Genetics on a WHIM
Author:
Affiliation:
1. Leukemia Section; Department of Medicine; Roswell Park Cancer Institute; Buffalo NY USA
2. University of California, San Diego, Moores Cancer Center; San Diego CA USA
Publisher
Wiley
Subject
Hematology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/bjh.12574/fullpdf
Reference76 articles.
1. Recurrent CXCR4 sequence variation in a girl with WHIM syndrome;Alapi;European Journal of Haematology,2007
2. Myelokathexis, a congenital disorder of severe neutropenia characterized by accelerated apoptosis and defective expression of bcl-x in neutrophil precursors;Aprikyan;Blood,2000
3. Congenital neutropenia: advances in diagnosis and treatment;Badolato;Current Opinion in Allergy and Clinical Immunology,2004
4. Tetralogy of fallot is an uncommon manifestation of warts, hypogammaglobulinemia, infections, and myelokathexis syndrome;Badolato;The Journal of Pediatrics,2012
5. WHIM syndromes with different genetic anomalies are accounted for by impaired CXCR4 desensitization to CXCL12;Balabanian;Blood,2005
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1. WHIM Syndrome: Report of a Novel Familial CXCR4V340fs Gain-of-function Mutation with a Milder Phenotype;2023-11-14
2. Dynamin-2 deficiency causes age- and sex-dependent neutropenia and myelodysplasia in mice;Blood Advances;2023-04-13
3. Genotype–phenotype correlations in WHIM syndrome: a systematic characterization of CXCR4WHIM variants;Genes & Immunity;2022-09-12
4. Case Report: A Novel CXCR4 Mutation in a Chinese Child With Kawasaki Disease Causing WHIM Syndrome;Frontiers in Immunology;2022-04-13
5. Kostmann disease and other forms of severe congenital neutropenia;Acta Paediatrica;2021-06-29
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