About: Omenn syndrome

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Omenn syndrome is an autosomal recessive severe combined immunodeficiency. It is associated with hypomorphic missense mutations in immunologically relevant genes of T-cells (and B-cells) such as recombination activating genes (RAG1 and RAG2), Interleukin-7 receptor-α (IL7Rα), DCLRE1C-Artemis, RMRP-CHH, DNA-Ligase IV, common gamma chain, WHN-FOXN1, ZAP-70 and complete DiGeorge syndrome. It is fatal without treatment.

Attributes	Values
rdf:type	Thing Disease yago:WikicatAutosomalRecessiveDisorders yago:WikicatNoninfectiousImmunodeficiency-relatedCutaneousConditions yago:Abstraction100002137 yago:Attribute100024264 yago:Cognition100023271 yago:Complex105870365 yago:Concept105835747 yago:Condition113920835 yago:Content105809192 yago:Disease114070360 yago:Disorder114052403 yago:GeneticDisease114151139 yago:Idea105833840 yago:IllHealth114052046 yago:Illness114061805 yago:PathologicalState114051917 yago:PhysicalCondition114034177 yago:PsychologicalFeature100023100 yago:WikicatGeneticDisorders disease yago:State100024720 yago:Syndrome105870790 yago:Whole105869584 yago:WikicatSyndromes umbel-rc:AilmentCondition
rdfs:label	متلازمة أومين (ar) Síndrome de Omenn (es) Syndrome d'Omenn (fr) Syndroom van Omenn (nl) Omenn syndrome (en) Zespół Omenna (pl)
rdfs:comment	متلازمة اومين هي جسمية متنحية من نقص المناعة المصاحبة للطفرات الطفولية الضائرة في الجينات ذات الصلة المناعية للخلايا التائية (والخلايا البائية) مثل جينات إعادة التركيب المؤثرة (RAG1 and RAG2), IL-7 Receptor α gene (IL7Rα), DCLRE1C-Artemis, RMRP-CHH, DNA-Ligase IV, common gamma chain, WHN-FOXN1, ZAP-70 and complete DiGeorge anomaly (DiGeorge Syndrome; CHARGE). (ar) El Síndrome de Omenn o reticuloendoteliosis familiar con eosinofilia es una inmunodeficiencia combinada severa autosómico recesiva asociada con mutaciones en los genes activadores de recombinación (RAG1 y RAG2), que afectan a los niveles circulantes de los linfocitos B y T. (es) Omenn syndrome is an autosomal recessive severe combined immunodeficiency. It is associated with hypomorphic missense mutations in immunologically relevant genes of T-cells (and B-cells) such as recombination activating genes (RAG1 and RAG2), Interleukin-7 receptor-α (IL7Rα), DCLRE1C-Artemis, RMRP-CHH, DNA-Ligase IV, common gamma chain, WHN-FOXN1, ZAP-70 and complete DiGeorge syndrome. It is fatal without treatment. (en) Het syndroom van Omenn is een autosomaal recessieve gecombineerde ernstige immunodeficiëntie, een vorm van SCID. Het wordt veroorzaakt door mutaties in (RAG1 en RAG2). Deze genen zorgen voor de variabiliteit in de receptoren van de T en B-cellen, die ervoor zorgt dat zij specifieke receptoren kunnen maken om antilichamen te herkennen. Als deze genen door een mutatie niet werken, ontstaan er niet-functionerende T-cellen en worden er geen B-cellen gemaakt. Het syndroom werd voor het eerst beschreven in 1965 door Gilbert S. Omenn, vierdejaarsstudent aan de Harvard Medical School. (nl) Le syndrome d'Omenn ou déficit immunitaire combiné avec éosinophilie est un déficit immunitaire combiné sévère (DICS) de transmission autosomique récessive. Elle affecte le bon fonctionnement des gènes codant RAG-1 et RAG-2, spécifiquement exprimés dans les lymphocytes, provoquant un arrêt de leur développement. Bien qu'il s'agisse d'un déficit immunitaire combiné sévère, le taux de lymphocytes peut être élevé ou normal. Le syndrome doit son nom à G.S. Omenn, un médecin américain (1965) (fr) Zespół Omenna (synonimy chondrodysplazja z limfopenią, chondrodysplazja z eozynofilią) – choroba uwarunkowana genetycznie, zaliczana do wrodzonych, ciężkich, skojarzonych niedoborów odporności. Choroba wywołana jest mutacjami w obrębie genów RAG1 lub RAG2, kodujących białka Rag-1 lub Rag-2, które są niezbędne do prawidłowego funkcjonowania limfocytów. Cechy fenotypowe zespołu to niski wzrost i krótkie, szerokie kości kończyn. W badaniach dodatkowych stwierdza się eozynofilię i podwyższony poziom IgE, przy obniżeniu pozostałych immunoglobulin. (pl)
foaf:name	Omenn syndrome (en)
name	Omenn syndrome (en)
foaf:depiction
dcterms:subject	Autosomal recessive disorders Hepatology Combined T and B–cell immunodeficiencies Rare syndromes Noninfectious immunodeficiency-related cutaneous conditions
Wikipage page ID	2294715 (xsd:integer)
Wikipage revision ID	1076336149 (xsd:integer)
Link from a Wikipage to another Wikipage	Eosinophilia Hypomorphic mutation DNA repair protein XRCC4 Interleukin-7 receptor-α Erythroderma RMRP Graft-versus-host disease Opportunistic infection Recombination activating gene Autosomal recessive disorders Common gamma chain T-cell receptor Autosomal recessive Hepatology Combined T and B–cell immunodeficiencies DCLRE1C Diarrhea Failure to thrive Rare syndromes Purine nucleoside phosphorylase deficiency Noninfectious immunodeficiency-related cutaneous conditions Chemotherapy Hepatomegaly Missense mutation DiGeorge syndrome B-cell receptor Splenomegaly Immunoglobulin FOXN1 Immunoglobulin E Lymphadenopathy Severe combined immunodeficiency List of cutaneous conditions B-cell ZAP-70 Bone marrow transplantation ILDS Severe combined immunodeficiency syndrome T-cell
sameAs	Omenn syndrome Omenn syndrome Omenn syndrome Omenn syndrome Omenn syndrome Omenn syndrome Omenn syndrome Omenn syndrome Omenn syndrome Omenn syndrome

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