Survey
* Your assessment is very important for improving the workof artificial intelligence, which forms the content of this project
Download 28025.pdf
Document related concepts
no text concepts found
Transcript
Copyright 1980 - 2007 V. Ventruto / A. Di Luccio Genus database 28025 immunodeficiency , T-negative/B-positive type Eponyms: Inheritance: Elder immunodeficiency disease SCID, T-negative/B-positive type autosomal recessive Semeiological Metabolic disorder, isolated defect. Severe combined immunodeficiency due to a defect in the tyrosine kinase ZAP-70. Synthesis: Group Sub group Signs: GASTROINTESTINAL DISORDERS intestinal dysfunctions malabsorption, including diarrhea HEMOPOIETIC-LYMPHORETICULAR SYSTEM DISORDERS lymphonodus disorders lymphonodus hypoplasia absence LABORATORY DATA biochemical markers metabolic defect chromosomal assignment chromosome 5p localization gene, structural-functional anomalies gene analysis-DNA analysis IL7R interleukin-7 receptor, gene chr.5p13 JAK3 (JAKL) Janus kinase leukocyte 3, Janus protein-tyrosine kinase 3, Janus kinase 3, gene chr.19p13.1 ZAP70 protein tyrosine kinase ZAP-70 (zetaassociated protein 70kD), gene chr.2q12 infective agents mycosis, candidiasis lymphoreticular system, changes lymphocytes dysfunction plasma proteins, anomalies immunodefects, cellular T-cell immunodefects, humoral B-cell immunological disorders SCID (severe combined immunodeficiency) tissue, biochemical changes protein tyrosine kinase ZAP-70 OTHERS inheritance inheritance, autosomal recessive PRENATAL-NEONATAL MODIFIED DATA foetal changes foetal changes, recognized by laboratory data prenatal diagnosis prenatal diagnosis, molecular RESPIRATORY DISORDERS respiratory distress respiratory infections, recurrent, including pneumonitis SKELETAL DISORDERS stature, growth, modified habitus growth delayed, failure to thrive, growth retardation Super group: immunodeficiency , T-negative/B-positive type Page 1 of 2 Copyright 1980 - 2007 V. Ventruto / A. Di Luccio Genus database Super aggreg. FOETAL CHANGES foetal changes, recognized by laboratory data Aggregations: INFECTIONS SUSCEPTIBILITY immunodefects, cellular T-cell immunodefects, humoral B-cell SCID (severe combined immunodeficiency) METABOLIC DISORDERS immunological disorders Differential diagnosis: Bibliography 640 adenosine deaminase deficiency 28473 agammaglobulinemia Swiss type autosomal recessive 830 agammaglobulinemia, Swiss type 2885 Bare lymphocyte syndrome type II 7236 hyper-IgM syndrome 2-3 28024 immunodeficiency due to selective T-cell defect 13309 immunodeficiency-6 13385 interleukin-2 deficiency 28472 Monafo syndrome 18950 Omenn disease 1031 SCID-alopecia syndrome Pediat.Res.39,743-748,1996 OMIM ID: 600802 OMIM ID: 600173 Prenat.Diagn.19,653-656,1999 Annuario Orphanet-Italia delle Malattie Rare 2005, pag. 431, 839 Emery&Rimoin's: Principles and Practice of Medical Genetics. Church. Livingstone. p.18351856,2007 immunodeficiency , T-negative/B-positive type Page 2 of 2
