Familial severe congenital neutropenia associated with infantile osteoporosis: A new entity

A new entity manifested by severe congenital neutropenia associated with osteoporosis and recurrent bone fracture is described in a family. A possible role for a new recognized cytokine system involved in bone remodeling, the osteoprotegerin/receptor activator of nuclear factor‐κB ligand, is suggest...

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Bibliographic Details
Published in:American journal of hematology 2003-01, Vol.72 (1), p.34-37
Main Authors: Elhasid, R., Hofbauer, L.C., Ish‐Shalom, S., Ben‐Arush, M., Koc, O., Rowe, J.M., Etzioni, A.
Format: Article
Language:English
Subjects:
Agammaglobulinemia - genetics
Biological and medical sciences
Bone Remodeling
Carrier Proteins - blood
Cells, Cultured
Child, Preschool
Consanguinity
Failure to Thrive - etiology
Fibroblasts - pathology
Filgrastim
Fractures, Spontaneous - etiology
Genes, Recessive
Glycoproteins - blood
Glycoproteins - deficiency
Granulocyte Colony-Stimulating Factor - therapeutic use
Hematologic and hematopoietic diseases
Humans
Immunodeficiencies
Immunodeficiencies. Immunoglobulinopathies
immunodeficiency
Immunoglobulins, Intravenous - therapeutic use
Immunopathology
Male
Medical sciences
Membrane Glycoproteins - blood
neutropenia
Neutropenia - congenital
Neutropenia - genetics
osteoporosis
Osteoporosis - complications
Osteoporosis - genetics
Osteoprotegerin
Other diseases. Hematologic involvement in other diseases
Pancytopenia - genetics
Pancytopenia - therapy
Pedigree
Peripheral Blood Stem Cell Transplantation
RANK Ligand
Receptor Activator of Nuclear Factor-kappa B
Receptors, Cytoplasmic and Nuclear - blood
Receptors, Cytoplasmic and Nuclear - deficiency
Receptors, Tumor Necrosis Factor
Recombinant Proteins
Recurrence
Tropical medicine
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Description
Summary:A new entity manifested by severe congenital neutropenia associated with osteoporosis and recurrent bone fracture is described in a family. A possible role for a new recognized cytokine system involved in bone remodeling, the osteoprotegerin/receptor activator of nuclear factor‐κB ligand, is suggested. Am. J. Hematol. 72:34–37, 2003. © 2002 Wiley‐Liss, Inc.
ISSN:0361-8609
1096-8652
DOI:10.1002/ajh.10261