(Q37610443)

21 August 2017

1 reference

title

Neutropenia and primary immunodeficiency diseases (English)

1 reference

21 August 2017

1

Nima Rezaei

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21 August 2017

3

Asghar Aghamohammadi

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21 August 2017

Kasra Moazzami

2

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21 August 2017

Christoph Klein

series ordinal

4

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21 August 2017

publication date

1 January 2009

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International Reviews of Immunology

21 August 2017

published in

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21 August 2017

volume

28

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21 August 2017

issue

5

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21 August 2017

page(s)

335-366

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Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee

21 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Autoimmunity in human primary immunodeficiency diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Hematologic complications of primary immune deficiencies

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Neutropenia associated with primary immunodeficiency syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Severe congenital neutropenia: new genes explain an old disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Genetic heterogeneity in severe congenital neutropenia: how many aberrant pathways can kill a neutrophil?

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Congenital neutropenia syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Severe congenital neutropenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Severe congenital neutropenia: inheritance and pathophysiology

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Congenital neutropenia and primary immunodeficiency disorders: a survey of 26 Iranian patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Association of HAX1 deficiency with neurological disorder.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

A syndrome with congenital neutropenia and mutations in G6PC3

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Genetic and molecular diagnosis of severe congenital neutropenia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Double de novo mutations of ELA2 in cyclic and severe congenital neutropenia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Mutations of the ELA2 gene found in patients with severe congenital neutropenia induce the unfolded protein response and cellular apoptosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Severe congenital neutropenia and the unfolded protein response

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Mutations associated with neutropenia in dogs and humans disrupt intracellular transport of neutrophil elastase

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Hereditary neutropenia: dogs explain human neutrophil elastase mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Cellular and molecular abnormalities in severe congenital neutropenia predisposing to leukemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

The polycystic kidney disease protein PKD2 interacts with Hax-1, a protein associated with the actin cytoskeleton

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Galpha13 stimulates cell migration through cortactin-interacting protein Hax-1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Hax1-mediated processing of HtrA2 by Parl allows survival of lymphocytes and neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Mechanisms of WASp-mediated hematologic and immunologic disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Unregulated actin polymerization by WASp causes defects of mitosis and cytokinesis in X-linked neutropenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

21 January 2018

The renaissance of GSK3

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Gfi-1 restricts proliferation and preserves functional integrity of haematopoietic stem cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

The incidence of leukemia and mortality from sepsis in patients with severe congenital neutropenia receiving long-term G-CSF therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Mutations in the gene for the granulocyte colony-stimulating-factor receptor in patients with acute myeloid leukemia preceded by severe congenital neutropenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Incidence of CSF3R mutations in severe congenital neutropenia and relevance for leukemogenesis: Results of a long-term survey.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Cyclic neutropenia: a clinical review

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Neutrophil elastase in cyclic and severe congenital neutropenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Haematological abnormalities in Shwachman-Diamond syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Clonal evolution in marrows of patients with Shwachman-Diamond syndrome: a prospective 5-year follow-up study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Shwachman syndrome: phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Shwachman-Diamond syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Psychological characteristics of children with Shwachman syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Shwachman's syndrome. A review of 21 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Mutations in SBDS are associated with Shwachman-Diamond syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Ribosomal dysfunction and inherited marrow failure

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Natural killer (HNK-1+) cells in Chediak-Higashi patients are present in normal numbers but are abnormal in function and morphology

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Analysis of the lysosomal storage disease Chediak-Higashi syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Chediak-Higashi syndrome: a clinical and molecular view of a rare lysosomal storage disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Identification of mutations in two major mRNA isoforms of the Chediak-Higashi syndrome gene in human and mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Lytic granules, secretory lysosomes and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

21 January 2018

Chediak-Higashi syndrome

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Genetics of pigmentary disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

A syndrome associating partial albinism and immunodeficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

A mutation in Rab27a causes the vesicle transport defects observed in ashen mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Rab27a is required for regulated secretion in cytotoxic T lymphocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Rab27a is a key component of the secretory machinery of azurophilic granules in granulocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Adaptor protein 3-dependent microtubule-mediated movement of lytic granules to the immunological synapse

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Linking albinism and immunity: the secrets of secretory lysosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Novel insights from adaptor protein 3 complex deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

CTL secretory lysosomes: biogenesis and secretion of a harmful organelle

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

A novel human primary immunodeficiency syndrome caused by deficiency of the endosomal adaptor protein p14.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

p14-MP1-MEK1 signaling regulates endosomal traffic and cellular proliferation during tissue homeostasis

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

WHIM syndrome: a defect in CXCR4 signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

WHIM syndrome: a genetic disorder of leukocyte trafficking

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

A new familial immunodeficiency disorder characterized by severe neutropenia, a defective marrow release mechanism, and hypogammaglobulinemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Role of the intracellular domains of CXCR4 in SDF-1-mediated signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Role of the CXCR4/SDF-1 chemokine axis in circulating neutrophil homeostasis

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

G-CSF is an essential regulator of neutrophil trafficking from the bone marrow to the blood

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Leukocyte elastase negatively regulates Stromal cell-derived factor-1 (SDF-1)/CXCR4 binding and functions by amino-terminal processing of SDF-1 and CXCR4.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Defective expression of the CD40 ligand in X chromosome-linked immunoglobulin deficiency with normal or elevated IgM

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Severe congenital neutropenia or hyper-IgM syndrome? A novel mutation of CD40 ligand in a patient with severe neutropenia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

X-linked hyper-IgM syndrome associated with poorly differentiated neuroendocrine tumor presenting as obstructive jaundice secondary to extensive adenopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Defective expression of CD40 ligand on T cells causes "X-linked immunodeficiency with hyper-IgM (HIGM1)".

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

X-linked agammaglobulinemia: a survey of 33 Iranian patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

X linked agammaglobulinaemia and rheumatoid arthritis

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Mutations in the mu heavy-chain gene in patients with agammaglobulinemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

BTKbase: the mutation database for X-linked agammaglobulinemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Mutations in the human lambda5/14.1 gene result in B cell deficiency and agammaglobulinemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Novel Igalpha (CD79a) gene mutation in a Turkish patient with B cell-deficient agammaglobulinemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Mutations of the Igbeta gene cause agammaglobulinemia in man.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

An essential role for BLNK in human B cell development

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Neutropenia in X-linked agammaglobulinemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Extremely thermophilic and thermostable 5'-methylthioadenosine phosphorylase from the archaeon Sulfolobus solfataricus. Gene cloning and amino acid sequence determination

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Two novel mutations in a purine nucleoside phosphorylase (PNP)-deficient patient

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Deoxyguanosine toxicity in a mouse T lymphoma: Relationship to purine nucleoside phosphorylase-associated immune dysfunction

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Central nervous system dysfunction and erythrocyte guanosine triphosphate depletion in purine nucleoside phosphorylase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Autoimmune lymphoproliferative syndrome: molecular basis of disease and clinical phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

A composite picture of TcR alpha/beta(+) CD4(-)CD8(-) T Cells (alpha/beta-DNTCs) in humans with autoimmune lymphoproliferative syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Fas ligand mutation in a patient with systemic lupus erythematosus and lymphoproliferative disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Pleiotropic defects in lymphocyte activation caused by caspase-8 mutations lead to human immunodeficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Inherited human Caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Chronic neutropenia and abnormal cellular immunity in cartilage-hair hypoplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Skeletal growth in cartilage-hair hypoplasia. A radiological study of 82 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Hirschsprung's disease in cartilage-hair hypoplasia has poor prognosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Defective neutrophil and monocyte functions in glycogen storage disease type Ib: a literature review

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I).

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Glucose-6-phosphatase dependent substrate transport in the glycogen storage disease type-1a mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

The glucose-regulated proteins: stress induction and clinical applications

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Neutrophil stress and apoptosis underlie myeloid dysfunction in glycogen storage disease type Ib

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Preliminary evidence for a cognitive phenotype in Barth syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

A novel X-linked gene, G4.5. is responsible for Barth syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Neutrophils in Barth syndrome (BTHS) avidly bind annexin-V in the absence of apoptosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Dyskeratosis congenita in all its forms

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Congenital immunodeficiency and agranulocytosis (reticular dysgenesia)

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Cohen syndrome: essential features, natural history, and heterogeneity

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Analysis of the human VPS13 gene family

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Severe chronic neutropenia: treatment and follow-up of patients in the Severe Chronic Neutropenia International Registry

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Lessons from congenital neutropenia: 50 years of progress in understanding myelopoiesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

The kinetics of human granulopoiesis following treatment with granulocyte colony-stimulating factor in vivo.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Granulocyte colony-stimulating factor inhibits the mitochondria-dependent activation of caspase-3 in neutrophils

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Clinical spectrum of X-linked hyper-IgM syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Molecular analysis of the pre-BCR complex in a large cohort of patients affected by autosomal-recessive agammaglobulinemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

Innate immunity defects in Hermansky-Pudlak type 2 syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F08830180902995645

10.1080/08830180902995645

21 January 2018

Identifiers

DOI

1 reference

21 August 2017

1 reference