- Omenn syndrome
-
Omenn syndrome Classification and external resources ICD-10 D81.2 (ILDS D81.210) OMIM 603554 DiseasesDB 32676 eMedicine ped/1640 Omenn syndrome is an autosomal recessive severe combined immunodeficiency[1] associated with mutations in the recombination activating genes (RAG1 and RAG2), affecting circulating levels of both B-cells and T-cells.
Contents
Symptoms
The symptoms are very similar to graft-versus-host disease (GVHD). This is because the patients have some T cells with limited levels of recombination with the mutant RAG genes. These T cells are abnormal and have a very specific affinity for self antigens found in the thymus and in the periphery. Therefore, these T cells are auto-reactive and cause the GVHD phenotype.
Symptoms include:
- Desquamation (shedding the outer layers of skin)
- Chronic diarrhea
- Erythroderma (widespread reddening of the skin)
- Hepatosplenomegaly (simultaneous enlargement of both the liver and the spleen)
- Leukocytosis (elevation of the white blood cell count)
- Lymphadenopathy (swelling of one or more lymph nodes)
- Persistent bacterial infections
- Elevated serum IgE
Genetics
Omenn syndrome has an autosomal recessive pattern of inheritance.
Treatment
Omenn syndrome is sometimes treated with bone marrow transplantation and cord blood stem cells.
See also
References
- ^ Santagata S, Villa A, Sobacchi C, Cortes P, Vezzoni P (2000). "The genetic and biochemical basis of Omenn syndrome". Immunol Rev. 178: 64–74. doi:10.1034/j.1600-065X.2000.17818.x. PMID 11213808.
Immune disorders: Lymphoid and complement immunodeficiency (D80–D85, 279.0–4) Primary IgA deficiency · IgG deficiency · IgM deficiency · Hyper IgM syndrome (2, 3, 4, 5) · Wiskott-Aldrich syndrome · Hyper-IgE syndromeOtherT cell deficiency (T)thymic hypoplasia: hypoparathyroid (Di George's syndrome) · euparathyroid (Nezelof syndrome, Ataxia telangiectasia)x-linked: X-SCID
autosomal: Adenosine deaminase deficiency · Omenn syndrome · ZAP70 deficiency · Bare lymphocyte syndromeAcquired Leukopenia:
LymphocytopeniaComplement deficiency C1-inhibitor (Angioedema/Hereditary angioedema) · Complement 2 deficiency/Complement 4 deficiency · MBL deficiency · Properdin deficiency · Complement 3 deficiency · Terminal complement pathway deficiency · Paroxysmal nocturnal hemoglobinuria · Complement receptor deficiencyCategories:- Rare diseases
- Syndromes
- Autosomal recessive disorders
- Hepatology
- Noninfectious immunodeficiency-related cutaneous conditions
- Combined T and B–cell immunodeficiencies
Wikimedia Foundation. 2010.
