Wiskott–Aldrich syndrome is a condition with variable expressivity, meaning that even within the same family some may exhibit only chronic thrombocytopenia while others experience severe, life-threatening complications of Wiskott–Aldrich syndrome in infancy or childhood. Given symptoms often progress with age, it is challenging to predict how affected a newly diagnosed infant will eventually be. There is some genotype-phenotype correlation, with most individuals with X-linked thrombocytopenia having missense variants in the WAS gene versus 86.5% of those that make no WAS protein having the classic Wiskott–Aldrich syndrome phenotype. Overall the prognosis for individuals with Wiskott–Aldrich syndrome has improved considerably over the past decades due to earlier diagnoses and more access to treatments. Epidemiology
The estimated incidence of Wiskott–Aldrich syndrome in the United States is one in 250,000 live male births. While still a rare disease, this makes it more common than many genetic immunodeficiency syndromes such as hyper-IgM syndrome or SCID, which have an estimated incidence of about one in 1,000,000 live births, and Wiskott–Aldrich syndrome is thought to account for 1.2% of all inherited immunodeficiencies in the United States. WAS occurs worldwide and is not known to be more common in any particular ethnic group. History
The syndrome is named after Dr. Alfred Wiskott (1898–1978), a German pediatrician who first noticed the syndrome in 1937, and Dr. Robert Anderson Aldrich (1917–1998), an American pediatrician who described the disease in a family of Dutch-Americans in 1954. Wiskott described three brothers with a similar disease, whose sisters were unaffected.
Aortopulmonary window (APW) refers to a congenital heart defect similar in some ways to persistent truncus arteriosus. Persistent truncus arteriosus involves a single valve; aortopulmonary window is a septal defect.A large number of patients with a large APW usually die within 1 year of age. It is extremely rare to find cases of APW surviving till adult age and it is still rare to surgically treat such patients who are incidentally detected in adult age because such subsets of patients invariably have associated pulmonary vascular obstructive disease in advanced stage and thus there is therapeutic dilemma to surgically correct these patients.Although cases of uncorrected APW presenting in adulthood have been reported but literature on surgically treated AP window in adult populations is limited. A rare case of successful surgical management of an incidentally detected large APW with reversible pulmonary arterial hypertension has been reported as isolated case reports. See also
Aortic window
Major aortopulmonary collateral artery, developes when native pulmonary circulation is underdeveloped

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