special considerations in choosing the most effective regimen of conditioning and the type of HSCT. We analyzed presentation and outcome of patients with ZAP70 deficiency who received various modalities of stem cell transplantation.
Data on 19 patients with ZAP70 deficiency were examined, of whom 16 underwent HSCT in 7 different counties. HSCT was performed by using different sources of donor stem cells as well as various conditioning regimens.
Most patients presented with typical repeated microbial and fungal infections; one patient presented with lymphoma. Close family members appear to have a high frequency of autoimmunity. Sixteen of nineteen patients were treated with HSCT. Nine patients received a MRD and 8/9 survived, four patients had MUD transplants and all survived and 3 had a MMRD transplant of which only one survived. Immune reconstitution was complete and durable in patients who received myeloablative conditioning. Lack of conditioning failed in two patients and resulted in partial immune reconstitution in the other patients.
Based on these data, we conclude that carriers of monoallelic mutations in ZAP70 may be susceptible to autoimmunity. HLA matched donor and myeloablative conditioning result in superior outcome and long-term robust immune reconstitution.
Disclosures:
Nothing To Disclose
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