The Familial Occurrence of the Chediak-higashi Syndrome in Mink and Cattle.

HEDIAK (1952) observed anomalous granulations in peripheral blood and bone marrow leukocytes of a four-year-old girl. Several investigators have since reported similar granules in leukocytes of both male and female patients from different parts of the world. While there have been some differences reported in the various cases, the composite picture of the syndrome as described by several investigators is consistent ( HIGASHI 1954; SATO 1954; SATO 1955 ; DONOHUE and BAIN 1957; EFRATI and JONAS 1958; SARAIVA, ZEVEDO, CORREA, CORVALHO and PROSPERO 1959; PAGE, BERENDES, WARNER and GOOD 1962). People with the condition are partial albinos since the hair and eyes have less pigmentation. They have photophobia, nystagmus and an increased red reflex of the eyes. They are unusually susceptible to pyogenic infections. All cases reported exhibited anomalous leukocytic granulations in the peripheral blood and bone marrow. Few patients have survived longer than seven years of age. The syndrome appears to be inherited by means of an autosomal recessive gene. LEADER, PADGETT and GORHAM (1963) and PADGETT, LEADER and GORHAM (1963) have reported the occurrence of a panleukocytic anomaly of Aleutian type mink morphologically identical to that occurring in the Chediak-Higashi syndrome (CH-S) of man. We have recently found that the CH-S also occurs in partial albino (PA) Hereford cattle. In this paper, data will be presented concerning the familial occurrence of the CH-S in mink and cattle. The presence of hypopigmentation, photophobia, abnormal leukocytes, recessive hereditary patterns and marked susceptibility to infections offers strong evidence that the abnormality is the same in all three species.