Omenn syndrome

Common Name(s)

Omenn syndrome

Omenn syndrome is an autosomal recessive form of severe combined immunodeficiency (SCID) characterized by erythroderma (skin redness), desquamation (peeling skin), alopecia (hair loss), chronic diarrhea, failure to thrive, lymphadenopathy (enlarged lymph nodes), eosinophilia, hepatosplenomegaly, and elevated serum IgE levels.  Patients are highly susceptible to infection and develop fungal, bacterial, and viral infections typical of SCID. In this syndrome, the SCID is associated with low IgG, IgA, and IgM and the virtual absence of B cells. There is an elevated number of T cells, but their function is impaired. Omenn syndrome has been found to be caused by mutations in the RAG1 or RAG2 genes.  Additional causative genes have been identified. Early recognition of this condition is important for genetic counseling and early treatment. If left untreated, Omenn syndrome is fatal. The prognosis may be improved  with early diagnosis and treatment with  compatible bone marrow or cord blood stem cell transplantation.
 

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Condition Specific Organizations

Following organizations serve the condition "Omenn syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Omenn syndrome" returned 27 free, full-text research articles on human participants. First 3 results:

Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency.
 

Author(s): Sebastian Fuchs, Anne Rensing-Ehl, Ulrich Pannicke, Myriam R Lorenz, Paul Fisch, Yogesh Jeelall, Jan Rohr, Carsten Speckmann, Thomas Vraetz, Susan Farmand, Annette Schmitt-Graeff, Marcus Kr├╝ger, Brigitte Strahm, Philipp Henneke, Anselm Enders, Keisuke Horikawa, Christopher Goodnow, Klaus Schwarz, Stephan Ehl

Journal: Blood. 2015 Oct;126(14):1658-69.

 

Omenn syndrome (OS) is a severe immunodeficiency associated with erythroderma, lymphoproliferation, elevated IgE, and hyperactive oligoclonal T cells. A restricted T-cell repertoire caused by defective thymic T-cell development and selection, lymphopenia with homeostatic proliferation, ...

Last Updated: 2 Oct 2015

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Compound heterozygous mutation of Rag1 leading to Omenn syndrome.
 

Author(s): Adam G W Matthews, Christine E Briggs, Keiichi Yamanaka, Trudy N Small, Jana L Mooster, Francisco A Bonilla, Marjorie A Oettinger, Manish J Butte

Journal:

 

Omenn syndrome is a primary immunodeficiency disorder, featuring susceptibility to infections and autoreactive T cells and resulting from defective genomic rearrangement of genes for the T cell and B cell receptors. The most frequent etiologies are hypomorphic mutations in "non-core" ...

Last Updated: 8 Apr 2015

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RAG1 reversion mosaicism in a patient with Omenn syndrome.
 

Author(s): Elena Crestani, Sharon Choo, Francesco Frugoni, Yu Nee Lee, Stephanie Richards, Joanne Smart, Luigi D Notarangelo

Journal: J. Clin. Immunol.. 2014 Jul;34(5):551-4.

 

To identify mechanisms of disease in a child born to consanguineous parents, who presented with Omenn syndrome (OS) and was found to carry a heterozygous RAG1 mutation in peripheral blood DNA.

Last Updated: 4 Jun 2014

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Omenn syndrome" returned 4 free, full-text review articles on human participants. First 3 results:

Omenn Syndrome and DNA recombination defects.
 

Author(s): Akihiro Yachie

Journal: Nihon Rinsho Meneki Gakkai Kaishi. 2017 ;40(3):179-189.

 

Mutations in the RAG1/RAG2 genes are associated with a broad spectrum of clinical phenotypes, ranging from severe combined immunodeficiency to various autoimmune diseases. The diversity of the clinical symptoms is determined not only by the residual RAG recombinase enzyme activity ...

Last Updated: 27 Jul 2017

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Murine models of Omenn syndrome.
 

Author(s): Serre-Yu Wong, David B Roth

Journal: J. Clin. Invest.. 2007 May;117(5):1213-6.

 

In the 40 years since Harvard medical student Gilbert Omenn first described a rare, inherited disorder producing a paradoxical combination of immunodeficiency and immune dysregulation, the pathogenesis of Omenn syndrome (OS) has remained mysterious. In separate studies reported in ...

Last Updated: 3 May 2007

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

Author(s): Masahiko Kato, Hirokazu Kimura, Mitsuru Seki, Akira Shimada, Yasuhide Hayashi, Tomohiro Morio, Satoru Kumaki, Yasushi Ishida, Yoshiro Kamachi, Akihiro Yachie

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

 

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 ...

Last Updated: 31 Oct 2006

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Natural History Study of SCID Disorders
 

Status: Recruiting

Condition Summary: SCID; Leaky SCID; Omenn Syndrome; Reticular Dysgenesis; ADA Deficiency; XSCID

 

Last Updated: 10 Oct 2017

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Patients Treated for SCID (1968-Present)
 

Status: Recruiting

Condition Summary: SCID; ADA-SCID; XSCID; Leaky SCID; Omenn Syndrome; Reticular Dysgenesis

 

Last Updated: 7 Nov 2017

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Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immune Deficiencies
 

Status: Recruiting

Condition Summary: SCID; Omenn's Syndrome; Reticular Dysgenesis; Wiskott-Aldrich Syndrome; Bare Lymphocyte Syndrome; Common Variable Immunodeficiency; Chronic Granulomatous Disease; CD40 Ligand Deficiency; Hyper IgM Syndrome; X-linked Lymphoproliferative Disease; Hemophagocytic Lymphohistiocytosis; Griscelli Syndrome; Chediak-Higashi Syndrome; Langerhan's Cell Histiocytosis

 

Last Updated: 4 Oct 2017

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