Similar recombination-activating gene (RAG) mutations result in similar immunobiological effects but in different clinical phenotypes (Q42233195)

19 October 2017

Similar recombination-activating gene (RAG) mutations result in similar immunobiological effects but in different clinical phenotypes (English)

1 reference

19 October 2017

Beata Wolska-Kuśnierz

5

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31 May 2020

Jacques Van Dongen

15

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31 May 2020

6

Krzysztof Kalwak

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31 May 2020

Anna Pituch-Noworolska

7

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Anna Pituch-Noworolska

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31 May 2020

2

Gertjan J Driessen

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31 May 2020

16

Mirjam van der Burg

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31 May 2020

12

Anton W Langerak

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31 May 2020

1

Hanna IJspeert

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31 May 2020

author name string

Michael J Moorhouse

3

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31 May 2020

Nico G Hartwig

4

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31 May 2020

Irina Kondratenko

8

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31 May 2020

Joris M van Montfrans

9

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31 May 2020

Ester Mejstrikova

10

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31 May 2020

Arjan C Lankester

11

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31 May 2020

Dik C van Gent

13

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31 May 2020

Andrew P Stubbs

14

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31 May 2020

language of work or name

English

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publication date

11 January 2014

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The Journal of Allergy and Clinical Immunology

19 October 2017

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31 May 2020

volume

133

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31 May 2020

issue

4

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31 May 2020

page(s)

1124-1133

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The immunophenotypic and immunogenotypic B-cell differentiation arrest in bone marrow of RAG-deficient SCID patients corresponds to residual recombination activities of mutated RAG proteins.

31 May 2020

cites work

1 reference

12 December 2020

IMGT, the international ImMunoGeneTics database.

1 reference

12 December 2020

Expansion of immunoglobulin-secreting cells and defects in B cell tolerance in Rag-dependent immunodeficiency

1 reference

12 December 2020

V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations

1 reference

12 December 2020

IMGT databases, web resources and tools for immunoglobulin and T cell receptor sequence analysis, http://imgt.cines.fr

1 reference

12 December 2020

Partial V(D)J recombination activity leads to Omenn syndrome

1 reference

12 December 2020

1 reference

12 December 2020

Combined immunodeficiency and reticuloendotheliosis with eosinophilia

1 reference

12 December 2020

Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly

1 reference

12 December 2020

Variable region gene analysis of pathologic human autoantibodies to the related i and I red blood cell antigens

1 reference

12 December 2020

A DNA-PKcs mutation in a radiosensitive T-B- SCID patient inhibits Artemis activation and nonhomologous end-joining.

1 reference

12 December 2020

Radiosensitive SCID patients with Artemis gene mutations show a complete B-cell differentiation arrest at the pre-B-cell receptor checkpoint in bone marrow.

1 reference

12 December 2020

More than just SCID--the phenotypic range of combined immunodeficiencies associated with mutations in the recombinase activating genes (RAG) 1 and 2.

1 reference

12 December 2020

From Severe Combined Immunodeficiency to Omenn syndrome after hematopoietic stem cell transplantation in a RAG1 deficient family

1 reference

12 December 2020

Lack of nonfunctional B-cell receptor rearrangements in a patient with normal B cell numbers despite partial RAG1 deficiency and atypical SCID/Omenn syndrome

1 reference

12 December 2020

RAG mutations in human B cell-negative SCID.

1 reference

12 December 2020

A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection

1 reference

12 December 2020

Human T cell leukemias with continuous V(D)J recombinase activity for TCR-delta gene deletion

1 reference

12 December 2020

Design and standardization of PCR primers and protocols for detection of clonal immunoglobulin and T-cell receptor gene recombinations in suspect lymphoproliferations: report of the BIOMED-2 Concerted Action BMH4-CT98-3936.

1 reference

12 December 2020

Predominant autoantibody production by early human B cell precursors

1 reference

12 December 2020

Galaxy: a platform for interactive large-scale genome analysis

1 reference

12 December 2020

An overview of three new disorders associated with genetic instability: LIG4 syndrome, RS-SCID and ATR-Seckel syndrome

1 reference

12 December 2020

IMGT(®) tools for the nucleotide analysis of immunoglobulin (IG) and T cell receptor (TR) V-(D)-J repertoires, polymorphisms, and IG mutations: IMGT/V-QUEST and IMGT/HighV-QUEST for NGS.

1 reference

12 December 2020

N-terminal truncated human RAG1 proteins can direct T-cell receptor but not immunoglobulin gene rearrangements.

1 reference

12 December 2020

Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency.

1 reference

12 December 2020

Galaxy: a comprehensive approach for supporting accessible, reproducible, and transparent computational research in the life sciences

1 reference

12 December 2020

N-terminal RAG1 frameshift mutations in Omenn's syndrome: internal methionine usage leads to partial V(D)J recombination activity and reveals a fundamental role in vivo for the N-terminal domains.

1 reference

12 December 2020

Fusion gene transcripts and Ig/TCR gene rearrangements are complementary but infrequent targets for PCR-based detection of minimal residual disease in acute myeloid leukemia

1 reference

12 December 2020

AIRE deficiency in thymus of 2 patients with Omenn syndrome

1 reference

12 December 2020

WebLogo: A Sequence Logo Generator

1 reference

12 December 2020

Idiopathic CD4+ T lymphopenia without autoimmunity or granulomatous disease in the slipstream of RAG mutations

1 reference

12 December 2020

Atypical VH-D-JH rearrangements in newborn autoimmune MRL mice

1 reference

12 December 2020

A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation.

1 reference

12 December 2020

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

1 reference

12 December 2020

Sequence logos: a new way to display consensus sequences

1 reference

12 December 2020

Homeostatic expansion of autoreactive immunoglobulin-secreting cells in the Rag2 mouse model of Omenn syndrome

1 reference

12 December 2020

Early defects in human T-cell development severely affect distribution and maturation of thymic stromal cells: possible implications for the pathophysiology of Omenn syndrome

1 reference

12 December 2020

XLF interacts with the XRCC4-DNA ligase IV complex to promote DNA nonhomologous end-joining

1 reference

12 December 2020

Ig gene rearrangement steps are initiated in early human precursor B cell subsets and correlate with specific transcription factor expression

1 reference

12 December 2020

Familial Reticuloendotheliosis with Eosinophilia

1 reference

12 December 2020

GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T-B- SCID in patients with defects in RAG genes.

1 reference

12 December 2020

A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome

1 reference

12 December 2020

Restricted heterogeneity of T lymphocytes in combined immunodeficiency with hypereosinophilia (Omenn's syndrome).

1 reference

12 December 2020

Galaxy: a web-based genome analysis tool for experimentalists

1 reference

12 December 2020

Recombinase-activating gene 1 immunodeficiency: different immunological phenotypes in three siblings

1 reference

12 December 2020

Nucleotide sequence analysis of the V regions of two IgM cold agglutinins. Evidence that the VH4-21 gene segment is responsible for the major cross-reactive idiotype

1 reference

12 December 2020

10.1016/J.JACI.2013.11.028

Identifiers

DOI

1 reference

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31 May 2020

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31 May 2020

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