(Q30884827)

12 October 2017

Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia (English)

1 reference

severe combined immunodeficiency

12 October 2017

1 reference

1 reference

1 reference

Osama Alsmadi

1

1 reference

12 October 2017

Abdulaziz Al-Ghonaium

2

1 reference

12 October 2017

Saleh Al-Muhsen

3

1 reference

12 October 2017

Rand Arnaout

4

1 reference

12 October 2017

Hasan Al-Dhekri

5

1 reference

12 October 2017

Bandar Al-Saud

6

1 reference

12 October 2017

Fadi Al-Kayal

7

1 reference

12 October 2017

Haya Al-Saud

8

1 reference

12 October 2017

Hamoud Al-Mousa

9

1 reference

12 October 2017

13 November 2009

1 reference

12 October 2017

1 reference

12 October 2017

10

1 reference

12 October 2017

116

1 reference

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

12 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780402

Omenn syndrome: inflammation in leaky severe combined immunodeficiency

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780402

Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780402

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780402

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780402

Severe combined immunodeficiency caused by deficiency in either the delta or the epsilon subunit of CD3

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780402

Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780402

Mutational analysis of all conserved basic amino acids in RAG-1 reveals catalytic, step arrest, and joining-deficient mutants in the V(D)J recombinase

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780402

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780402

A deletion in the gene encoding the CD45 antigen in a patient with SCID.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780402

Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780402

Quantitation of the oligosaccharides of human serum IgG from patients with rheumatoid arthritis: a critical evaluation of different methods

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780402

Highly restricted human T cell repertoire in peripheral blood and tissue-infiltrating lymphocytes in Omenn's syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780402

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780402

Naturally occurring primary deficiencies of the immune system

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780402

RAG1 mediates signal sequence recognition and recruitment of RAG2 in V(D)J recombination

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780402

RAG mutations in human B cell-negative SCID.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780402

Mechanism of V(D)J recombination

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780402

Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780402

The mechanism of V(D)J joining: lessons from molecular, immunological, and comparative analyses

21 June 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780402

21 June 2018

https://api.crossref.org/works/10.1186%2F1471-2350-10-116

Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID)

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780402

A simple salting out procedure for extracting DNA from human nucleated cells

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780402

RAG-1-deficient mice have no mature B and T lymphocytes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780402

RAG-2-deficient mice lack mature lymphocytes owing to inability to initiate V(D)J rearrangement

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780402

Omenn syndrome due to ARTEMIS mutations

21 June 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-10-116

Omenn syndrome is associated with mutations in DNA ligase IV.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-10-116

Adenosine deaminase deficiency can present with features of Omenn syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-10-116

Severe combined immunodeficiency: a cohort of 40 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-10-116

Identification of anti-herpes simplex virus antibody-producing B cells in a patient with an atypical RAG1 immunodeficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-10-116

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-10-116

Consanguinity and major genetic disorders in Saudi children: a community-based cross-sectional study.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780402

Mutations in the RNA component of RNase mitochondrial RNA processing might cause Omenn syndrome

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780402

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

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780402

The homeodomain region of Rag-1 reveals the parallel mechanisms of bacterial and V(D)J recombination

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780402

A retrospective single-center study of clinical presentation and outcome in 117 patients with severe combined immunodeficiency

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780402

Omenn syndrome in an infant with IL7RA gene mutation

25 November 2018

1 reference

12 December 2020

Detection of T lymphocytes with a second-site mutation in skin lesions of atypical X-linked severe combined immunodeficiency mimicking Omenn syndrome

1 reference

12 December 2020

Adenosine-deaminase deficiency in two patients with severely impaired cellular immunity

1 reference

12 December 2020

T-cell reactivity to beta-cell membrane antigens associated with beta-cell destruction in IDDM

1 reference

12 December 2020

Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants

1 reference

12 December 2020

Primary immunodeficiency diseases. Report of an IUIS Scientific Committee. International Union of Immunological Societies

1 reference

12 December 2020

Balance between proliferation and apoptosis in leukemic cell lines resistant to cytostatics

1 reference

12 December 2020

Mutations in the tyrosine phosphatase CD45 gene in a child with severe combined immunodeficiency disease

1 reference

12 December 2020

Identification of novel mutations in Arabs with cystic fibrosis and their impact on the cystic fibrosis transmembrane regulator mutation detection rate in Arab populations

1 reference

12 December 2020

T-cell receptor analysis in Omenn's syndrome: evidence for defects in gene rearrangement and assembly

1 reference

12 December 2020

Identifiers

DOI

10.1186/1471-2350-10-116

1 reference

Dimensions Publication ID

12 October 2017

0 references

1 reference

12 October 2017

PubMed publication ID

19912631

1 reference