A single nucleotide insertion in the canine interleukin-2 receptor gamma chain results in X-linked severe combined immunodeficiency disease

1995 ◽  
Vol 47 (3-4) ◽  
pp. 203-213 ◽  
Author(s):  
Richard L. Somberg ◽  
Robin P. Pullen ◽  
Margret L. Casal ◽  
Donald F. Patterson ◽  
Peter J. Felsburg ◽  
...  
Keyword(s):  
Severe Combined Immunodeficiency ◽  
Interleukin 2 ◽  
Combined Immunodeficiency ◽  
Gamma Chain ◽  
Single Nucleotide ◽  
Interleukin 2 Receptor ◽  
Nucleotide Insertion ◽  
Immunodeficiency Disease ◽  
Severe Combined Immunodeficiency Disease

scholarly journals Absence of interleukin 2 production in a severe combined immunodeficiency disease syndrome with T cells.

1990 ◽  
Vol 171 (5) ◽  
pp. 1697-1704 ◽  
Author(s):  
J P DiSanto ◽  
C A Keever ◽  
T N Small ◽  
G L Nicols ◽  
R J O'Reilly ◽  
...  
Keyword(s):  
T Cells ◽  
T Cell ◽  
Severe Combined Immunodeficiency ◽  
T Cell Development ◽  
Interleukin 2 ◽  
Combined Immunodeficiency ◽  
Alternative Pathways ◽  
Immunodeficiency Disease ◽  
Severe Combined Immunodeficiency Disease ◽  
Subtle Abnormality

We have characterized a child with a severe combined immunodeficiency disease syndrome with increased numbers, but a normal distribution, of CD3+ T cells. This patient's immunological defect appears to be attributable to a selective deficiency in T cell production of IL-2, which may reflect a subtle abnormality in the IL-2 gene locus or a defect in a regulatory factor necessary for IL-2 transcription. The increased numbers of phenotypically normal T cells in this patient suggest that alternative pathways of T cell development exist in man or that IL-2 production intra- and extrathymically is controlled via distinct regulatory mechanisms.

Interleukin-2 receptor common gamma chain (IL2RG) defects present a diagnostic challenge

2018 ◽  
Vol 5 (4) ◽  
pp. 130-134
Author(s):  
Caroline Weisser ◽  
Dennis E. Bulman ◽  
Kayla Flamenbaum ◽  
Maian Roifman
Keyword(s):  
Genetic Analysis ◽  
Severe Combined Immunodeficiency ◽  
Genetic Defect ◽  
Interleukin 2 ◽  
Combined Immunodeficiency ◽  
Gamma Chain ◽  
Gene Encoding ◽  
Common Gamma Chain ◽  
Interleukin 2 Receptor ◽  
The Common

Background: The protein encoded by interleukin-2 receptor common gamma chain (IL2RG) is an important signaling component of many interleukin receptors, including those of interleukin-2, -4, -7, and -21, known as the common gamma chain. Mutations in the gene encoding the common gamma chain of the interleukin-2 receptor cause X-linked severe combined immunodeficiency (SCID). In this report, we present an unknown genetic defect of a patient diagnosed with SCID whose genetic analysis was performed 2 decades later. Methods: Whole genome sequencing and Sanger confirmation were used to identify a novel frameshift mutation in IL2RG. Massively parallel sequencing of genes associated with SCID were performed on the patient’s mother and sister. Results: Next generation sequencing techniques identified a heterozygous frame-shift deletion in the gene encoding the common gamma chain of IL2RG in our patient. The patient’s mother had a low level mosaicism for the same deletion. The sister had no detectable deletion. Conclusion: We have identified a novel mutation in IL2RG resulting in an X-linked SCID phenotype. The genetic analysis of the patient’s mother revealed a mosaicism which was not passed on to his sister. The importance of genetic analysis in family members and SCID patients with an unknown genetic defect should be emphasized for family planning and subsequent genetic counseling. Statement of novelty: Genetic testing is an extremely important component in evaluating severe combined immunodeficiency as it impacts treatment course and prognosis, and allows for genetic analysis and counselling of family members.

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