Congenital defects of phagocytes

[1]  P. Nilsson,et al.  Newborn Screening for Presymptomatic Diagnosis of Complement and Phagocyte Deficiencies , 2020, Frontiers in Immunology.

[2]  T. K. van den Berg,et al.  MKL1 deficiency results in a severe neutrophil motility defect due to impaired actin polymerization. , 2020, Blood.

[3]  K. Welte,et al.  New insights into the pathomechanism of cyclic neutropenia , 2020, Annals of the New York Academy of Sciences.

[4]  J. Casanova,et al.  Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee , 2020, Journal of Clinical Immunology.

[5]  A. Rawat,et al.  Leukocyte adhesion defect: Where do we stand circa 2019? , 2019, Genes & diseases.

[6]  Liping Li,et al.  Case report: two novel VPS13B mutations in a Chinese family with Cohen syndrome and hyperlinear palms , 2019, BMC Medical Genetics.

[7]  D. A. Weinstein,et al.  Glycogen storage disease type Ib: role of glucose‐6‐phosphate transporter in cell metabolism and function , 2019, FEBS letters.

[8]  J. Kere,et al.  Gain-of-function CEBPE mutation causes noncanonical autoinflammatory inflammasomopathy , 2019, The Journal of allergy and clinical immunology.

[9]  Y. Zhang,et al.  A novel mutation of the ITGB2 gene in a Chinese Zhuang minority patient with leukocyte adhesion deficiency type 1 and glucose-6-phosphate dehydrogenase deficiency. , 2019, Gene.

[10]  S. Ehl,et al.  The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity. , 2019, The journal of allergy and clinical immunology. In practice.

[11]  S. Holland,et al.  Dominant activating RAC2 mutation with lymphopenia, immunodeficiency, and cytoskeletal defects. , 2019, Blood.

[12]  C. Cantisani,et al.  Type I leucocyte adhesion deficiency in Yemenian family managed with appropriate treatment: A case series , 2019, Dermatologic therapy.

[13]  L. Dotta,et al.  Long-Term Outcome of WHIM Syndrome in 18 Patients: High Risk of Lung Disease and HPV-Related Malignancies. , 2019, The journal of allergy and clinical immunology. In practice.

[14]  R. Calado,et al.  GATA2 mutation in long stand Mycobacterium kansasii infection, myelodysplasia and MonoMAC syndrome: a case-report , 2019, BMC Medical Genetics.

[15]  D. Baralle,et al.  A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies. , 2019, American journal of human genetics.

[16]  R. Gavrieli,et al.  Leucocyte adhesion deficiency—A multicentre national experience , 2019, European journal of clinical investigation.

[17]  K. Sullivan Neutropenia as a sign of immunodeficiency. , 2019, The Journal of allergy and clinical immunology.

[18]  S. Sestito,et al.  Assessment of intrafamilial clinical variability of poikiloderma with neutropenia by a 10-year follow-up of three affected siblings. , 2019, European journal of medical genetics.

[19]  P. Newburger,et al.  Neutropenia in the age of genetic testing: Advances and challenges , 2018, American journal of hematology.

[20]  P. Newburger,et al.  How we approach: Severe congenital neutropenia and myelofibrosis due to mutations in VPS45 , 2018, Pediatric blood & cancer.

[21]  V. Bezzerri,et al.  Shwachman-Diamond Syndrome: Molecular Mechanisms and Current Perspectives , 2018, Molecular Diagnosis & Therapy.

[22]  M. van der Burg,et al.  Mutations affecting the actin regulator WD repeat–containing protein 1 lead to aberrant lymphoid immunity , 2018, The Journal of allergy and clinical immunology.

[23]  A. Borkhardt,et al.  EBV Negative Lymphoma and Autoimmune Lymphoproliferative Syndrome Like Phenotype Extend the Clinical Spectrum of Primary Immunodeficiency Caused by STK4 Deficiency , 2018, Front. Immunol..

[24]  Minghui He,et al.  Constitutive activation of WASp in X-linked neutropenia renders neutrophils hyperactive , 2018, The Journal of clinical investigation.

[25]  B. Fadeel,et al.  JAGN1 is required for fungal killing in neutrophil extracellular traps: Implications for severe congenital neutropenia , 2018, Journal of leukocyte biology.

[26]  Yiping Shen,et al.  Novel pathogenic RECQL4 variants in Chinese patients with Rothmund-Thomson syndrome. , 2018, Gene.

[27]  E. Colombo,et al.  Rothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer Outcome , 2018, International journal of molecular sciences.

[28]  K. Bennett,et al.  CEBPE-Mutant Specific Granule Deficiency Correlates With Aberrant Granule Organization and Substantial Proteome Alterations in Neutrophils , 2018, Front. Immunol..

[29]  A. Dupuy,et al.  Skin manifestations among GATA2‐deficient patients , 2018, The British journal of dermatology.

[30]  V. Nizet,et al.  The Ontogeny of a Neutrophil: Mechanisms of Granulopoiesis and Homeostasis , 2018, Microbiology and Molecular Biology Reviews.

[31]  Y. Okazaki,et al.  Barth Syndrome: Different Approaches to Diagnosis. , 2017, The Journal of pediatrics.

[32]  R. Badolato,et al.  How I treat warts, hypogammaglobulinemia, infections, and myelokathexis syndrome. , 2017, Blood.

[33]  J. Chelly,et al.  First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations , 2017, BMC Medical Genetics.

[34]  C. Bellanné-Chantelot,et al.  Congenital neutropenia in the era of genomics: classification, diagnosis, and natural history , 2017, British journal of haematology.

[35]  P. Newburger,et al.  A novel homozygous VPS45 p.P468L mutation leading to severe congenital neutropenia with myelofibrosis , 2017, Pediatric blood & cancer.

[36]  C. Saunders,et al.  A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients , 2017, Journal of Inherited Metabolic Disease.

[37]  K. Welte,et al.  Severe congenital neutropenias , 2017, Nature Reviews Disease Primers.

[38]  S. Alhaider,et al.  A newly identified novel variant in the CSF2RA gene in a child with pulmonary alveolar proteinosis: a case report , 2017, Journal of Medical Case Reports.

[39]  A. Schäffer,et al.  Chromatin-remodeling factor SMARCD2 regulates transcriptional networks controlling differentiation of neutrophil granulocytes , 2017, Nature Genetics.

[40]  G. Sauvageau,et al.  SMARCD2 subunit of SWI/SNF chromatin-remodeling complexes mediates granulopoiesis through a CEBPɛ dependent mechanism , 2017, Nature Genetics.

[41]  J. Kere,et al.  Combined immunodeficiency and hypoglycemia associated with mutations in hypoxia upregulated 1. , 2017, The Journal of allergy and clinical immunology.

[42]  J. Chou,et al.  Glycogen storage disease type Ib neutrophils exhibit impaired cell adhesion and migration. , 2017, Biochemical and biophysical research communications.

[43]  A. Schulz,et al.  Severe glucose‐6‐phosphate dehydrogenase deficiency leads to susceptibility to infection and absent NETosis , 2017, The Journal of allergy and clinical immunology.

[44]  Vanessa A Mackley,et al.  Cytoskeletal abnormalities and neutrophil dysfunction in WDR1 deficiency. , 2016, Blood.

[45]  S. Holland,et al.  Complete Myeloperoxidase Deficiency: Beware the "False-Positive" Dihydrorhodamine Oxidation. , 2016, The Journal of pediatrics.

[46]  M. Gallottini,et al.  Kostmann syndrome: oral aspects and 10-year follow-up case report. , 2016, Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry.

[47]  N. Thakker,et al.  Characterization of neutrophil function in Papillon‐Lefèvre syndrome , 2016, Journal of leukocyte biology.

[48]  L. de Meirleir,et al.  Shwachman–Diamond syndrome presenting with early ichthyosis, associated dermal and epidermal intracellular lipid droplets, hypoglycemia, and later distinctive clinical SDS phenotype , 2016, American journal of medical genetics. Part A.

[49]  K. Fidler,et al.  Beware of the persistent abscess: Chronic granulomatous disease presenting with suppurative lymphadenitis , 2016 .

[50]  L. Luzzatto,et al.  Glucose-6-Phosphate Dehydrogenase Deficiency. , 2016, Hematology/oncology clinics of North America.

[51]  Z. Zeng,et al.  HYOU1, Regulated by LPLUNC1, Is Up-Regulated in Nasopharyngeal Carcinoma and Associated with Poor Prognosis , 2016, Journal of Cancer.

[52]  E. Uz,et al.  STK4 (MST1) deficiency in two siblings with autoimmune cytopenias: A novel mutation. , 2015, Clinical immunology.

[53]  C. Klein,et al.  Severe congenital neutropenia with neurological impairment due to a homozygous VPS45 p.E238K mutation: A case report suggesting a genotype–phenotype correlation , 2015, American journal of medical genetics. Part A.

[54]  H. H. Akar,et al.  Clericuzio-type Poikiloderma with Neutropenia Syndrome in a Turkish Family: a Three Report of Siblings with Mutation in the C16orf57 gene. , 2015, Iranian journal of allergy, asthma, and immunology.

[55]  K. Welte,et al.  GM-CSF stimulates granulopoiesis in a congenital neutropenia patient with loss-of-function biallelic heterozygous CSF3R mutations. , 2015, Blood.

[56]  Cheng-Lung Ku,et al.  Successful Unrelated Cord Blood Stem Cell Transplantation in an X-linked Chronic Granulomatous Disease Patient with Disseminated BCG-induced Infection. , 2015, Pediatrics and neonatology.

[57]  G. Charras,et al.  Immunodeficiency and severe susceptibility to bacterial infection associated with a loss-of-function homozygous mutation of MKL1. , 2015, Blood.

[58]  T. Yokota,et al.  A Novel In-Frame Deletion in the Leucine Zipper Domain of C/EBPε Leads to Neutrophil-Specific Granule Deficiency , 2015, The Journal of Immunology.

[59]  I. Barlan,et al.  JAGN1 Deficient Severe Congenital Neutropenia: Two Cases from the Same Family , 2015, Journal of Clinical Immunology.

[60]  T. Meitinger,et al.  CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. , 2015, American journal of human genetics.

[61]  S. Holland,et al.  GATA2 deficiency , 2015, Current opinion in allergy and clinical immunology.

[62]  M. Gappa,et al.  Characterization of CSF2RA mutation related juvenile pulmonary alveolar proteinosis , 2014, Orphanet Journal of Rare Diseases.

[63]  A. Schäffer,et al.  JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia , 2014, Nature Genetics.

[64]  J. Ocampo-Candiani,et al.  Rothmund-Thomson Syndrome: A 13-Year Follow-Up , 2014, Case Reports in Dermatology.

[65]  A. Schäffer,et al.  Inherited biallelic CSF3R mutations in severe congenital neutropenia. , 2014, Blood.

[66]  C. Bellanné-Chantelot,et al.  Neurological findings and genetic alterations in patients with Kostmann syndrome and HAX1 mutations , 2014, Pediatric blood & cancer.

[67]  J. Orange,et al.  GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity. , 2014, Blood.

[68]  A. Khan,et al.  Spectrum of Papillon–Lefevre syndrome , 2014 .

[69]  J. Jefferies,et al.  Barth syndrome , 2019, Definitions.

[70]  J. Mullikin,et al.  A congenital neutrophil defect syndrome associated with mutations in VPS45. , 2013, The New England journal of medicine.

[71]  W. Newman,et al.  A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations , 2013, Orphanet Journal of Rare Diseases.

[72]  F. Rivier,et al.  Natural history of Barth syndrome: a national cohort study of 22 patients , 2013, Orphanet Journal of Rare Diseases.

[73]  E. Bertini,et al.  New clinical and molecular insights on Barth syndrome , 2013, Orphanet Journal of Rare Diseases.

[74]  M. Ashworth,et al.  Barth syndrome , 2013, Orphanet Journal of Rare Diseases.

[75]  E. Colombo,et al.  Clinical utility gene card for: poikiloderma with neutropenia , 2013, European Journal of Human Genetics.

[76]  R. Calado,et al.  Shwachman-Diamond syndrome: first molecular diagnosis in a Brazilian child , 2013, Revista brasileira de hematologia e hemoterapia.

[77]  L. Boxer How to approach neutropenia. , 2012, Hematology. American Society of Hematology. Education Program.

[78]  A. Gaggar,et al.  Innate immunity in cystic fibrosis lung disease. , 2012, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

[79]  P. Rosenberg,et al.  Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia. , 2012, The Journal of pediatrics.

[80]  A. Prince,et al.  Cystic fibrosis: a mucosal immunodeficiency syndrome , 2012, Nature Medicine.

[81]  A. Schäffer,et al.  The phenotype of human STK4 deficiency. , 2011, Blood.

[82]  C. Couture,et al.  Hereditary pulmonary alveolar proteinosis caused by recessive CSF2RB mutations , 2011, European Respiratory Journal.

[83]  Y. Crow,et al.  Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3 , 2011, European Journal of Human Genetics.

[84]  A. Schäffer,et al.  HAX1 mutations causing severe congenital neuropenia and neurological disease lead to cerebral microstructural abnormalities documented by quantitative MRI , 2010, American journal of medical genetics. Part A.

[85]  S. Sestito,et al.  Clericuzio‐type poikiloderma with neutropenia syndrome in three sibs with mutations in the C16orf57 gene: Delineation of the phenotype , 2010, American journal of medical genetics. Part A.

[86]  S. Liang,et al.  correspondence: Cyclic neutropenia associated with T cell immunity to granulocyte proteases and a double de novo mutation in GFI1, a transcriptional regulator of ELANE , 2010, British journal of haematology.

[87]  A. Afenjar,et al.  Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome , 2010, Journal of Medical Genetics.

[88]  L. Larizza,et al.  Rothmund-Thomson syndrome , 2010, Orphanet journal of rare diseases.

[89]  E. Gulbins,et al.  Cystic fibrosis and innate immunity: how chloride channel mutations provoke lung disease , 2009, Cellular microbiology.

[90]  Jonathan Bond,et al.  A large kindred with X‐linked neutropenia with an I294T mutation of the Wiskott‐Aldrich syndrome gene , 2009, British journal of haematology.

[91]  Bodo Grimbacher,et al.  Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations. , 2008, Blood.

[92]  R. Tenconi,et al.  Clinical and molecular characterization of Italian patients affected by Cohen syndrome , 2007, Journal of Human Genetics.

[93]  Bodo Grimbacher,et al.  A novel human primary immunodeficiency syndrome caused by deficiency of the endosomal adaptor protein p14 , 2007, Nature Medicine.

[94]  A. Kamarulzaman,et al.  Kostmann's syndrome. , 2005, Clinical imaging.

[95]  Yutaka Sato,et al.  Imaging of chronic granulomatous disease in children. , 2005, Radiographics : a review publication of the Radiological Society of North America, Inc.

[96]  Elias I Traboulsi,et al.  Delineation of Cohen syndrome following a large-scale genotype-phenotype screen. , 2004, American journal of human genetics.

[97]  George Eliopoulos,et al.  Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2 , 2003, Nature Genetics.

[98]  J. Clayton-Smith,et al.  Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport. , 2003, American journal of human genetics.

[99]  M. Almuneef,et al.  Pyogenic liver abscess and Papillon-Lefèvre syndrome: not a rare association. , 2003, Pediatrics.

[100]  G. Downey,et al.  Immune function in patients with Shwachman–Diamond syndrome , 2001, British journal of haematology.

[101]  G L Johnson,et al.  Human neutrophil immunodeficiency syndrome is associated with an inhibitory Rac2 mutation. , 2000, Proceedings of the National Academy of Sciences of the United States of America.