A syndrome associating partial albinism and immunodeficiency

Griscelli, C; Durandy, Anne; Guy‐Grand, Delphine; Daguillard, F; Herzog, C.; Pruniéras, M

doi:10.1016/0002-9343(78)90858-6

Cited by 342 publications

(257 citation statements)

References 34 publications

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“…Unlike ChediakHigashi syndrome, granulocytes in GS do not show giant granules. 1,2 GS is classified into three types on the basis of genetic and molecular features. GS type 1 is caused by a mutation in the myosin Va (MYO5A) gene located on chromosome 15q21, which regulates organelle transport in both melanocytes and neuronal cells.…”

Section: Introductionmentioning

confidence: 99%

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

Al-Ahmari

Al-Ghonaium

Al-mansoori

et al. 2010

Bone Marrow Transplant

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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.

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Section: Introductionmentioning

confidence: 99%

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

Al-Ahmari

Al-Ghonaium

Al-mansoori

et al. 2010

Bone Marrow Transplant

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“…Chédiak-Higashi syndrome is characterized by giant melanosomes in the melanocytes and keratinocytes of the skin, and Elejalde syndrome by incomplete melanisation of the melanosomes in the melanocytes. 1,5 In Elejalde syndrome, recurrent accelerated phases of the syndrome have not been reported. 9 Mutations on chromosome 15q21 in the myosin Va gene and in the RAB27A gene have been identified in Griscelli syndrome.…”

Section: Discussionmentioning

confidence: 99%

Griscelli syndrome: report of the first peripheral blood stem cell transplant and the role of mutations in the RAB27A gene as an indication for BMT

Schuster

Stachel

Schmid

et al. 2001

Bone Marrow Transplant

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“…4 First reports of this new clinical entity, distinct from Chediak-Higashi syndrome (OMIM 214500) (CHS), were provided simultaneously in 1978 by Griscelli et al 1 and by Siccardi et al 2 In 1997 Pastural et al 5 found a homozygous C2332T truncating mutation of the gene encoding myosin VA (MYO5A) in a Turkish girl with GS. Other mutations of the same gene were reported in other cases.…”

mentioning

confidence: 99%

“…As mentioned above, GS is a very rare disease, with about 30 cases reported over the past 20 years; [1][2][3][4][7][8][9][10][11] it is usually fatal within the first few years of life, due to HLH, which in most cases is triggered by common infections. We report a new case of GS in an Italian child cured after HSCT from a matched unrelated donor.…”

mentioning

confidence: 99%

Successful treatment of Griscelli syndrome with unrelated donor allogeneic hematopoietic stem cell transplantation

Aricò

Zecca

Santoro

et al. 2002

Bone Marrow Transplant

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Summary:Griscelli syndrome (GS) is a rare autosomal recessive disorder, characterized by pigmentary dilution of the skin and hair and in most patients by abnormal regulation of the immune system, which results in a syndrome of macrophage hyperactivation, known as hemophagocytic lymophohistiocytosis (HLH). Allogeneic hematopoietic stem cell transplantation (HSCT) is the only curative treatment available for genetically induced HLH. Few cases of successful HSCT from a compatible donor have been reported in children with GS. We describe the first patient with GS cured with an allograft from a compatible unrelated bone marrow donor. We used a novel preparative regimen consisting of busulfan, thiotepa and fludarabine. The demonstrated curative effect of HSCT from an unrelated donor in a patient with genetically determined HLH also supports the use of a systematic diagnostic approach in these patients, in order to identify those with a worse prognosis and needing an urgent allograft in a timely manner. Bone Marrow Transplantation (2002) 29, 995-998.

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A syndrome associating partial albinism and immunodeficiency

Cited by 342 publications

References 34 publications

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

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

Griscelli syndrome: report of the first peripheral blood stem cell transplant and the role of mutations in the RAB27A gene as an indication for BMT

Successful treatment of Griscelli syndrome with unrelated donor allogeneic hematopoietic stem cell transplantation

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