Allergol Int. 2006 Jun;55(2):115-9.

Omenn syndrome--review of several phenotypes of Omenn syndrome and RAG1/RAG2 mutations in Japan.

Kato M, Kimura H, Seki M, Shimada A, Hayashi Y, Morio T, Kumaki S, Ishida Y, Kamachi Y, Yachie A.

Source

Department of Allergy and Immunology, Gunma Children's Medical Center, Hokkitsu, Gunma, Japan. mkato@shibukawa, gcmc.pref.gunma.jp

Abstract

Omenn syndrome (OS) is a form of severe combined immunodeficiency (SCID) characterized by erythrodermia, hepatosplenomegaly, lymphadenopathy, and alopecia. In patients with OS, B cells are mostly absent, T-cell counts are normal to elevated, and T cells are frequently activated and express a restricted T-cell receptor (TCR) repertoire. Thus far, inherited hypomorphic mutations of the recombination activating genes either 1 or 2 (RAG1/2) have been detected in most OS patients. We have recently experienced a rare case of OS showing the revertant mosaicism due to multiple second-site mutations leading to typical OS clinical features with RAG1-deficient SCID. In this review, we will focus on the variation of several phenotypes of OS.

PMID:: 17075247; [PubMed - indexed for MEDLINE]

Free full text

Publication Types, MeSH Terms, Substances

Publication Types

Review

MeSH Terms

Substances

LinkOut - more resources

Full Text Sources

Medical

Supplemental Content

Icon for Japanese Society of Allergology

Save items

Related citations in PubMed

Omenn syndrome due to ARTEMIS mutations. [Blood. 2005]
Omenn syndrome due to ARTEMIS mutations.
Ege M, Ma Y, Manfras B, Kalwak K, Lu H, Lieber MR, Schwarz K, Pannicke U. Blood. 2005 Jun 1; 105(11):4179-86. Epub 2005 Feb 24.
Omenn syndrome with mutation in RAG1 gene. [Indian J Pediatr. 2008]
Omenn syndrome with mutation in RAG1 gene.
Jaouad IC, Ouldim K, Ali Ou Alla S, Kriouile Y, Villa A, Sefiani A. Indian J Pediatr. 2008 Sep; 75(9):944-6. Epub 2008 Nov 15.
Oligoclonal expansion of T lymphocytes with multiple second-site mutations leads to Omenn syndrome in a patient with RAG1-deficient severe combined immunodeficiency. [Blood. 2005]
Oligoclonal expansion of T lymphocytes with multiple second-site mutations leads to Omenn syndrome in a patient with RAG1-deficient severe combined immunodeficiency.
Wada T, Toma T, Okamoto H, Kasahara Y, Koizumi S, Agematsu K, Kimura H, Shimada A, Hayashi Y, Kato M, et al. Blood. 2005 Sep 15; 106(6):2099-101. Epub 2005 Apr 21.
Review Omenn syndrome: a disorder of Rag1 and Rag2 genes. [J Clin Immunol. 1999]
Review Omenn syndrome: a disorder of Rag1 and Rag2 genes.
Villa A, Santagata S, Bozzi F, Imberti L, Notarangelo LD. J Clin Immunol. 1999 Mar; 19(2):87-97.
Review Omenn syndrome: a lack of tolerance on the background of deficient lymphocyte development and maturation. [Curr Opin Rheumatol. 2006]
Review Omenn syndrome: a lack of tolerance on the background of deficient lymphocyte development and maturation.
Hönig M, Schwarz K. Curr Opin Rheumatol. 2006 Jul; 18(4):383-8.

See reviews... See all...

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
Gene
Gene records that cite the current articles. Citations in Gene are added manually by NCBI or imported from outside public resources.
Gene (GeneRIF)
Gene records that have the current articles as Reference into Function citations (GeneRIFs). NLM staff reviewing the literature while indexing MEDLINE add GeneRIFs manually.
HomoloGene
HomoloGene clusters of homologous genes and sequences that cite the current articles. These are references on the Gene and sequence records in the HomoloGene entry.
Nucleotide (RefSeq)
NCBI nucleotide Reference Sequences (RefSeqs) that are cited in the current articles, included in the corresponding Gene Reference into Function, or that include the PubMed articles as references.
Nucleotide (Weighted)
Nucleotide records associated with the current articles through the Gene database. These are the related sequences on the Gene record that are added manually by NCBI.
OMIM (calculated)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as references in the light bulb links within or in the citations at the end of the OMIM record. The references available through the light bulb link are collected using the PubMed related articles algorithm to identify records with similar terminology to the OMIM record.
Protein (RefSeq)
NCBI protein Reference Sequences (RefSeqs) that are cited in the current articles, included in the corresponding Gene Reference into Function, or that include the PubMed articles as references.
Protein (Weighted)
Protein records associated with the current articles through related Gene database records. These are the related sequences on the Gene record that are added manually by NCBI.
Substance (MeSH Keyword)
PubChem chemical substance (submitted) records that are classified under the same Medical Subject Headings (MeSH) controlled vocabulary as the current articles.
Taxonomy via GenBank
Taxonomy records associated with the current articles through taxonomic information on related molecular database records (Nucleotide, Protein, Gene, SNP, Structure).
UniGene
UniGene clusters of expressed sequences that are associated with the current articles through references on the clustered sequence records and related Gene records.
GEO Profiles
Gene Expression Omnibus (GEO) Profiles of molecular abundance data. The current articles are references on the Gene record associated with the GEO profile.

Recent activity

Clear Turn Off Turn On

Omenn syndrome--review of several phenotypes of Omenn syndrome and RAG1/RAG2 mut...
Omenn syndrome--review of several phenotypes of Omenn syndrome and RAG1/RAG2 mutations in Japan.
Allergol Int. 2006 Jun ;55(2):115-9.

PubMed
Characterization of two potentially universal turn motifs that shape the repeate...
Characterization of two potentially universal turn motifs that shape the repeated five-residues fold--crystal structure of a lumenal pentapeptide repeat protein from Cyanothece 51142.
Protein Sci. 2006 Nov ;15(11):2579-95.

PubMed
Periodic rewetting enhances the viability of chondrocytes in human articular car...
Periodic rewetting enhances the viability of chondrocytes in human articular cartilage exposed to air.
J Bone Joint Surg Br. 2006 Nov ;88(11):1528-32.

PubMed
Emergence and predominance of an H5N1 influenza variant in China.
Emergence and predominance of an H5N1 influenza variant in China.
Proc Natl Acad Sci U S A. 2006 Nov 7 ;103(45):16936-41. Epub 2006 Oct 30 .

PubMed
Acute and longer-term outcomes in depressed outpatients requiring one or several...
Acute and longer-term outcomes in depressed outpatients requiring one or several treatment steps: a STAR*D report.
Am J Psychiatry. 2006 Nov ;163(11):1905-17.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to: