Lazy Leukocyte Syndrome

Clinical Features

Miller et al. (1971) described 2 unrelated children, a boy and a girl, with episodes of recurrent stomatitis, gingivitis, otitis media, and fevers. A severe neutropenia was found. Bone marrow studies showed normal numbers of mature, morphologically normal neutrophils. A poor neutrophil response was obtained upon stimulation with both epinephrine and endotoxin, as well as upon induced inflammation by the Rebuck skin window technique. Leukocyte phagocytosis and bactericidal activity were normal. Both random mobility and chemotactic function were defective. Miller (1974) knew of 4 other cases. None is familial and no parental consanguinity is known.

Single cases were reported by Costanopoulos et al. (1975), Patrone et al. (1979), and Pinkerton et al. (1978). The syndrome is distinguished from neutrophil chemotactic deficiencies (162820) by the coexistence of defective random motility and peripheral blood neutropenia with normal bone marrow granulocyte reserve. Defective random migration is thought to be related to a structural and/or functional abnormality of actomyosin-like microfilaments on the cytoplasmic face of the cell membrane. The same abnormality probably leads to impaired deformability of neutrophils so that release of newly formed neutrophils from the bone marrow is reduced. Relative to the genetics and the possibility that these cases represent new dominant mutations, parental age data would be of interest.

Yoda et al. (1980) reported cases. Goldman et al. (1984) reported the disorder in adult monozygotic female twins and in 1 son of each of them. Skin window mobilization test and chemotaxis were normal. A characteristic abnormality of actin distribution in neutrophils was demonstrated. The 35-year-old proposita had neutropenia and an illness suggestive of persistent Epstein-Barr virus infection. Mobilization of leukocytes after exercise was defective.