uu.seUppsala University Publications
Change search
ReferencesLink to record
Permanent link

Direct link
Hematopoietic stem cell transplantation in severe congenital neutropenia
Show others and affiliations
2011 (English)In: Pediatric Blood & Cancer, ISSN 1545-5009, E-ISSN 1545-5017, Vol. 56, no 3, 444-451 p.Article in journal (Refereed) Published
Abstract [en]


Severe congenital neutropenia (SCN) is an immunodeficiency characterized by disturbed myelopoiesis and an absolute neutrophil count (ANC) <0.5 × 10(9)/L. SCN is also a premalignant condition; a significant proportion of patients develop myelodysplastic syndrome or leukemia (MDS/L). Allogeneic hematopoietic stem cell transplantation (HSCT) is the only curative treatment for SCN.


Since 2004, eight HSCT have been performed in seven patients at our center. The indications were transformation to MDS/L (n = 2), granulocyte colony-stimulating factor receptor (CSF3R) mutation(s) (n = 2), granulocyte colony-stimulating factor (G-CSF) resistance (n = 2), and at the patient's own request (n = 1).


The mean age at transplantation was 13 years (2.8-28 years) (mean follow-up 32 months, range 21-60). Three patients harbored ELANE mutations, three HAX1 mutations, and in one patient no causative mutation was identified. Two of the ELANE mutations were novel mutations. Three patients initially received myeloablative conditioning and four had reduced intensity conditioning (RIC). Three grafts were from HLA-identical siblings, three from matched unrelated donors and two were cord blood units. Engraftment occurred in all patients. Two of seven (29%) patients died; both had MDS/L and both were among the three that underwent myeloablative conditioning. One patient has chronic GVHD 2 years post-transplant.


The role of HSCT should be explored further in patients with SCN. In particular, the influence of the conditioning regime needs to be evaluated in a larger cohort of patients.

Place, publisher, year, edition, pages
2011. Vol. 56, no 3, 444-451 p.
National Category
Clinical Medicine
URN: urn:nbn:se:uu:diva-233809DOI: 10.1002/pbc.22836PubMedID: 21072829OAI: oai:DiVA.org:uu-233809DiVA: diva2:754357
Available from: 2014-10-10 Created: 2014-10-10 Last updated: 2014-10-14Bibliographically approved

Open Access in DiVA

No full text

Other links

Publisher's full textPubMed
In the same journal
Pediatric Blood & Cancer
Clinical Medicine

Search outside of DiVA

GoogleGoogle Scholar
The number of downloads is the sum of all downloads of full texts. It may include eg previous versions that are now no longer available

Altmetric score

Total: 173 hits
ReferencesLink to record
Permanent link

Direct link