Cytogenetic and functional studies of leukocytes with pelger-huët anomaly

A cytogenetic study was undertaken in 15 cases of Pelger-Huët (P-H) anomaly in 3 families. An enlarged short arm of chromosome 22 (22p⁺) was found in 14 cases, but in these families 4 cases without P-H anomaly did not show 22p⁺ in the karyotype. In P-H anomaly, delayed skin hypersensitivity reactions, levels of serum IgG, IgM and IgA, lymphocyte subpopulations, and natural killer and antibody-dependent, cell-mediated cytotoxicity activities were within normal range. The level of serum IgE, mitogen responses in peripheral blood lymphocyte and plaque-forming cell counts were also within normal range with the exception of a case with atopic eczema. Enzymatic activities, nitroblue tetrazolium reduction and phagocytic capacities of neutrophils appeared normal. Abnormalities of neutrophils in cases of P-H anomaly, as compared with normal subjects, were also negative in examinations for chemotaxis and spontaneous migration under agarose and in a membrane filter.