A NEW IL-2RG GENE MUTATION IN AN X-LINKED SCID IDENTIFIED THROUGH TREC/KREC SCREENING: A CASE REPORT

Q: How can I download an article?

To download an article from SID, first log in to the site, search for the article title, and click on the 'Download Article' option.

Q: How can I download an ISI article?

To download an ISI article on SID, enter the keyword or article title in the search bar, view the relevant results, click on the desired article, and select the 'Download Article' option.

Q: How can I access the SID database?

To access the SID database, visit SID.ir, create an account, and log in to access scientific resources.

Q: Is downloading articles from SID free?

Some articles on SID are available for free, while others require payment. Details are specified on the article's page.

NOURIZADEH MARYAM; BORTE STEPHAN; FAZLOLLAHI MOHAMMAD REZA; HAMMARSTROM LENNART; POURPAK ZAHRA

مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources

Journal Paper

Paper Information

Journal: Iranian Journal of Allergy, Asthma and Immunology Year:2015 | Volume:14 | Issue:4 Page(s): 457-461

Download Full-Text

View:

306

Download:

147

Cites:

Information Journal Paper

Title

A NEW IL-2RG GENE MUTATION IN AN X-LINKED SCID IDENTIFIED THROUGH TREC/KREC SCREENING: A CASE REPORT

Author(s)

Keywords

INTERLEUKIN-2 RECEPTOR GAMMA CHAIN

SEVERE COMBINED IMMUNE DEFICIENCY

T-CELL RECEPTOR EXCISION CIRCLES

KAPPA-DELETING RECOMBINATION EXCISION CIRCLES

Abstract

Severe combined immunodeficiency (SCID) represents a rare group of primary immunodeficiency disorders (PIDs), with known or unknown genetic alterations. Here, we report a new interleukin 2 receptor, gamma chain (IL-2RG) mutation in an Iranian SCID newborn. The patient was a 6-day old boy with a family history of PID. The child was screened using a molecular-based analysis for the assessment of T cell receptor excision circles (TRECs) and KAPPA-DELETING RECOMBINATION EXCISION CIRCLES (KRECs). Moreover, a complete immunological evaluation and gene sequencing was performed. Results showed undetectable TREC but a high level of KREC copy numbers. Flow cytometric data indicated low numbers of T and NK cells, but elevated number of B cells. A novel substitution in IL2RG: c.675 C>A, leading to p.225 Ser>Arg was found. Based on the functional analysis, the mutation is predicted to be damaging. The patient was diagnosed as a T B+ NK X-linked SCID.

Cites

No record.

References

No record.

Cite

APA: Copy

NOURIZADEH, MARYAM, BORTE, STEPHAN, FAZLOLLAHI, MOHAMMAD REZA, HAMMARSTROM, LENNART, & POURPAK, ZAHRA. (2015). A NEW IL-2RG GENE MUTATION IN AN X-LINKED SCID IDENTIFIED THROUGH TREC/KREC SCREENING: A CASE REPORT. IRANIAN JOURNAL OF ALLERGY, ASTHMA AND IMMUNOLOGY (IJAAI), 14(4), 457-461. SID. https://sid.ir/paper/291468/en

Vancouver: Copy

NOURIZADEH MARYAM, BORTE STEPHAN, FAZLOLLAHI MOHAMMAD REZA, HAMMARSTROM LENNART, POURPAK ZAHRA. A NEW IL-2RG GENE MUTATION IN AN X-LINKED SCID IDENTIFIED THROUGH TREC/KREC SCREENING: A CASE REPORT. IRANIAN JOURNAL OF ALLERGY, ASTHMA AND IMMUNOLOGY (IJAAI)[Internet]. 2015;14(4):457-461. Available from: https://sid.ir/paper/291468/en

IEEE: Copy

MARYAM NOURIZADEH, STEPHAN BORTE, MOHAMMAD REZA FAZLOLLAHI, LENNART HAMMARSTROM, and ZAHRA POURPAK, “A NEW IL-2RG GENE MUTATION IN AN X-LINKED SCID IDENTIFIED THROUGH TREC/KREC SCREENING: A CASE REPORT,” IRANIAN JOURNAL OF ALLERGY, ASTHMA AND IMMUNOLOGY (IJAAI), vol. 14, no. 4, pp. 457–461, 2015, [Online]. Available: https://sid.ir/paper/291468/en

Related Journal Papers

No record.

Related Seminar Papers

No record.

Related Plans

No record.

Recommended Workshops