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Detection of T lymphocytes with a second-site mutation in skin lesions of atypical X-linked severe combined immunodeficiency mimicking Omenn syndrome
- Source :
- Blood. 112:1872-1875
- Publication Year :
- 2008
- Publisher :
- American Society of Hematology, 2008.
-
Abstract
- X-linked severe combined immunodeficiency (XSCID) is caused by mutations of the common gamma chain (γc) and usually characterized by the absence of T and natural killer (NK) cells. Here, we report an atypical case of XSCID presenting with autologous T and NK cells and Omenn syndrome-like manifestations. The patient carried a splice-site mutation (IVS1+5G>A) that caused most of the mRNA to be incorrectly spliced but produced normally spliced transcript in lesser amount, leading to residual γc expression and development of T and NK cells. The skin biopsy specimen showed massive infiltration of revertant T cells. Those T cells were found to have a second-site mutation and result in complete restoration of correct splicing. These findings suggest that the clinical spectrum of XSCID is quite broad and includes atypical cases mimicking Omenn syndrome, and highlight the importance of revertant mosaicism as a possible cause for variable phenotypic expression.
- Subjects :
- Male
T-Lymphocytes
DNA Mutational Analysis
Immunology
Biology
X-Linked Combined Immunodeficiency Diseases
Biochemistry
Diagnosis, Differential
medicine
Humans
Amino Acid Sequence
X-linked severe combined immunodeficiency
Skin
Common gamma chain
Severe combined immunodeficiency
Messenger RNA
Base Sequence
medicine.diagnostic_test
Immunologic Deficiency Syndromes
Infant
Cell Biology
Hematology
medicine.disease
Omenn syndrome
Killer Cells, Natural
Phenotype
Mutation
RNA splicing
Skin biopsy
RNA Splice Sites
Infiltration (medical)
Interleukin Receptor Common gamma Subunit
Subjects
Details
- ISSN :
- 15280020 and 00064971
- Volume :
- 112
- Database :
- OpenAIRE
- Journal :
- Blood
- Accession number :
- edsair.doi.dedup.....a9d28458f9ad66080aaa131350058935