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■ Abbreviation / Long Form : OS / Omenn syndrome

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Total Number of Papers: 59
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Abbreviation:   OS  (>> Co-occurring Abbreviation)
Long Form:   Omenn syndrome
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No. Year Title Co-occurring Abbreviation
2019 Atypical Omenn Syndrome Due to RAG2 Gene Mutation, a Case Report. AS, BMT, CR, HSCT, RAG, SCID
2019 Phenotypical heterogeneity in RAG-deficient patients from a highly consanguineous population. SCID
2019 Prominent dermal Langerhans cells in an Omenn syndrome patient with a novel mutation in the IL2RG gene. LC
2019 The R229Q mutation of Rag2 does not characterize severe immunodeficiency in mice. SCID
2018 Efficacy of lentivirus-mediated gene therapy in an Omenn syndrome recombination-activating gene 2 mouse model is not hindered by inflammation and immune dysregulation. BM, GT, LV, RAG
2017 Cytotoxic T-lymphocyte-associated protein 4-Ig effectively controls immune activation and inflammatory disease in a novel murine model of leaky severe combined immunodeficiency. DCLRE1C, LS, RAG1
2016 Clinical, immunologic, and genetic characteristics of RAG mutations in 15 Chinese patients with SCID and Omenn syndrome. SCID
2016 Intestinal microbiota sustains inflammation and autoimmunity induced by hypomorphic RAG defects. IgA, WT
2016 Modeling altered T-cell development with induced pluripotent stem cells from patients with RAG1-dependent immune deficiencies. iPSCs, RAG1, SCID, TCR, TRA, TRB, TRECs
10  2016 Mutation c.256_257delAA in RAG1 Gene in Polish Children with Severe Combined Immunodeficiency: Diversity of Clinical Manifestations. ---
11  2016 RAGs and BUGS: An alliance for autoimmunity. ---
12  2015 Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency. CMV
13  2015 Three faces of recombination activating gene 1 (RAG1) mutations. BCR, PG, RAG1, SCID, TCR
14  2014 Autoimmune manifestations in SCID due to IL7R mutations: Omenn syndrome and cytopenias. ---
15  2014 Co-existence of clonal expanded autologous and transplacental-acquired maternal T cells in recombination activating gene-deficient severe combined immunodeficiency. HLA, RAG, SCID, TCR
16  2014 Human syndromes of immunodeficiency and dysregulation are characterized by distinct defects in T-cell receptor repertoire development. CDR3, IL2RG, TCR, ZAP70
17  2014 Rag defects and thymic stroma: lessons from animal models. SCID, TECs
18  2014 RAG1 reversion mosaicism in a patient with Omenn syndrome. ---
19  2014 Severe combined immunodeficiency in Serbia and Montenegro between years 1986 and 2010: a single-center experience. HSCT, JAK, PID, SCID
20  2012 Anti-CD3epsilon mAb improves thymic architecture and prevents autoimmune manifestations in a mouse model of Omenn syndrome: therapeutic implications. mAb
21  2012 Atypical Omenn Syndrome due to Adenosine Deaminase Deficiency. ---
22  2012 From Severe Combined Immunodeficiency to Omenn syndrome after hematopoietic stem cell transplantation in a RAG1 deficient family. HSCT, SCID
23  2012 Selective clinical and immune response of the oligoclonal autoreactive T cells in Omenn patients after cyclosporin A treatment. CsA
24  2011 Clinical characteristics and molecular analysis of three Chinese children with Omenn syndrome. TCRVbeta
25  2010 Analysis of mutations from SCID and Omenn syndrome patients reveals the central role of the Rag2 PHD domain in regulating V(D)J recombination. PHD, SCID
26  2010 Defect of regulatory T cells in patients with Omenn syndrome. FoxP3
27  2010 Homeostatic expansion of autoreactive immunoglobulin-secreting cells in the Rag2 mouse model of Omenn syndrome. BCR, ISC
28  2009 Matched unrelated bone marrow transplant for Omenn syndrome. BMT, MUD
29  2009 Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia. SCID
30  2009 Recombinase-activating gene 1 immunodeficiency: different immunological phenotypes in three siblings. CMV, RAG1, SCID, TCR
31  2009 Reduced central tolerance in Omenn syndrome leads to immature self-reactive oligoclonal T cells. AIRE
32  2009 Relative CD4 lymphopenia and a skewed memory phenotype are the main immunologic abnormalities in a child with Omenn syndrome due to homozygous RAG1-C2633T hypomorphic mutation. PID
33  2008 A RAG1 mutation found in Omenn syndrome causes coding flank hypersensitivity: a novel mechanism for antigen receptor repertoire restriction. ---
34  2008 Of Omenn and mice. ---
35  2008 Omenn syndrome: inflammation in leaky severe combined immunodeficiency. SCID
36  2008 Omenn's syndrome: lessons from a red baby. BMT
37  2007 A hypomorphic R229Q Rag2 mouse mutant recapitulates human Omenn syndrome. ---
38  2007 GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T-B- SCID in patients with defects in RAG genes. CGPs, GVHD, SCID
39  2007 Homeostatically proliferating CD4 T cells are involved in the pathogenesis of an Omenn syndrome murine model. ---
40  2007 Murine models of Omenn syndrome. ---
41  2006 Necrotizing enterocolitis in an infant with Omenn syndrome. ---
42  2006 Omenn syndrome in an infant with IL7RA gene mutation. ---
43  2006 Omenn syndrome--review of several phenotypes of Omenn syndrome and RAG1/RAG2 mutations in Japan. SCID, TCR
44  2006 RAG-dependent primary immunodeficiencies. ---
45  2005 Adapting to a changing world: RAG genomics and evolution. RAGs
46  2005 Evolution of a T-B- SCID into an Omenn syndrome phenotype following parainfluenza 3 virus infection. RAG, SCID
47  2005 Oligoclonal expansion of T lymphocytes with multiple second-site mutations leads to Omenn syndrome in a patient with RAG1-deficient severe combined immunodeficiency. ---
48  2005 Omenn syndrome due to ARTEMIS mutations. NHEJ, SCID, TCR
49  2005 Omenn's syndrome occurring in patients without mutations in recombination activating genes. RAG
50  2004 Detection of RAG mutations and prenatal diagnosis in families presenting with either T-B- severe combined immunodeficiency or Omenn's syndrome. SCID
51  2003 Impaired thymic output and restricted T-cell repertoire in two infants with immunodeficiency and early-onset generalized dermatitis. DGS, TCR
52  2001 Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B-severe combined immune deficiency or Omenn syndrome. ---
53  2001 Omenn's syndrome: differential diagnosis in infants with erythroderma and immunodeficiency. GVHD, NS
54  2001 V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations. RAG, SCID
55  2000 Prenatal diagnosis of RAG-deficient Omenn syndrome. RAG, SCID
56  2000 The genetic and biochemical basis of Omenn syndrome. SCID
57  1997 In vitro cell death of activated lymphocytes in Omenn's syndrome. AICD, IL, mAb
58  1996 CD30 cell expression and abnormal soluble CD30 serum accumulation in Omenn's syndrome: evidence for a T helper 2-mediated condition. OLS, sCD30, Th2
59  1987 Clinical and immunological findings in four infants with Omenn's syndrome: a form of severe combined immunodeficiency with phenotypically normal T cells, elevated IgE, and eosinophilia. IFN-gamma, IL-2