Hematopoietic SCT in children with Griscelli syndrome: a single-center experience

Abstract

In total, 11 consecutive pediatric patients with Griscelli syndrome (GS) type 2, who received allogeneic hematopoietic SCT (aHSCT) at our center between 1993 and 2007, were reviewed. The median age at transplantation was 8.2 months (range, 4-36.3 months) and the median time from diagnosis to transplantation was 3.7 months (range, 1.4-19.5 months). Seven patients developed an accelerated phase and were treated with chemotherapy before transplantation. At the time of transplantation, all patients were in clinical remission. The source of grafts was matched-related marrows in eight patients and partially mismatched unrelated cords in three patients. All patients were engrafted at a median time of 15 days (range, 12-36 days). Grade I-II acute GVHD and venoocclusive disease occurred in three and one patient, respectively. A total of 10 patients are now alive and disease free at a median of 4.8 years post-HSCT. The post transplant course was complicated by CMV infection in four patients. One patient died in remission from septic shock, 6 months after transplantation. Chimerism studies at the last contact are available for nine patients: six patients have complete donor chimerism and three have stable mixed chimerism. Early aHSCT from matchedrelated donors or unrelated cord blood for children with GS is feasible.

Reduced‐intensity conditioning haematopoietic cell transplantation for haemophagocytic lymphohistiocytosis: an important step forward

“…These studies [Horne et al , 2005 ( n = 86); Ouachee‐Chardin et al , 2006 ( n = 48); Baker et al , 2008 ( n = 91)] observed 3–5 year probabilities of survival ranging from 49% to 64% (Table I). Recent observations of predominantly Italian, Japanese, or Korean patients are similar (Cesaro et al , 2008; Ohga et al , 2010; Yoon et al , 2010), and experiences with Chediak–Higashi syndrome (Eapen et al , 2007) and Griscelli syndrome (Pachlopnik Schmid et al , 2009; Al‐Ahmari et al , 2010) have also been reported (Table I). Deaths in most series were predominantly before day +100, and related to early transplant‐related complications including non‐engraftment, hepatic, pulmonary toxicity, pneumonia, interstitial pneumonitis, bronchiolitis obilterans, idiopathic pneumonia syndrome, infections, organ failure, haemorrhage and graft‐ versus ‐host disease (GVHD), or to HLH.…”

Atypical Chédiak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion and with neurodegenerative disease

“…In the United States, transplant if routinely offered in advance of the accelerated phase of classic disease. In a single-center review of the use of hematopoietic stem cell transplantation (HSCT) in Griscelli syndrome type 2 [25], many patients continued to suffer major neurological deficits after HSCT, leading the authors to suggest that transplanting these patients prior to the accelerated phase could be beneficial. The presence of neurodegenerative signs appearing in classical CHS patients many years after BMT suggests that neurodegeneration may be related in part to defective lysosomal trafficking and vacuolar dysfunction.…”

Practice parameter for the diagnosis and management of primary immunodeficiency

“…The accelerated phase of GS2 is another form of FHL and is fatal without standard chemotherapy and immunosuppression (see SS 121). [445][446][447] Hermansky-Pudlak syndrome. Summary statement 118.…”