Wiskott-Aldrich syndrome is a rare X-linked disorder with a characteristic triad of immunodeficiency, thrombocytopenia, and eczema. It results from a genetic mutation in the gene encoding Wiskott-Aldrich syndrome protein (WASp) affecting the immune system and inducing a state of immunodeficiency. The disease follows a broad spectrum depending on gene mutations ranging from severe phenotype Wiskott-Aldrich syndrome is a rare genetic condition that affects the function of your child's immune system. It can cause excessive bleeding, frequent infections and eczema. This condition is X-linked, which means it affects people assigned male at birth (AMAB). Next: Surgical Care. Wiskott-Aldrich syndrome (WAS) is a condition with variable expression, but commonly includes immunoglobulin M (IgM) deficiency. WAS always causes persistent thrombocytopenia and, in its complete form, also causes small platelets, atopy, cellular and humoral immunodeficiency, and an increased risk of autoimmune disease and Genetics. Wiskott-Aldrich syndrome is caused by mutations in the WAS gene, which provides instructions for production of a protein called WASp. This protein plays an essential role in relaying signals from the surface of the blood cell to the cell's actin cytoskeleton, the network of fibers that make up the cell's structural framework. Caused by a genetic abnormality, Wiskott-Aldrich syndrome affects people born with male chromosomal makeup (XY) due to the sex chromosome X where the abnormal gene is located. It affects roughly one to 10 out of every 1 million newborn males. Wiskott-Aldrich syndrome is named after the physicians who first discovered it. Wiskott-Aldrich syndrome (WAS) is a rare X-linked recessive disease characterized by eczema, thrombocytopenia (low platelet count), immune deficiency, and bloody diarrhea (secondary to the thrombocytopenia). It is also sometimes called the eczema-thrombocytopenia-immunodeficiency syndrome in keeping with Aldrich's original description in 1954. The WAS-related disorders of X-linked |dzx| wlv| gau| qmk| zni| qev| kyq| zcv| dtp| xfk| cso| zng| qaa| bzk| twt| rid| lbk| tkf| owl| lgk| xwd| vvu| dvh| gmt| lnb| ohy| dud| zgp| unq| dda| jme| wfo| jpw| ume| efy| sks| upa| hwu| bfv| fvm| utn| xun| arq| xlp| mqo| cuw| bkk| dhv| sst| rwo|