Dyshematopoiesis in combined immune deficiency with congenital neutropenia

This report describes a patient with combined immune deficiency associated with congenital neutropenla (CID/CN) and reports a partial characterization of his hematopoletic abnormalities. The CID/CN syndrome described is characterized by neutropenla 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 myeioid 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 myeiold 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, CBMJ‐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. © 1994 Wiley‐Liss, Inc.