Cerebellar involvement in warts Hypogammaglobulinemia immunodeficiency myelokathexis patients: neuroimaging and clinical findings

Orphanet Journal of Rare Diseases
Jessica GalliRaffaele Badolato

Abstract

Warts Hypogammaglobulinemia Immunodeficiency Myelokathexis (WHIM) syndrome is a primary immunodeficiency characterized by recurrent bacterial infections, severe chronic neutropenia, with lymphopenia, monocytopenia and myelokathexis which is caused by heterozygous gain of functions mutations of the CXC chemokine receptor 4 (CXCR4). WHIM patients display an increased incidence of non-hematopoietic conditions, such as congenital heart disease suggesting that abnormal CXCR4 may put these patients at increased risk of congenital anomalies. Studies conducted on CXCR4 and SDF-1-deficient mice have demonstrated the role of CXCR4 signaling in neuronal cell migration and brain development. In particular, CXCR4 conditional knockout mice display abnormal cerebellar morphology and poor coordination and balance on motor testing. In order to evaluate a possible neurological involvement in WHIM syndrome subjects, we performed neurological examination, including International Cooperative Ataxia Rating Scale, cognitive and psychopathological assessment and brain Magnetic Resonance Imaging (MRI) in 6 WHIM patients (age range 8-51 years) with typical gain of functions mutations of CXCR4 (R334X or G336X). In three cases (P3, P5, P6) neurological ev...Continue Reading

References

Jan 1, 1985·Annals of the New York Academy of Sciences·J BrandtG Lassen
Aug 5, 1998·Proceedings of the National Academy of Sciences of the United States of America·Q MaT A Springer
Apr 15, 2000·American Journal of Medical Genetics·R J GorlinJ R Fenyk
Jun 5, 2003·Anales de pediatría : publicación oficial de la Asociación Española de Pediatría (A.E.P.)·E KuczynskiF B Assumpção
May 18, 2004·Trends in Immunology·Robyn S Klein, Joshua B Rubin
Nov 3, 2005·The European Journal of Neuroscience·Tim O VilzKarl Schilling
Feb 2, 2006·Movement Disorders : Official Journal of the Movement Disorder Society·Tanja Schmitz-HübschThomas Klockgether
Jul 8, 2008·Clinical Neurology and Neurosurgery·Hanne BaillieuxPeter Mariën
Dec 11, 2008·Annals of Neurology·Emma ClementFrancesco Muntoni
Mar 27, 2009·The Journal of Allergy and Clinical Immunology·Laura TassoneRaffaele Badolato
Mar 23, 2011·Developmental Medicine and Child Neurology·Andrea Poretti
May 15, 2012·American Journal of Human Genetics·Dan DohertyTeresa Zelinski
Sep 27, 2012·Orphanet Journal of Rare Diseases·Sarah Beaussant CohenJean Donadieu
Sep 10, 2013·The Cerebellum·Andrea PorettiEugen Boltshauser
May 20, 2014·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Andrea PorettiDan Doherty
Oct 24, 2015·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Andreea NissenkornBruria Ben-Zeev
Jul 18, 2016·Neuroimaging Clinics of North America·Andrea PorettiThierry A G M Huisman
Oct 22, 2016·Developmental Medicine and Child Neurology·Rick BrandsmaDeborah A Sival
Jul 6, 2017·European Radiology·Romina RomanielloRenato Borgatti
Oct 27, 2017·Blood·Raffaele BadolatoUNKNOWN WHIM Research Group
Dec 6, 2017·Brain : a Journal of Neurology·Franziska HocheJeremy D Schmahmann

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Citations

Jul 18, 2019·Journal of Clinical Immunology·Lauren E HeusinkveldPhilip M Murphy
Jan 25, 2021·BMC Molecular and Cell Biology·Liqing WangChangxin Wu
Jan 9, 2021·Proceedings of the National Academy of Sciences of the United States of America·Yufei ShanSusan Wray

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