Clinical, immunologic and genetic profiles of DOCK8-deficient patients in Kuwait. - Wikidata - wikimedia - TriplyDB

Clinical, immunologic and genetic profiles of DOCK8-deficient patients in Kuwait.

Clinical, immunologic and genetic profiles of DOCK8-deficient patients in Kuwait.

http://www.wikidata.org/entity/Q37483370

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Eosinophilia Associated with Disorders of Immune Deficiency or Immune Dysregulation Actin cytoskeletal defects in immunodeficiency Dedicator of cytokinesis 8-deficient patients have a breakdown in peripheral B-cell tolerance and defective regulatory T cells.The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency.Partial defects of T-cell development associated with poor T-cell function.Defective actin accumulation impairs human natural killer cell function in patients with dedicator of cytokinesis 8 deficiency.DOCK8 deficiency in six Iranian patients.Recent Advances in DOCK8 Immunodeficiency Syndrome.DOCK8 deficiency: clinical and immunological phenotype and treatment options - a review of 136 patients.Hematopoietic stem cell transplantation outcomes for 11 patients with dedicator of cytokinesis 8 deficiency Current Status of Dedicator of Cytokinesis-Associated Immunodeficiency: DOCK8 and DOCK2.The clinical and laboratory spectrum of dedicator of cytokinesis 8 immunodeficiency syndrome in patients with a unique mutation.DOCK8 deficiency: Insights into pathophysiology, clinical features and management.Dedicator of cytokinesis 8 regulates signal transducer and activator of transcription 3 activation and promotes TH17 cell differentiation.Key findings to expedite the diagnosis of hyper-IgE syndromes in infants and young children.Novel dedicator of cytokinesis 8 mutations identified by multiplex ligation-dependent probe amplification.Clinical, immunological and molecular characterization of DOCK8 and DOCK8-like deficient patients: single center experience of twenty-five patients.DOCK8 enforces immunological tolerance by promoting IL-2 signaling and immune synapse formation in Tregs.Clinical and immunological correction of DOCK8 deficiency by allogeneic hematopoietic stem cell transplantation following a reduced toxicity conditioning regimen.Interaction of septin 7 and DOCK8 in equine lymphocytes reveals novel insights into signaling pathways associated with autoimmunity

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Clinical, immunologic and genetic profiles of DOCK8-deficient patients in Kuwait.

http://www.wikidata.org/entity/Q37483370

description

article científic

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article scientifique

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articolo scientifico

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artigo científico

@pt

bilimsel makale

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scientific article published on 30 March 2012

@en

vedecký článok

@sk

vetenskaplig artikel

@sv

videnskabelig artikel

@da

vědecký článek

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name

Clinical, immunologic and genetic profiles of DOCK8-deficient patients in Kuwait.

@en

Clinical, immunologic and genetic profiles of DOCK8-deficient patients in Kuwait.

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type

label

Clinical, immunologic and genetic profiles of DOCK8-deficient patients in Kuwait.

@en

Clinical, immunologic and genetic profiles of DOCK8-deficient patients in Kuwait.

@nl

prefLabel

Clinical, immunologic and genetic profiles of DOCK8-deficient patients in Kuwait.

@en

Clinical, immunologic and genetic profiles of DOCK8-deficient patients in Kuwait.

@nl

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J.CLIM.2012.03.002

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Clinical Immunology

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Clinical, immunologic and genetic profiles of DOCK8-deficient patients in Kuwait.

@en

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Arti Nanda

http://www.w3.org/2001/XMLSchema#string

Bodo Grimbacher

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Karin R Engelhardt

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Luigi Notarangelo

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Michel J Massaad

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Raif S Geha

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Raj Ragupathy

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Raja'a Al-Attiyah

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Talal Chatila

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Waleed Al-Herz

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P2860

DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation

Combined immunodeficiency associated with DOCK8 mutations

DOCK8 is essential for T-cell survival and the maintenance of CD8+ T-cell memory

Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome.

Dedicator of cytokinesis 8 (DOCK8) deficiency

Genetic, clinical, and laboratory markers for DOCK8 immunodeficiency syndrome.

Dock8 mutations cripple B cell immunological synapses, germinal centers and long-lived antibody production.

Parental consanguinity and the risk of primary immunodeficiency disorders: report from the Kuwait National Primary Immunodeficiency Disorders Registry.

Clinical manifestations of hyper IgE syndromes.

DOCK8 deficiency.

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266-272

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scholarly article

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10.1016/J.CLIM.2012.03.002

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3

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143

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2012-03-30T00:00:00Z

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22534316

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