title: Dyshematopoiesis in combined immune deficiency with congenital neutropenia.
abstract: This report describes a patient with combined immune deficiency associated with congenital neutropenia (CID/CN) and reports a partial characterization of his hematopoietic abnormalities. The CID/CN syndrome described is characterized by neutropenia and by deficiencies in B-lymphoid and T-lymphoid cell number and function. Red cell and platelet counts were normal. In vitro assays indicate that the myeloid lineage was developmentally arrested at the level of the committed monocyte/granulocyte progenitor (CFU-GM), while precursors to the CFU-GM progenitor were normal. In vitro studies showed that the defect in myeloid development was not corrected with G-CSF or GM-CSF. However, combinations of cytokines present in conditioned media from the T-cell lines MO or C5MJ, or defined multiple cytokine combinations containing IL-1, IL-3, GM-CSF, kit ligand, IL-6, and IL-9, restored myelopoiesis in-vitro. In contrast, C5MJ-conditioned media did not correct deficiencies in immune function in the patient's lymphocytes and accessory cells. No abnormalities in the production of G-CSF, GM-CSF, M-CSF, or IL-1 from the patient could be identified to account for the defects in myelopoiesis orimmune function.
authors.affiliation: Bone Marrow Transplant Service, Memorial Sloan Kettering Cancer Center, NY, NY 10021.
authors.forename: C
authors.initials: C
authors.lastname: Gasparetto
authors.forename: C
authors.initials: C
authors.lastname: Smith
authors.forename: M
authors.initials: M
authors.lastname: Firpo
authors.forename: D
authors.initials: D
authors.lastname: Dennig
authors.forename: T
authors.initials: T
authors.lastname: Small
authors.forename: A P
authors.initials: AP
authors.lastname: Gillio
authors.forename: R
authors.initials: R
authors.lastname: Lichtenberg
authors.forename: R J
authors.initials: RJ
authors.lastname: O'Reilly
authors.forename: M A
authors.initials: MA
authors.lastname: Moore
mesh_terms: D001402:B-Lymphocytes / Q000276:immunology / Q000473:pathology; D001853:Bone Marrow / Q000473:pathology; D003114:Colony-Forming Units Assay; D016207:Cytokines / Q000235:genetics / Q000378:metabolism; D015870:Gene Expression; D016178:Granulocyte-Macrophage Colony-Stimulating Factor / Q000627:therapeutic use; D006098:Granulocytes / Q000473:pathology; D006410:Hematopoiesis; D006412:Hematopoietic Stem Cells / Q000473:pathology; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000150:complications* / Q000473:pathology; D007231:Infant, Newborn; D007958:Leukocyte Count; D008213:Lymphocyte Activation; D008264:Macrophages / Q000473:pathology; D008297:Male; D009503:Neutropenia / Q000150:complications / Q000151:congenital* / Q000473:pathology; D013601:T-Lymphocytes / Q000276:immunology / Q000473:pathology
chemical_list: D016207:Cytokines; D016178:Granulocyte-Macrophage Colony-Stimulating Factor