Skip to main content


Severe combined imunodeficiency caused by defect of the common gamma chain of the interleukin 2 receptor

Article metrics

  • 418 Accesses


Severe combined immunodeficiency (SCID) is the most serious form of a group of diseases characterized by an abnormality in the development and / or function of T cells and may be associated with defects in B cells and Natural Killer cells.


Case report of a 2 years old male diagnosed with Severe Combined Immunodeficiency (SCID) at 5 months of age investigated to define the molecular basis of the disease due the untimely death of two siblings.


The mutation detected was a defect of the common gamma chain of the interleukin 2 receptor (IL2Rγ). Even though genetic counseling advised otherwise the patient's mother got pregnant during follow-up and as no compatible donor was found we chose to wait birth and verify compatibility. Genetic evaluation of the newborn revealed the absence of the IL2Rγ gene defect in blood cord and a matching HLA. Cord stem cell transplantation was scheduled afterwards.


The patient's mutation is the most common variant (IL2Rγ gene defect) in the X-linked expressed pattern of the XL T-B+NK-phenotype which corresponds to about 45% of severe combined immunodeficiency according to the literature.


Written informed consent was obtained from the patient for publication of this abstract and any accompanying images. A copy of the written consent is available for review by the Editor of this journal.

Author information

Correspondence to Luanda De Alleluia.

Rights and permissions

This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The Creative Commons Public Domain Dedication waiver ( applies to the data made available in this article, unless otherwise stated.

Reprints and Permissions

About this article

Verify currency and authenticity via CrossMark