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


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2019-12

AUTHORS

Jessica Galli, Lorenzo Pinelli, Serena Micheletti, Giovanni Palumbo, Lucia Dora Notarangelo, Vassilios Lougaris, Laura Dotta, Elisa Fazzi, Raffaele Badolato

ABSTRACT

BACKGROUND: 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. RESULTS: 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 evaluation revealed fine and global motor coordination disorders, balance disturbances, mild limb ataxia and excessive talkativeness. Brain MRI showed an abnormal orientation of the cerebellar folia involving bilaterally the gracilis and biventer lobules together with the tonsils in four subjects (P3, P4, P5, P6). The neuropsychiatric evaluation showed increased risk of internalizing and/or externalizing problems in four patients (P2, P3, P4, P6). CONCLUSIONS: Taken together, these observations suggest CXCR4 gain of function mutations can be associated with cerebellar malformation, mild neuromotor and psychopathological dysfunction in WHIM patients. More... »

PAGES

61

Identifiers

URI

http://scigraph.springernature.com/pub.10.1186/s13023-019-1030-8

DOI

http://dx.doi.org/10.1186/s13023-019-1030-8

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1112464311

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/30819232


Indexing Status Check whether this publication has been indexed by Scopus and Web Of Science using the SN Indexing Status Tool
Incoming Citations Browse incoming citations for this publication using opencitations.net

JSON-LD is the canonical representation for SciGraph data.

TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT

[
  {
    "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
    "about": [
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/1109", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Neurosciences", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/11", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Medical and Health Sciences", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "University of Brescia", 
          "id": "https://www.grid.ac/institutes/grid.7637.5", 
          "name": [
            "Child Neurology and Psychiatry Unit, ASST Spedali Civili Hospital, Brescia, Italy", 
            "Clinical and Experimental Sciences Department, University of Brescia, c/o ASST Spedali Civili, 25123, Brescia, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Galli", 
        "givenName": "Jessica", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Spedali Civili di Brescia", 
          "id": "https://www.grid.ac/institutes/grid.412725.7", 
          "name": [
            "Neuroradiology Unit, Section of Pediatric Neuroradiology, ASST Spedali Civili, Brescia, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Pinelli", 
        "givenName": "Lorenzo", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Spedali Civili di Brescia", 
          "id": "https://www.grid.ac/institutes/grid.412725.7", 
          "name": [
            "Child Neurology and Psychiatry Unit, ASST Spedali Civili Hospital, Brescia, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Micheletti", 
        "givenName": "Serena", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Brescia", 
          "id": "https://www.grid.ac/institutes/grid.7637.5", 
          "name": [
            "Cattedra di Radiologia, University of Brescia, Brescia, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Palumbo", 
        "givenName": "Giovanni", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Spedali Civili di Brescia", 
          "id": "https://www.grid.ac/institutes/grid.412725.7", 
          "name": [
            "Oncoematologia pediatrica e Trapianto di Midollo, Asst Spedali Civili, Brescia, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Notarangelo", 
        "givenName": "Lucia Dora", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Brescia", 
          "id": "https://www.grid.ac/institutes/grid.7637.5", 
          "name": [
            "Clinical and Experimental Sciences Department, University of Brescia, c/o ASST Spedali Civili, 25123, Brescia, Italy", 
            "Pediatric Unit and \u201cA. Nocivelli\u201d Institute for Molecular Medicine, University of Brescia, ASST Spedali Civili Hospital, Brescia, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Lougaris", 
        "givenName": "Vassilios", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Brescia", 
          "id": "https://www.grid.ac/institutes/grid.7637.5", 
          "name": [
            "Clinical and Experimental Sciences Department, University of Brescia, c/o ASST Spedali Civili, 25123, Brescia, Italy", 
            "Pediatric Unit and \u201cA. Nocivelli\u201d Institute for Molecular Medicine, University of Brescia, ASST Spedali Civili Hospital, Brescia, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Dotta", 
        "givenName": "Laura", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Brescia", 
          "id": "https://www.grid.ac/institutes/grid.7637.5", 
          "name": [
            "Child Neurology and Psychiatry Unit, ASST Spedali Civili Hospital, Brescia, Italy", 
            "Clinical and Experimental Sciences Department, University of Brescia, c/o ASST Spedali Civili, 25123, Brescia, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Fazzi", 
        "givenName": "Elisa", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Brescia", 
          "id": "https://www.grid.ac/institutes/grid.7637.5", 
          "name": [
            "Clinical and Experimental Sciences Department, University of Brescia, c/o ASST Spedali Civili, 25123, Brescia, Italy", 
            "Pediatric Unit and \u201cA. Nocivelli\u201d Institute for Molecular Medicine, University of Brescia, ASST Spedali Civili Hospital, Brescia, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Badolato", 
        "givenName": "Raffaele", 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "https://doi.org/10.1016/j.clineuro.2008.05.013", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1001743775"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1242/dev.032276", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1002709067"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1182/blood-2013-09-527226", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1004375731"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/(sici)1096-8628(20000424)91:5<368::aid-ajmg10>3.0.co;2-9", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1004430939"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1460-9568.2005.04378.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1010945465"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1460-9568.2005.04378.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1010945465"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1006/nimg.1999.0459", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1011836517"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1182/blood-2003-10-3532", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1015022422"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/dmcn.13291", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1015140245"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.c.31398", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1015264254"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00234-002-0783-1", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1017203934", 
          "https://doi.org/10.1007/s00234-002-0783-1"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1371/journal.pone.0086471", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1021917637"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/1750-1172-7-71", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1023159352", 
          "https://doi.org/10.1186/1750-1172-7-71"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1176/appi.psy.47.4.333", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1023277155"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1182/blood-2011-06-360586", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1023515080"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ana.21482", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1027689548"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1365-2141.2010.08547.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1027700087"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/brain/awq259", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1027764091"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.jaci.2008.12.1133", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1032167396"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s1695-4033(03)78120-x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1032314437"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng1149", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1035225531", 
          "https://doi.org/10.1038/ng1149"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng1149", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1035225531", 
          "https://doi.org/10.1038/ng1149"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ridd.2016.12.003", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1037124286"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.it.2004.04.002", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1038497379"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/mds.20781", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1039904839"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/mds.20781", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1039904839"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1469-8749.2011.03925.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1044631731"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0022-510x(96)00231-6", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1044787153"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1073/pnas.95.16.9448", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1045854586"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1073/pnas.95.16.9448", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1045854586"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.nic.2016.03.005", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1048323452"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/31269", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1048977106", 
          "https://doi.org/10.1038/31269"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/31269", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1048977106", 
          "https://doi.org/10.1038/31269"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ejpn.2015.09.002", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1049026567"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.jpeds.2012.05.058", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1049253501"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ajhg.2012.04.008", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052064423"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s12311-013-0521-8", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052650449", 
          "https://doi.org/10.1007/s12311-013-0521-8"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.2174/156652411795677963", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1069186164"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1078216499", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/jmedgenet-2016-104421", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1084225597"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00330-017-4945-2", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1090346092", 
          "https://doi.org/10.1007/s00330-017-4945-2"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00330-017-4945-2", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1090346092", 
          "https://doi.org/10.1007/s00330-017-4945-2"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1182/blood-2017-02-708552", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1092358517"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/brain/awx317", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1092833224"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/brain/awx317", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1092833224"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/brain/awx317", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1092833224"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2019-12", 
    "datePublishedReg": "2019-12-01", 
    "description": "BACKGROUND: 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.\nRESULTS: 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\u2009years) with typical gain of functions mutations of CXCR4 (R334X or G336X). In three cases (P3, P5, P6) neurological evaluation revealed fine and global motor coordination disorders, balance disturbances, mild limb ataxia and excessive talkativeness. Brain MRI showed an abnormal orientation of the cerebellar folia involving bilaterally the gracilis and biventer lobules together with the tonsils in four subjects (P3, P4, P5, P6). The neuropsychiatric evaluation showed increased risk of internalizing and/or externalizing problems in four patients (P2, P3, P4, P6).\nCONCLUSIONS: Taken together, these observations suggest CXCR4 gain of function mutations can be associated with cerebellar malformation, mild neuromotor and psychopathological dysfunction in WHIM patients.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1186/s13023-019-1030-8", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": true, 
    "isPartOf": [
      {
        "id": "sg:journal.1036535", 
        "issn": [
          "1750-1172"
        ], 
        "name": "Orphanet Journal of Rare Diseases", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "1", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "14"
      }
    ], 
    "name": "Cerebellar involvement in warts Hypogammaglobulinemia immunodeficiency myelokathexis patients: neuroimaging and clinical findings", 
    "pagination": "61", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "d24b752be0cc4aa723c44548468d504755e10e45f9d8bb112d054bd16b241b89"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "30819232"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "101266602"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1186/s13023-019-1030-8"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1112464311"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1186/s13023-019-1030-8", 
      "https://app.dimensions.ai/details/publication/pub.1112464311"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-11T11:27", 
    "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
    "sdPublisher": {
      "name": "Springer Nature - SN SciGraph project", 
      "type": "Organization"
    }, 
    "sdSource": "s3://com-uberresearch-data-dimensions-target-20181106-alternative/cleanup/v134/2549eaecd7973599484d7c17b260dba0a4ecb94b/merge/v9/a6c9fde33151104705d4d7ff012ea9563521a3ce/jats-lookup/v90/0000000356_0000000356/records_57898_00000001.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://link.springer.com/10.1186%2Fs13023-019-1030-8"
  }
]
 

Download the RDF metadata as:  json-ld nt turtle xml License info

HOW TO GET THIS DATA PROGRAMMATICALLY:

JSON-LD is a popular format for linked data which is fully compatible with JSON.

curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1186/s13023-019-1030-8'

N-Triples is a line-based linked data format ideal for batch operations.

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1186/s13023-019-1030-8'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1186/s13023-019-1030-8'

RDF/XML is a standard XML format for linked data.

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1186/s13023-019-1030-8'


 

This table displays all metadata directly associated to this object as RDF triples.

242 TRIPLES      21 PREDICATES      67 URIs      21 LITERALS      9 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1186/s13023-019-1030-8 schema:about anzsrc-for:11
2 anzsrc-for:1109
3 schema:author Nd2d0f4d57a174e15a919e06c3c19fc53
4 schema:citation sg:pub.10.1007/s00234-002-0783-1
5 sg:pub.10.1007/s00330-017-4945-2
6 sg:pub.10.1007/s12311-013-0521-8
7 sg:pub.10.1038/31269
8 sg:pub.10.1038/ng1149
9 sg:pub.10.1186/1750-1172-7-71
10 https://app.dimensions.ai/details/publication/pub.1078216499
11 https://doi.org/10.1002/(sici)1096-8628(20000424)91:5<368::aid-ajmg10>3.0.co;2-9
12 https://doi.org/10.1002/ajmg.c.31398
13 https://doi.org/10.1002/ana.21482
14 https://doi.org/10.1002/mds.20781
15 https://doi.org/10.1006/nimg.1999.0459
16 https://doi.org/10.1016/j.ajhg.2012.04.008
17 https://doi.org/10.1016/j.clineuro.2008.05.013
18 https://doi.org/10.1016/j.ejpn.2015.09.002
19 https://doi.org/10.1016/j.it.2004.04.002
20 https://doi.org/10.1016/j.jaci.2008.12.1133
21 https://doi.org/10.1016/j.jpeds.2012.05.058
22 https://doi.org/10.1016/j.nic.2016.03.005
23 https://doi.org/10.1016/j.ridd.2016.12.003
24 https://doi.org/10.1016/s0022-510x(96)00231-6
25 https://doi.org/10.1016/s1695-4033(03)78120-x
26 https://doi.org/10.1073/pnas.95.16.9448
27 https://doi.org/10.1093/brain/awq259
28 https://doi.org/10.1093/brain/awx317
29 https://doi.org/10.1111/dmcn.13291
30 https://doi.org/10.1111/j.1365-2141.2010.08547.x
31 https://doi.org/10.1111/j.1460-9568.2005.04378.x
32 https://doi.org/10.1111/j.1469-8749.2011.03925.x
33 https://doi.org/10.1136/jmedgenet-2016-104421
34 https://doi.org/10.1176/appi.psy.47.4.333
35 https://doi.org/10.1182/blood-2003-10-3532
36 https://doi.org/10.1182/blood-2011-06-360586
37 https://doi.org/10.1182/blood-2013-09-527226
38 https://doi.org/10.1182/blood-2017-02-708552
39 https://doi.org/10.1242/dev.032276
40 https://doi.org/10.1371/journal.pone.0086471
41 https://doi.org/10.2174/156652411795677963
42 schema:datePublished 2019-12
43 schema:datePublishedReg 2019-12-01
44 schema:description BACKGROUND: 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. RESULTS: 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 evaluation revealed fine and global motor coordination disorders, balance disturbances, mild limb ataxia and excessive talkativeness. Brain MRI showed an abnormal orientation of the cerebellar folia involving bilaterally the gracilis and biventer lobules together with the tonsils in four subjects (P3, P4, P5, P6). The neuropsychiatric evaluation showed increased risk of internalizing and/or externalizing problems in four patients (P2, P3, P4, P6). CONCLUSIONS: Taken together, these observations suggest CXCR4 gain of function mutations can be associated with cerebellar malformation, mild neuromotor and psychopathological dysfunction in WHIM patients.
45 schema:genre research_article
46 schema:inLanguage en
47 schema:isAccessibleForFree true
48 schema:isPartOf N5d8684883be94f2fb9d5bee8831e4367
49 Na4d322d40ca745e4b34f050036ffa22f
50 sg:journal.1036535
51 schema:name Cerebellar involvement in warts Hypogammaglobulinemia immunodeficiency myelokathexis patients: neuroimaging and clinical findings
52 schema:pagination 61
53 schema:productId N09928c1d62df4227917d832f08a74a2e
54 N9da8b3bfde6a4ff6b3fbbcccc20b7ba1
55 Nc7ee3bc65c4e46289c120d992554cf26
56 Nef56ae48859a44caa7f2d2fcf81a87de
57 Nf9096fd5e8cd447ea56c0dc3b6b6e025
58 schema:sameAs https://app.dimensions.ai/details/publication/pub.1112464311
59 https://doi.org/10.1186/s13023-019-1030-8
60 schema:sdDatePublished 2019-04-11T11:27
61 schema:sdLicense https://scigraph.springernature.com/explorer/license/
62 schema:sdPublisher Nbe62eebc8783492990a600d4bb5e3618
63 schema:url https://link.springer.com/10.1186%2Fs13023-019-1030-8
64 sgo:license sg:explorer/license/
65 sgo:sdDataset articles
66 rdf:type schema:ScholarlyArticle
67 N04dcffbe16c44e079931470c385f9fab rdf:first N0c4fb7996d044ebf8d7813d240761285
68 rdf:rest rdf:nil
69 N08424ae1bcca4fc8b68cd8cfb2f72e6a schema:affiliation https://www.grid.ac/institutes/grid.7637.5
70 schema:familyName Galli
71 schema:givenName Jessica
72 rdf:type schema:Person
73 N09928c1d62df4227917d832f08a74a2e schema:name pubmed_id
74 schema:value 30819232
75 rdf:type schema:PropertyValue
76 N0c4fb7996d044ebf8d7813d240761285 schema:affiliation https://www.grid.ac/institutes/grid.7637.5
77 schema:familyName Badolato
78 schema:givenName Raffaele
79 rdf:type schema:Person
80 N160fbfc3655647fd88a0dbe11f1d3228 rdf:first N29db8844e46d43c1af61f06e74d8169f
81 rdf:rest N5d1c9c042d7a4a67897ef918a24e547d
82 N1f73fcf5ba694e2b97e347df4c2549da rdf:first N5e59646097804811a87c65d46a8efe4e
83 rdf:rest N3b45770a9df544a0acd3eda07ae7df4a
84 N29db8844e46d43c1af61f06e74d8169f schema:affiliation https://www.grid.ac/institutes/grid.7637.5
85 schema:familyName Palumbo
86 schema:givenName Giovanni
87 rdf:type schema:Person
88 N2f8f64fec8504128a8754a480c591b5e schema:affiliation https://www.grid.ac/institutes/grid.7637.5
89 schema:familyName Fazzi
90 schema:givenName Elisa
91 rdf:type schema:Person
92 N3b45770a9df544a0acd3eda07ae7df4a rdf:first N2f8f64fec8504128a8754a480c591b5e
93 rdf:rest N04dcffbe16c44e079931470c385f9fab
94 N5417f1b71f1945758dfff0a0c49c447c schema:affiliation https://www.grid.ac/institutes/grid.412725.7
95 schema:familyName Micheletti
96 schema:givenName Serena
97 rdf:type schema:Person
98 N5d1c9c042d7a4a67897ef918a24e547d rdf:first N7305c769d9f043eabcbf054474f9906f
99 rdf:rest N9e314560f97f4bb19503a4e590b71824
100 N5d8684883be94f2fb9d5bee8831e4367 schema:volumeNumber 14
101 rdf:type schema:PublicationVolume
102 N5e59646097804811a87c65d46a8efe4e schema:affiliation https://www.grid.ac/institutes/grid.7637.5
103 schema:familyName Dotta
104 schema:givenName Laura
105 rdf:type schema:Person
106 N7305c769d9f043eabcbf054474f9906f schema:affiliation https://www.grid.ac/institutes/grid.412725.7
107 schema:familyName Notarangelo
108 schema:givenName Lucia Dora
109 rdf:type schema:Person
110 N74dfba8bf65642359721c9bc26774d45 schema:affiliation https://www.grid.ac/institutes/grid.412725.7
111 schema:familyName Pinelli
112 schema:givenName Lorenzo
113 rdf:type schema:Person
114 N9a662afbbc354571aa21675b9d49117a schema:affiliation https://www.grid.ac/institutes/grid.7637.5
115 schema:familyName Lougaris
116 schema:givenName Vassilios
117 rdf:type schema:Person
118 N9da8b3bfde6a4ff6b3fbbcccc20b7ba1 schema:name nlm_unique_id
119 schema:value 101266602
120 rdf:type schema:PropertyValue
121 N9e314560f97f4bb19503a4e590b71824 rdf:first N9a662afbbc354571aa21675b9d49117a
122 rdf:rest N1f73fcf5ba694e2b97e347df4c2549da
123 Na4d322d40ca745e4b34f050036ffa22f schema:issueNumber 1
124 rdf:type schema:PublicationIssue
125 Nadd8c0850c5845a9974f0b729ec1b2da rdf:first N5417f1b71f1945758dfff0a0c49c447c
126 rdf:rest N160fbfc3655647fd88a0dbe11f1d3228
127 Nbe62eebc8783492990a600d4bb5e3618 schema:name Springer Nature - SN SciGraph project
128 rdf:type schema:Organization
129 Nc7ee3bc65c4e46289c120d992554cf26 schema:name doi
130 schema:value 10.1186/s13023-019-1030-8
131 rdf:type schema:PropertyValue
132 Nc9a0d721ef094af38edab05b76050bf8 rdf:first N74dfba8bf65642359721c9bc26774d45
133 rdf:rest Nadd8c0850c5845a9974f0b729ec1b2da
134 Nd2d0f4d57a174e15a919e06c3c19fc53 rdf:first N08424ae1bcca4fc8b68cd8cfb2f72e6a
135 rdf:rest Nc9a0d721ef094af38edab05b76050bf8
136 Nef56ae48859a44caa7f2d2fcf81a87de schema:name readcube_id
137 schema:value d24b752be0cc4aa723c44548468d504755e10e45f9d8bb112d054bd16b241b89
138 rdf:type schema:PropertyValue
139 Nf9096fd5e8cd447ea56c0dc3b6b6e025 schema:name dimensions_id
140 schema:value pub.1112464311
141 rdf:type schema:PropertyValue
142 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
143 schema:name Medical and Health Sciences
144 rdf:type schema:DefinedTerm
145 anzsrc-for:1109 schema:inDefinedTermSet anzsrc-for:
146 schema:name Neurosciences
147 rdf:type schema:DefinedTerm
148 sg:journal.1036535 schema:issn 1750-1172
149 schema:name Orphanet Journal of Rare Diseases
150 rdf:type schema:Periodical
151 sg:pub.10.1007/s00234-002-0783-1 schema:sameAs https://app.dimensions.ai/details/publication/pub.1017203934
152 https://doi.org/10.1007/s00234-002-0783-1
153 rdf:type schema:CreativeWork
154 sg:pub.10.1007/s00330-017-4945-2 schema:sameAs https://app.dimensions.ai/details/publication/pub.1090346092
155 https://doi.org/10.1007/s00330-017-4945-2
156 rdf:type schema:CreativeWork
157 sg:pub.10.1007/s12311-013-0521-8 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052650449
158 https://doi.org/10.1007/s12311-013-0521-8
159 rdf:type schema:CreativeWork
160 sg:pub.10.1038/31269 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048977106
161 https://doi.org/10.1038/31269
162 rdf:type schema:CreativeWork
163 sg:pub.10.1038/ng1149 schema:sameAs https://app.dimensions.ai/details/publication/pub.1035225531
164 https://doi.org/10.1038/ng1149
165 rdf:type schema:CreativeWork
166 sg:pub.10.1186/1750-1172-7-71 schema:sameAs https://app.dimensions.ai/details/publication/pub.1023159352
167 https://doi.org/10.1186/1750-1172-7-71
168 rdf:type schema:CreativeWork
169 https://app.dimensions.ai/details/publication/pub.1078216499 schema:CreativeWork
170 https://doi.org/10.1002/(sici)1096-8628(20000424)91:5<368::aid-ajmg10>3.0.co;2-9 schema:sameAs https://app.dimensions.ai/details/publication/pub.1004430939
171 rdf:type schema:CreativeWork
172 https://doi.org/10.1002/ajmg.c.31398 schema:sameAs https://app.dimensions.ai/details/publication/pub.1015264254
173 rdf:type schema:CreativeWork
174 https://doi.org/10.1002/ana.21482 schema:sameAs https://app.dimensions.ai/details/publication/pub.1027689548
175 rdf:type schema:CreativeWork
176 https://doi.org/10.1002/mds.20781 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039904839
177 rdf:type schema:CreativeWork
178 https://doi.org/10.1006/nimg.1999.0459 schema:sameAs https://app.dimensions.ai/details/publication/pub.1011836517
179 rdf:type schema:CreativeWork
180 https://doi.org/10.1016/j.ajhg.2012.04.008 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052064423
181 rdf:type schema:CreativeWork
182 https://doi.org/10.1016/j.clineuro.2008.05.013 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001743775
183 rdf:type schema:CreativeWork
184 https://doi.org/10.1016/j.ejpn.2015.09.002 schema:sameAs https://app.dimensions.ai/details/publication/pub.1049026567
185 rdf:type schema:CreativeWork
186 https://doi.org/10.1016/j.it.2004.04.002 schema:sameAs https://app.dimensions.ai/details/publication/pub.1038497379
187 rdf:type schema:CreativeWork
188 https://doi.org/10.1016/j.jaci.2008.12.1133 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032167396
189 rdf:type schema:CreativeWork
190 https://doi.org/10.1016/j.jpeds.2012.05.058 schema:sameAs https://app.dimensions.ai/details/publication/pub.1049253501
191 rdf:type schema:CreativeWork
192 https://doi.org/10.1016/j.nic.2016.03.005 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048323452
193 rdf:type schema:CreativeWork
194 https://doi.org/10.1016/j.ridd.2016.12.003 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037124286
195 rdf:type schema:CreativeWork
196 https://doi.org/10.1016/s0022-510x(96)00231-6 schema:sameAs https://app.dimensions.ai/details/publication/pub.1044787153
197 rdf:type schema:CreativeWork
198 https://doi.org/10.1016/s1695-4033(03)78120-x schema:sameAs https://app.dimensions.ai/details/publication/pub.1032314437
199 rdf:type schema:CreativeWork
200 https://doi.org/10.1073/pnas.95.16.9448 schema:sameAs https://app.dimensions.ai/details/publication/pub.1045854586
201 rdf:type schema:CreativeWork
202 https://doi.org/10.1093/brain/awq259 schema:sameAs https://app.dimensions.ai/details/publication/pub.1027764091
203 rdf:type schema:CreativeWork
204 https://doi.org/10.1093/brain/awx317 schema:sameAs https://app.dimensions.ai/details/publication/pub.1092833224
205 rdf:type schema:CreativeWork
206 https://doi.org/10.1111/dmcn.13291 schema:sameAs https://app.dimensions.ai/details/publication/pub.1015140245
207 rdf:type schema:CreativeWork
208 https://doi.org/10.1111/j.1365-2141.2010.08547.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1027700087
209 rdf:type schema:CreativeWork
210 https://doi.org/10.1111/j.1460-9568.2005.04378.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1010945465
211 rdf:type schema:CreativeWork
212 https://doi.org/10.1111/j.1469-8749.2011.03925.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1044631731
213 rdf:type schema:CreativeWork
214 https://doi.org/10.1136/jmedgenet-2016-104421 schema:sameAs https://app.dimensions.ai/details/publication/pub.1084225597
215 rdf:type schema:CreativeWork
216 https://doi.org/10.1176/appi.psy.47.4.333 schema:sameAs https://app.dimensions.ai/details/publication/pub.1023277155
217 rdf:type schema:CreativeWork
218 https://doi.org/10.1182/blood-2003-10-3532 schema:sameAs https://app.dimensions.ai/details/publication/pub.1015022422
219 rdf:type schema:CreativeWork
220 https://doi.org/10.1182/blood-2011-06-360586 schema:sameAs https://app.dimensions.ai/details/publication/pub.1023515080
221 rdf:type schema:CreativeWork
222 https://doi.org/10.1182/blood-2013-09-527226 schema:sameAs https://app.dimensions.ai/details/publication/pub.1004375731
223 rdf:type schema:CreativeWork
224 https://doi.org/10.1182/blood-2017-02-708552 schema:sameAs https://app.dimensions.ai/details/publication/pub.1092358517
225 rdf:type schema:CreativeWork
226 https://doi.org/10.1242/dev.032276 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002709067
227 rdf:type schema:CreativeWork
228 https://doi.org/10.1371/journal.pone.0086471 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021917637
229 rdf:type schema:CreativeWork
230 https://doi.org/10.2174/156652411795677963 schema:sameAs https://app.dimensions.ai/details/publication/pub.1069186164
231 rdf:type schema:CreativeWork
232 https://www.grid.ac/institutes/grid.412725.7 schema:alternateName Spedali Civili di Brescia
233 schema:name Child Neurology and Psychiatry Unit, ASST Spedali Civili Hospital, Brescia, Italy
234 Neuroradiology Unit, Section of Pediatric Neuroradiology, ASST Spedali Civili, Brescia, Italy
235 Oncoematologia pediatrica e Trapianto di Midollo, Asst Spedali Civili, Brescia, Italy
236 rdf:type schema:Organization
237 https://www.grid.ac/institutes/grid.7637.5 schema:alternateName University of Brescia
238 schema:name Cattedra di Radiologia, University of Brescia, Brescia, Italy
239 Child Neurology and Psychiatry Unit, ASST Spedali Civili Hospital, Brescia, Italy
240 Clinical and Experimental Sciences Department, University of Brescia, c/o ASST Spedali Civili, 25123, Brescia, Italy
241 Pediatric Unit and “A. Nocivelli” Institute for Molecular Medicine, University of Brescia, ASST Spedali Civili Hospital, Brescia, Italy
242 rdf:type schema:Organization
 




Preview window. Press ESC to close (or click here)


...