To our knowledge, this is a new AICDA mutation, which has not been reported previously in HIGM. Sequencing analysis of the exons from activation-induced cytidine deaminase ( AICDA) gene revealed that the patient was homozygous for a single T to C transversion at position 455 in exon 4, which replaces a Valine with an Alanine. Furthermore, the patient developed benign cervical lymphadenopathy, as well as elevated erythrocyte sedimentation rate, positive autoantibodies to SSA-Ro, and severely dry eyes, which partially responded to both the punctate occlusion and systemic corticosteroids, at the age of seven years. The patient underwent Ig replacement therapy and received growth hormone therapy in addition to antibiotics and responded well. In view of the patient's short stature, growth hormone evaluation was carried out and growth hormone deficiency established. Methods and resultsĪ nine-year-old girl with recurrent urinary tract infections, diarrhoea, sinopulmonary infections, and failure to thrive since the age of six months had normal CD3+, CD4+, CD8 + T lymphocytes, and CD19 + B lymphocytes and natural killer (NK) cells, but extremely elevated IgM and significantly decreased IgG and IgA. The Hyper-immunoglobulin M syndromes (HIGM) are a heterogeneous group of genetic disorders, which have been rarely reported to be associated with growth hormone deficiency (GHD). Letters to the Editor on previously published papers are welcomed.Allergologia et Immunopathologia publishes 6 issues per year and is included in the major databases such as Pubmed, Scopus, Web of Knowledge, etc. Occasionally, the opinion of an expert on a burning topic is published in the "Point of View" The journal accepts original and review articles from all over the world, together with consensus statements from the aforementioned societies. It has and independent international Editorial Committee which submits received papers for peer-reviewing by international experts. Allergologia et Immunopathologia is the official journal of the Spanish Society of Pediatric Allergy and Clinical Immunology. Manuscripts related to clinical, epidemiological and experimental allergology and childhood immunopathology will be considered for publication. Allergologia et Immunopathologia is no longer published on Elsevier since the 2021 year.Transferred to Codon PublicationsĪllergologia et Immunopathologia is a forum for those working in the field of asthma, allergy and immunology related to childhood.
0 kommentar(er)
