Reviewing Omenn syndrome

Aleman, Kees; Noordzij, Jeroen G.; Groot, Ronald de; Dongen, Jacques J. M. van; Hartwig, Nico G.

doi:10.1007/s004310100816

Cited by 110 publications

(108 citation statements)

References 33 publications

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“…13 A recent review analyzed the outcome of 68 OS patients reported in the literature between 1965-1999. 2 The overall mortality of 41 evaluable patients was 59%; in particular, 69% of the untransplanted patients died within the first year of life, whereas mortality of the 28 transplanted OS patients was shown to be 46%.…”

mentioning

confidence: 96%

“…1 Other common symptoms include diarrhea, alopecia, and failure to thrive. 2 Occasionally, a similar clinical phenotype may be noticed in other immunodeficiency syndromes, [3][4][5][6] and particularly in SCID with maternal T-cell engraftment.…”

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confidence: 97%

“…12 In the past, satisfactory results have been obtained mostly with HSCT from HLA-matched family donors, whereas significant mortality and long-term morbidity have been reported in the literature for HSCT from mismatched family donors or from matched unrelated donors (MUD). 2,12,13 In particular, experience at a single center using related donors has resulted in 66.7% overall survival; 12 a lower success rate (16.7% survival) has been reported in another study focusing on mismatched related or matched unrelated bone marrow transplantation. 13 A recent review analyzed the outcome of 68 OS patients reported in the literature between 1965-1999.…”

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confidence: 99%

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Hematopoietic stem cell transplantation in Omenn syndrome: a single-center experience

Mazzolari

Moshous

Forino

et al. 2005

Bone Marrow Transplant

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confidence: 96%

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confidence: 97%

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confidence: 99%

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Hematopoietic stem cell transplantation in Omenn syndrome: a single-center experience

Mazzolari

Moshous

Forino

et al. 2005

Bone Marrow Transplant

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“…OS features a specific spectrum of clinical manifestations including erythroderma, lymphadenopathy, and frequent severe infections (1,2). Mutations in RAG1 and RAG2 and less frequently in the DCLRE1C gene, encoding the Artemis protein, or other loci have been identified in OS patients (3)(4)(5)(6)(7).…”

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confidence: 99%

Biochemical and Folding Defects in a RAG1 Variant Associated with Omenn Syndrome

Simkus

Anand

Bhattacharyya

et al. 2007

The Journal of Immunology

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The RAG1 and RAG2 proteins are required to assemble mature Ag receptor genes in developing lymphocytes. Hypomorphic mutations in the gene encoding RAG1 are associated with Omenn syndrome, a primary immunodeficiency. We explored the biochemical defects resulting from a mutation identified in an Omenn syndrome patient which generates an amino acid substitution in the RAG1 RING finger/ubiquitin ligase domain (C325Y in murine RAG1) as well as an adjacent substitution (P326G). RAG1 C325Y demonstrated a 50-fold reduction in recombination activity in cultured pro-B cells despite the fact that its expression and localization to the nucleus were similar to the wild-type protein. The C325Y substitution severely abrogated ubiquitin ligase activity of the purified RAG1 RING finger domain, and the tertiary structure of the domain was altered. The P326G substitution also abrogated ubiquitin ligase activity but had a less severe effect on protein folding. RAG1 P326G also demonstrated a recombination impairment that was most pronounced when RAG1 levels were limiting. Thus, a correctly folded RAG1 RING finger domain is required for normal V(D)J recombination, and RAG1 ubiquitin ligase activity can contribute when the protein is present at relatively low levels.

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“…10 Omenn-like syndrome is the engraftment of maternal T-cells in a child with a T-SCID, which is clinically reminiscent of Omenn syndrome. [11][12] Case report…”

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confidence: 99%

Successful unrelated cord blood transplantation in two children with severe combined immunodeficiency syndrome

Fagioli

Biasin

Berger

et al. 2003

Bone Marrow Transplant

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Summary:We describe the successful unrelated cord blood transplantation in two patients affected by a Zap-70 deficiency and an Omenn-like syndrome, respectively. The patients were hospitalised for recurrent infections at the age of 13 and 2 months, respectively. An unrelated cord blood unit was found for each. The conditioning regimen was cyclophosphamide, busulfan and antithymocyte globulin. The total number of infused cells was 15.1 Â 10 7 /kg and 17 Â 10 7 /kg, respectively. Neutrophil engraftment was achieved on days +15 and +23, and platelet count 450 Â 10 9 /l was achieved on days +21 and +52, respectively. One patient presented acute Graft-versushost disease (GVHD) grade I and the other grade III. Chimerism was mixed and full donor. Normal lymphoproliferative response to mitogens and alloantigens was detectable at 6 months for both. No chronic GVHD was observed in either. The patients are alive and well at 53 and 15 months after transplantation. In conclusion, umbilical cord blood represents a valid alternative source of haemopoietic stem cells.

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Reviewing Omenn syndrome

Abstract: Omenn syndrome is a fatal disease if untreated. The mortality may be reduced when diagnosis is established early and treatment is initiated rapidly by using early compatible bone marrow transplantation or cord blood stem cell transplantation.

Cited by 110 publications

References 33 publications

Hematopoietic stem cell transplantation in Omenn syndrome: a single-center experience

Hematopoietic stem cell transplantation in Omenn syndrome: a single-center experience

Biochemical and Folding Defects in a RAG1 Variant Associated with Omenn Syndrome

Successful unrelated cord blood transplantation in two children with severe combined immunodeficiency syndrome

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