Impaired CXCR4 desensitization in WHIM leukocytes 1 WHIM syndromes with different genetic anomalies are accounted for by impaired CXCR4 desensitization to CXCL12 Short title: Impaired CXCR4 desensitization in WHIM leukocytes

نویسندگان

  • Karl Balabanian
  • Bernard Lagane
  • José Luis Pablos
  • Lysiane Laurent
  • Thierry Planchenault
  • Olivier Verola
  • Celeste Lebbe
  • Delphine Kerob
  • Alain Dupuy
  • Olivier Hermine
  • Jean-François Nicolas
  • Véronique Latger-Cannard
  • Danièle Bensoussan
  • Pierre Bordigoni
  • Françoise Baleux
  • Françoise Le Deist
  • Jean-Louis Virelizier
  • Fernando Arenzana-Seisdedos
  • Françoise Bachelerie
چکیده

1,10 Unité d’Immunologie Virale et Unité de Chimie Organique, Institut Pasteur, 75724 Paris, France. 2 Servicio de Reumatología, Unidad de Investigación, Hospital 12 de Octubre, 28041 Madrid, Spain. 3-4 Service d’anatomie pathologique et de Dermatologie, Hôpital Saint-louis, 75010 Paris, France. Centre National de la Recherche Scientifique Unite Mixte de Recherche 8147, Hôpital Necker, 75743 Paris, France. INSERM U503, Universite Claude Bernard et Hospices Civils de Lyon, 69007 Lyon, France. Service d’Hématologie Biologique, de Thérapie Cellulaire et Tissulaire et Unité de Transplantation médullaire, Centre Hospitalo-Universitaire de Nancy, 54511 Vandoeuvre-Les-Nancy, France. Laboratoire d’Immunologie Pédiatrique, Hôpital Necker-Enfants Malades, 75743 Paris, France.

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WHIM syndromes with different genetic anomalies are accounted for by impaired CXCR4 desensitization to CXCL12.

The WHIM syndrome is a rare immunodeficiency disorder characterized by warts, hypogammaglobulinemia, infections, and myelokathexis. Dominant heterozygous mutations of the gene encoding CXCR4, a G-protein-coupled receptor with a unique ligand, CXCL12, have been associated with this pathology. We studied patients belonging to 3 different pedigrees. Two siblings inherited a CXCR4 mutation encoding...

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WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome is an immune deficiency linked in many cases to heterozygous mutations causing truncations in the cytoplasmic tail of CXC chemokine receptor 4 (CXCR4). Leukocytes expressing truncated CXCR4 display enhanced responses to the receptor ligand CXCL12, including chemotaxis, which likely impair their trafficking and contribut...

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WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome is an immune deficiency linked in many cases to heterozygous mutations causing truncations in the cytoplasmic tail of CXC chemokine receptor 4 (CXCR4). Leukocytes expressing truncated CXCR4 display enhanced responses to the receptor ligand CXCL12, including chemotaxis, which likely impair their trafficking and contribut...

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تاریخ انتشار 2004