Diagnosing Omenn syndrome

2021 ◽  
Author(s):  
Louise Cutts ◽  
Arti Bakshi ◽  
Maeve Walsh ◽  
Richard Parslew ◽  
Karen Eustace
Keyword(s):  
Omenn Syndrome

Omenn Syndrome Caused By a Novel Homozygous Mutation in Recombination Activating Gene 1

Immunobiology ◽  
2021 ◽  
pp. 152090
Author(s):  
Ibtihal Benhsaien ◽  
Soukaina Essadssi ◽  
Lamiae Elkhattabi ◽  
Amina Bakhchane ◽  
Houria Abdelghaffar ◽  
...  
Keyword(s):  
Omenn Syndrome ◽  
Homozygous Mutation ◽  
Recombination Activating Gene

A heterozygous mutation in the RAG2 gene with cutaneous and systemic manifestations partially resembling Omenn syndrome

2021 ◽  
Author(s):  
Andrea Estébanez ◽  
Jaime Verdú‐Amorós ◽  
Esmeralda Silva ◽  
Rebeca Velasco ◽  
Ana Cuesta ◽  
...  
Keyword(s):  
Heterozygous Mutation ◽  
Omenn Syndrome ◽  
Rag2 Gene ◽  
Systemic Manifestations

Novel adopted immunotherapy for mixed chimerism after unrelated cord blood transplantation in Omenn syndrome

2005 ◽  
Vol 75 (5) ◽  
pp. 441-444 ◽  
Author(s):  
Daisuke Tomizawa ◽  
Yuki Aoki ◽  
Masayuki Nagasawa ◽  
Tomohiro Morio ◽  
Michiko Kajiwara ◽  
...  
Keyword(s):  
Cord Blood ◽  
Cord Blood Transplantation ◽  
Mixed Chimerism ◽  
Omenn Syndrome ◽  
Unrelated Cord Blood Transplantation ◽  
Blood Transplantation ◽  
Unrelated Cord Blood

Novel Presentation of Omenn Syndrome in Association with Aniridia

2008 ◽  
Vol 121 (2) ◽  
pp. S89-S89
Author(s):  
O DELMONTE ◽  
W SHEEHAN ◽  
D MILLER ◽  
A ROBERTS ◽  
F BONILLA ◽  
...  
Keyword(s):  
Omenn Syndrome

scholarly journals Anti-CD3ε mAb improves thymic architecture and prevents autoimmune manifestations in a mouse model of Omenn syndrome: therapeutic implications

Blood ◽  
2012 ◽  
Vol 120 (5) ◽  
pp. 1005-1014 ◽  
Author(s):  
Veronica Marrella ◽  
Pietro L. Poliani ◽  
Elena Fontana ◽  
Anna Casati ◽  
Virginia Maina ◽  
...  
Keyword(s):  
T Cell ◽  
Mouse Model ◽  
T Cell Activation ◽  
Cell Activation ◽  
Severe Combined Immunodeficiency ◽  
Cell Receptor ◽  
Omenn Syndrome ◽  
Activated T Cells ◽  
Therapeutic Implications ◽  
Autoimmune Regulator

Abstract Omenn syndrome (OS) is an atypical primary immunodeficiency characterized by severe autoimmunity because of activated T cells infiltrating target organs. The impaired recombinase activity in OS severely affects expression of the pre-T-cell receptor complex in immature thymocytes, which is crucial for an efficient development of the thymic epithelial component. Anti-CD3ε monoclonal antibody (mAb) treatment in RAG2−/− mice was previously shown to mimic pre-TCR signaling promoting thymic expansion. Here we show the effect of anti-CD3ε mAb administration in the RAG2R229Q mouse model, which closely recapitulates human OS. These animals, in spite of the inability to induce the autoimmune regulator, displayed a significant amelioration in thymic epithelial compartment and an important reduction of peripheral T-cell activation and tissue infiltration. Furthermore, by injecting a high number of RAG2R229Q progenitors into RAG2−/− animals previously conditioned with anti-CD3ε mAb, we detected autoimmune regulator expression together with the absence of peripheral immunopathology. These observations indicate that improving epithelial thymic function might ameliorate the detrimental behavior of the cell-autonomous RAG defect. Our data provide important therapeutic proof of concept for future clinical applications of anti-CD3ε mAb treatment in severe combined immunodeficiency forms characterized by poor thymus function and autoimmunity.

scholarly journals LB954 Value of topical hypochlorite and skin acidification in improving severe erythroderma of Omenn syndrome

2017 ◽  
Vol 137 (10) ◽  
pp. B5
Author(s):  
M. Wat ◽  
A. Olicker ◽  
H. Meyerson ◽  
K Ruda Wessell ◽  
S. Nedorost ◽  
...  
Keyword(s):  
Omenn Syndrome

scholarly journals Recombinase Activating Gene 1 Deficiencies Without Omenn Syndrome May Also Present With Eosinophilia and Bone Marrow Fibrosis

2016 ◽  
Vol 8 (5) ◽  
pp. 379-384 ◽  
Author(s):  
Ezgi Ulusoy ◽  
Neslihan Edeer Karaca ◽  
Elif Azarsiz ◽  
Afig Berdeli ◽  
Guzide Aksu ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Omenn Syndrome ◽  
Bone Marrow Fibrosis ◽  
Marrow Fibrosis

Clinical and genetic heterogeneity in Omenn syndrome and severe combined immune deficiency

2009 ◽  
Vol 13 (2) ◽  
pp. 244-250 ◽  
Author(s):  
Tanja A. Gruber ◽  
Ami J. Shah ◽  
Michelle Hernandez ◽  
Gay M. Crooks ◽  
Hisham Abdel-Azim ◽  
...  
Keyword(s):  
Immune Deficiency ◽  
Genetic Heterogeneity ◽  
Omenn Syndrome ◽  
Severe Combined Immune Deficiency ◽  
Combined Immune Deficiency
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