Atypical X-linked SCID phenotype associated with growth hormone hyporesponsiveness
| العنوان: | Atypical X-linked SCID phenotype associated with growth hormone hyporesponsiveness |
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| المؤلفون: | Mariacarolina Salerno, Claudio Pignata, L. Gaetaniello, E. Matrecano, Alfonso junior Apicella, Matilde Valeria Ursini, Raffaele Ambrosio |
| المساهمون: | Ursini, M. V., Gaetaniello, L., Ambrosio, R., Matrecano, E., Apicella, A. J., Salerno, M. C., Pignata, Claudio |
| المصدر: | Clinical and Experimental Immunology. 129:502-509 |
| بيانات النشر: | Oxford University Press (OUP), 2002. |
| سنة النشر: | 2002 |
| مصطلحات موضوعية: | Antigens, Differentiation, T-Lymphocyte, Male, Genetic Linkage, T-Lymphocytes, medicine.medical_treatment, Growth hormone receptor, Lymphocyte Activation, chemistry.chemical_compound, STAT5 Transcription Factor, Idiopathic short stature, Janus kinase 2, Severe combined immunodeficiency, Signal transducer and activators of transcription 5, Immunology and Allergy, Phosphorylation, Receptor, Cells, Cultured, Immunodeficiency, Human Growth Hormone, Protein-Tyrosine Kinases, Milk Proteins, Pedigree, DNA-Binding Proteins, Phenotype, Signal transduction, Interleukin Receptor Common gamma Subunit, medicine.medical_specialty, X Chromosome, Immunology, Receptors, Antigen, T-Cell, Biology, Proto-Oncogene Proteins, Internal medicine, medicine, Humans, RNA, Messenger, Severe combined immunodeficiency, Receptors, Interleukin-7, Growth factor, T-cell receptor, Infant, Tyrosine phosphorylation, Original Articles, Receptors, Somatotropin, Janus Kinase 2, medicine.disease, Body Height, Endocrinology, chemistry, Trans-Activators, Severe Combined Immunodeficiency, Follow-Up Studies |
| الوصف: | SUMMARY Severe combined immunodeficiency (SCID) is a heterogeneous group of disorders characterized by defect of T- and B-cell immunity. In many cases of autosomal recessive SCID, thus far described, the molecular alteration involves genes encoding for molecules that participate in the signal transduction. We report on a patient affected by a combined immunodeficiency, characterized by severe T-cell functional impairment, in spite of a close to normal number of circulating mature type T and B cells. NK cells were absent. Associated with the immunodeficiency, this patient also showed short stature characterized by very low growth velocity, delayed bone age and absence of increase of the plasma levels of Insulin growth factor-I (IGF-I) after growth hormone (GH) in vivo stimulation indicating peripheral hyporesponsiveness to GH. Evaluation of the protein tyrosine phosphorylation events occurring following either T-cell receptor (TCR) or GH receptor (GHR) triggering revealed striking abnormalities. No molecular alteration of GHR gene was found, thus suggesting the presence of postreceptorial blockage. Mutational screening and expression analysis failed to reveal any molecular alteration of JAK2 and STAT 5 A/B genes thus ruling out the involvement of these genes in the pathogenesis of this form of SCID. Mutational analysis of IL2Rγ chain gene revealed the presence of a L183S missense mutation, thus indicating an atypical and a more complex clinical presentation of this X-linked form of SCID. At our knowledge, this is the first report on the GH hyporesponsiveness in this disease. |
| وصف الملف: | ELETTRONICO |
| تدمد: | 1365-2249 0009-9104 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d6d9e0a49200da65d869591a4ac6e04Test https://doi.org/10.1046/j.1365-2249.2002.01823.xTest |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....8d6d9e0a49200da65d869591a4ac6e04 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 13652249 00099104 |
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