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Copyright 1980 - 2007 V. Ventruto / A. Di Luccio Genus database 26900 Wiskott-Aldrich syndrome Eponyms: Inheritance: Aldrich syndrome eczema-thrombocytopenia-diarrheainfection IMD2 immunodeficiency Wiskott-Aldrich type immunodeficiency-2 THC WAS autosomal dominant supposed autosomal recessive supposed genetic heterogeneity X-linked recessive Semeiological Cutaneous-hemato-gastrointestinal disorder. Defective T-lymphocyte activation. Eczema, megakaryocytic thrombocytopenia, recurrent infections, diarrhea, dysgammaglobulinemia. Possibility of abnormalities in Synthesis: carrier: X-inactivation studies; IgA levels. Group Sub group Signs: AUDITORY DISORDERS deafness otitis CARDIOVASCULAR DISORDERS peripheral vessels changes vasculitis, arteritis, capillaritis DERMATOLOGICAL DISORDERS dermatitis eczema, senborrheic dermatitis GASTROINTESTINAL DISORDERS intestinal dysfunctions malabsorption, including diarrhea HEMOPOIETIC-LYMPHORETICULAR SYSTEM DISORDERS coagulation disorders, including platelet changes haemostatic disorders, bleeding tendency hemorrhage, ecchymoses, bleeding diathesis, purpura thrombopenia, thrombopathy, platelet reduction, thrombocytopenia LABORATORY DATA biochemical markers metabolic defect chromosomal assignment chromosome X localization chromosome Xp localization gene, structural-functional anomalies gene analysis-DNA analysis WASP (WAS) (IMD2) (THC) Wiscott-Aldrich syndrome protein, gene chr.Xp11.23-p11.22 infective agents bacterial infections lymphoreticular system, changes lymphocytes reduction, absence monocytes-macrophage disorders myelo-erythropoietic disorders isolated hematopoietic diseases plasma proteins, anomalies immune and immune-complex disease immunodefects, cellular T-cell immunodefects, humoral B-cell immunoglobulin A (IgA) serum, high levels Wiskott-Aldrich syndrome Page 1 of 3 Copyright 1980 - 2007 V. Ventruto / A. Di Luccio Genus database immunoglobulin A (IgA) serum, low levels immunoglobulin E, high levels immunological disorders NEOPLASTIC DISEASES cancer, genetic features tumour susceptibility OTHERS inheritance inheritance, autosomal dominant inheritance, X-linked recessive supergroups cardio-cutaneous-oto-skeletal disorders cardio-gastrointestinal-skeletal disorders oto-skeleto-urological disorders PRENATAL-NEONATAL MODIFIED DATA foetal changes foetal changes, recognized by laboratory data prenatal diagnosis foetal blood analysis prenatal diagnosis, molecular SKELETAL DISORDERS ossification, changes bone, sclerotic, hyperostotic, not including: focal sclerosis UROLOGICAL DISORDERS renal dysfunctions renal failure, including: nephritis, pyelonephritis, glomerulonephritis Super group: cardio-cutaneous-oto-skeletal disorders cardio-gastrointestinal-skeletal disorders oto-skeleto-urological disorders Super aggreg. FOETAL CHANGES foetal changes, recognized by laboratory data Aggregations: HEMATOLOGICAL DISORDERS haemostatic disorders, bleeding tendency isolated hematopoietic diseases INFECTIONS SUSCEPTIBILITY immunodefects, cellular T-cell immunodefects, humoral B-cell METABOLIC DISORDERS immune and immune-complex diseases immunological disorders NEOPLASTIC DISORDERS tumour, susceptibility OTHER phenotypical changes in carrier for X-linked disorders Differential diagnosis: Wiskott-Aldrich syndrome 28473 agammaglobulinemia Swiss type autosomal recessive 830 agammaglobulinemia, Swiss type 28650 cyclic thrombocytopenia 8960 Epstein syndrome 8423 familial thrombocytopenia-acute leukemia propensity 11462 Gutenberger syndrome 8412 ICOS deficiency 7481 immunodeficiency syndrome, Devriendt type 13309 immunodeficiency-6 18310 Nezelof disease 20252 Parkman disease 98 platelet, signal processing defect Page 2 of 3 Copyright 1980 - 2007 V. Ventruto / A. Di Luccio Genus database 24900 TAR syndrome 99 Thompson-Wood-Stamatoyannopoulos syndrome 25325 thrombocytopenia , X-linked 28808 Wegener granulomatosis autoantigen Aggregation(s) [in differential diagnosis]: - haemostatic disorders, bleeding tendency Bibliography Wiskott-Aldrich syndrome OMIM ID: 301000 OMIM ID: 277970 OMIM ID: 600903 Am.J.Hum.Genet.57,A98 only,1995 OMIM ID: 300392 OMIM ID: 300299 J. Hum. Genet. 48,590-593,2003 Wiedemann H.R.-Kunze J.: Clinical Syndromes , Mosby-Wolfe Ed. 1997 pag. 560-561 J.L.Spitz: Genodermatoses. Lippincott William Wilkins Ed. 2006 Annuario Orphanet-Italia delle Malattie Rare 2005, pag. 828 Emery&Rimoin's: Principles and Practice of Medical Genetics. Church. Livingstone. p.18471848,2007 Page 3 of 3
