The Wiskott-Aldrich syndrome

In 1936-1937, Alfred A. Wiskott (1898-1978) envisioned as a "famili~irer, angeborener Morbus Werlhofii?" [familial congenital form of Werlhof's disease], the autonomy of the clinical triad constituted by (1) hemorrhages caused by thrombocytopenia or thrombocytopathia, (2) susceptibility to infections attributable to apparently primary (or congenital) anergy (or resistance deficit), and (3) eczema [3]. Wiskott's report referred to three brothers (who had four healthy sisters) and was the first complete description (ahead of its time) of the Wiskott-Aldrich syndrome. The incidence of the syndrome among male patients had not gone unnoticed, although sex-linked recessive heredity had not been pointed out; Wiskott had in fact surmised that one paternal cousin was also slightly affected by the same condition. Actually, in 1937, some of the groundwork for recognition of the sex-linked recessive heredity of certain diseases (especially hemophilia and color blindness) was already long established, but this was not demonstrated for the triad described by Wiskott until 1954, when Robert A. Aldrich (born in 1917), unaware of Wiskott's observations 18 years earlier, published a "Pedigree demonstrating a sex linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea" [1]. Several studies on the "Aldrich syndrome" began at that time in Europe and in the US. The condition came to be known as "WiskottAldrich syndrome" on the suggestion of Lenz and as a consequence of a A. A. Wiskott R.A. Aldrich