Abstract
Congenital neutropenia (CN), a usually fatal autosomal recessive disease characterized by a maturation arrest of neutrophil differentiation at the promyelocyte stage, is shown to be significantly associated with HLA-B12. A gene-dose effect for the association with B12 has been observed. The genetic determinant responsible for CN is in apparent linkage disequilibrium with the antigen B12. This disease association suggests that the gene (or genes) controlling neutrophilic granulocyte differentiation is closely linked to the HLA complex. This relationship may reflect a basic function of the histocompatibility system, namely the coding for cell-surface determinants fundamental to cell-cell recognition and to control of cellular differentiation.
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Hansen, J.A., Dupont, B., L'Esperance, P. et al. Congenital neutropenia: Abnormal neutrophil differentiation associated withHLA . Immunogenetics 4, 327–332 (1977). https://doi.org/10.1007/BF01575671
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DOI: https://doi.org/10.1007/BF01575671