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-kappa B ligand, is suggested.
Elhasid
R
R
Division of Pediatric Hemato-Oncology, Meyer Children's Hospital, Haifa, Israel.
Hofbauer
L C
LC
Ish-Shalom
S
S
Ben-Arush
M
M
Koc
O
O
Rowe
J M
JM
Etzioni
A
A
D000361:Agammaglobulinemia / Q000235:genetics; D016723:Bone Remodeling; D002352:Carrier Proteins / Q000097:blood; D002478:Cells, Cultured; D002675:Child, Preschool; D003241:Consanguinity; D005183:Failure to Thrive / Q000209:etiology; D005347:Fibroblasts / Q000473:pathology; D000069585:Filgrastim; D005598:Fractures, Spontaneous / Q000209:etiology; D005808:Genes, Recessive; D006023:Glycoproteins / Q000097:blood / Q000172:deficiency*; D016179:Granulocyte Colony-Stimulating Factor / Q000627:therapeutic use; D006801:Humans; D016756:Immunoglobulins, Intravenous / Q000627:therapeutic use; D008297:Male; D008562:Membrane Glycoproteins / Q000097:blood; D009503:Neutropenia / Q000151:congenital / Q000235:genetics*; D010024:Osteoporosis / Q000150:complications / Q000235:genetics*; D053244:Osteoprotegerin; D010198:Pancytopenia / Q000235:genetics / Q000628:therapy; D010375:Pedigree; D036102:Peripheral Blood Stem Cell Transplantation; D053245:RANK Ligand; D053246:Receptor Activator of Nuclear Factor-kappa B; D018160:Receptors, Cytoplasmic and Nuclear / Q000097:blood / Q000172:deficiency*; D018124:Receptors, Tumor Necrosis Factor; D011994:Recombinant Proteins; D012008:Recurrence
D002352:Carrier Proteins; D006023:Glycoproteins; D016756:Immunoglobulins, Intravenous; D008562:Membrane Glycoproteins; D053244:Osteoprotegerin; D053245:RANK Ligand; D053246:Receptor Activator of Nuclear Factor-kappa B; D018160:Receptors, Cytoplasmic and Nuclear; D018124:Receptors, Tumor Necrosis Factor; D011994:Recombinant Proteins; C505686:TNFRSF11A protein, human; C506030:TNFRSF11B protein, human; C505688:TNFSF11 protein, human; D016179:Granulocyte Colony-Stimulating Factor; D000069585:Filgrastim