Abstract
IntroductionAbout 20% of the cases of human severe combined immunodeficiency are the result of the child being homozygous for defective genes encoding the enzyme adenosine deaminase. To our knowledge, the mutation pattern in Arab patients with severe combined immunodeficiency has never been reported previously.Case presentationA 14-month-old Arab boy had clinical features typical of severe combined immunodeficiency. His clinical picture and flow cytometric analysis raised the diagnosis of adenosine deaminase deficiency and prompted us to screen the adenosine deaminase gene for mutation(s). We detected a novel mutation in exon 9 of the adenosine deaminase gene (p.Arg282>Gln), which we believe is the cause of the severe combined immunodeficiency phenotype observed in our patient.ConclusionThis is the first report of adenosine deaminase mutation in an Arab patient with severe combined immunodeficiency due to a novel pathogenic mutation in the adenosine deaminase gene.
Highlights
About 20% of the cases of human severe combined immunodeficiency are the result of the child being homozygous for defective genes encoding the enzyme adenosine deaminase
We detected a novel mutation in exon 9 of the adenosine deaminase gene (p.Arg282>Gln), which we believe is the cause of the severe combined immunodeficiency phenotype observed in our patient
This is the first report of adenosine deaminase mutation in an Arab patient with severe combined immunodeficiency due to a novel pathogenic mutation in the adenosine deaminase gene
Summary
Human severe combined immunodeficiency (SCID) was first reported by Swiss workers more than 50 years ago [1]. The first discovered molecular cause of human SCID, adenosine deaminase (ADA) deficiency, was reported in 1972 [2] Infants with this syndrome are lymphopenic and have profound deficiencies of T and B cell numbers and function. Case presentation A 14-month-old Arab boy whose parents were first-degree cousins was referred to our pediatric ward with a history of frequent severe chest infections, chronic diarrhea and failure to thrive This family lost two children at the age of 6 and 8 months due to SCID. In order to assess the mutation causing SCID in this family, genomic DNA was amplified and the entire coding region and the exon–intron boundaries of the ADA gene were sequenced. Based on the above findings, we strongly believe that this sequence change is probably pathogenic
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