Wiskott-aldrich syndrome 1

General: Sex-linked recessive; early infancy with death in the first decade of life; abnormal immune responses; expression of CD43 is defective in this X-chromosome-linked immunodeficiency disorder, suggesting that CD43 might have a role in T-cell activation.

Ocular: Periorbital hemorrhages; vesicular skin eruptions; blepharitis; lid nodules; episcleritis; scleral icterus; conjunctival hemorrhages and purulent discharge; corneal ulcers; retinal hemorrhages; papilledema; peripapillary hemorrhages.

Clinical: Eczema; epistaxis; purpura; hematemesis; bloody diarrhea; otitis media.

Aldrich RA, et al. Pedigree demonstrating sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea. Pediatrics 1954; 13:133.

Guss RB, McCulley JP. Abnormal immune responses in the ocular presentation of Wiskott-Aldrich syndrome. Ann Ophthalmol 1982; 14:1058-l060.

Podos SM, et al. Ophthalmic manifestations of the Wiskott-Aldrich syndrome. Arch Ophthalmol 1969; 82:322.

Rosenstein Y, et al. CD43, a molecule defective in Wiskott-Aldrich syndrome, binds ICAM-l. Nature 1991; 354:233.

Wiskott A. Familiar Angeborener Morbus Werlhofii? Monatschr Kinderheilkd 1937; 68:212.