Partial albinism with immunodeficiency (Griscelli syndrome)

Klein, Christoph; Philippe, N; Deist, Françoise Le; Fraïtag, Sylvie; Prost, Cathérine; Durandy, Anne; Fischer, Alain; Griscelli, C

doi:10.1016/s0022-3476(05)82003-7

Cited by 196 publications

(220 citation statements)

References 31 publications

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“…This disease is rarer than CHS. 21 Impaired bactericidal activity, observed in two of the present patients, demonstrates the relevance of this mechanism, not linked to oxidative metabolism in bacterial lysis, as described previously. 14 Hypogammaglobulinemia and neutropenia are laboratory data observed in the accelerated phase.…”

Section: Discussionsupporting

confidence: 84%

Chédiak-Higashi syndrome: presentation of seven cases

et al. 1998

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CONTEXT: Chédiak-Higashi Syndrome (CHS) is a rare autosomal recessive disease characterized by recurrent infections, giant cytoplasmic granules, and oculocutaneous albinism. OBJECTIVE: To describe clinical and laboratory findings from CHS patients. DESIGN: Case report. SETTING: The patients were admitted into the Allergy and Immunology Unit of the Instituto da Criança, a tertiary public care institution. CASES REPORT: Seven patients had oculocutaneous albinism, recurrent infections and giant cytoplasmic granules in the leukocytes. One patient had low IgG levels and three showed impaired bactericidal activity of neutrophils. Six patients died of infectious complications during the accelerated phase. Therapy included ascorbic acid and antibiotics. Chemotherapy was used for the accelerated phase in two patients. Bone marrow transplantation (BMT) was proposed for one patient. DISCUSSION: The authors emphasize the need for early diagnosis and therapy of CHS. BMT should be indicated before the accelerated phase of the disease has developed.

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Section: Discussionsupporting

confidence: 84%

Chédiak-Higashi syndrome: presentation of seven cases

et al. 1998

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“…5 GS type 2 (partial albinism with immunodeficiency) is caused by mutation in the Rab27a (RAB27A) gene located on chromosome 15q21. 6,7 In the first few years of life, hemophagocytic lymphohistiocytosis (HLH) in these patients can be triggered by infections. 8 The prognosis is very poor unless early allogeneic hematopioetic SCT (aHSCT) is carried out, preferably before the development of the accelerated phase.…”

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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“…There is no cure for Griscelli Syndrome type I and the life of the patients depends on the severity of neurological impairment. For Griscelli Syndrome type 2 the treatment of choice is bone marrow transplantation [9], which yields better result when done early. Here is an example of how important it is to prepare the health care services to early recognise of this disease and propose effective treatment in time.…”

Section: Discussionmentioning

confidence: 99%

Griscelli Syndrome Type 2 With Hemophagocytic Lymphohistocytosis a Rare and Lethal Disorder

Meena

2013

Int J Clin Pediatr

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A two and half years old male child was admitted with silvery grey hair, recurrent chest infection, ear discharge, hepatosplenomegaly, pancytopenia and hemophagocytosis in bone marrow. Light microscopy of hair shaft showed large unevenly distributed melanin pigment. Skin biopsy showed large coarse aggregates of melanin and the basal layer of epidermis showed reactivity with Masson's fontana stain. Griscelli syndrome type 2 was made as diagnosis which was confirmed by mutation study which showed nonsense mutation of Exon 6 of RAB 27A gene. The child was in accelerated phase and succumbed to death.

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Partial albinism with immunodeficiency (Griscelli syndrome)

Cited by 196 publications

References 31 publications

Chédiak-Higashi syndrome: presentation of seven cases

Chédiak-Higashi syndrome: presentation of seven cases

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

Griscelli Syndrome Type 2 With Hemophagocytic Lymphohistocytosis a Rare and Lethal Disorder

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