دانلود مقالات ISI درباره کمبود ایمنی اولیه + ترجمه فارسی

R-loops cause genomic instability in T helper lymphocytes from patients with Wiskott-Aldrich syndrome

Keywords: کمبود ایمنی اولیه; Primary immunodeficiency; Wiskott-Aldrich syndrome; X-linked thrombocytopenia; TH1/TH2 differentiation; R-loops; DNA damage; genomic instability; ChIP; Chromatin immunoprecipitation; DDR; DNA damage response; DRB; 5,6-Dichlorobenzimidazole-1-β-D-ribofura

دانلود رایگان متن کامل مقاله ISI 87 صفحه سال انتشار : 2018 سفارش ترجمه

Primary immunodeficiencies in Chile evaluated through ICD-10 coded hospital admissions

Keywords: کمبود ایمنی اولیه; Chile; Hospitalisations; ICD-10; Intravenous immunoglobulin; Primary immunodeficiency;

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2017 سفارش ترجمه

A multicentre, prospective, non-randomized, sequential, open-label trial to demonstrate the bioequivalence between intravenous immunoglobulin new generation (IGNG) and standard IV immunoglobulin (IVIG) in adult patients with primary immunodeficiency (PID)

Keywords: کمبود ایمنی اولیه; Intravenous immunoglobulin; Primary immunodeficiency; Efficacy; Safety; Infection;

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2017 سفارش ترجمه

A novel germline gain-of-function variant in PIK3CD

Keywords: کمبود ایمنی اولیه; Primary immunodeficiency; Activated phosphoinositide 3-kinase δ syndrome; PIK3CD; PI3Kδ;

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2017 سفارش ترجمه

Mise au pointDéficit immunitaire primitif de l'adulte et auto-immunitéPrimary immunodeficiency and autoimmunity

Keywords: کمبود ایمنی اولیه; Déficit immunitaire primitif (DIP); Déficit immunitaire commun variable (DICV); Auto-immunité; Primary immunodeficiency; Common variable immunodeficiency (CVID); Autoimmunity;

دانلود رایگان متن کامل مقاله ISI 10 صفحه سال انتشار : 2017 سفارش ترجمه

Research paperTranscriptome analysis of CD34+ cells from myelodysplastic syndrome patients

Keywords: کمبود ایمنی اولیه; Myelodysplastic syndrome; Gene expression pathways; del(5q); Primary immunodeficiency; Hematopoietic cell lineage;

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2017 سفارش ترجمه

Terminal 14q32.33 deletion as a novel cause of agammaglobulinemia

Keywords: کمبود ایمنی اولیه; XLA; X-linked agammaglobulinemia; BTK; Bruton's tyrosine kinase; IGHC; Immunoglobulin heavy chain gene locus; SCID; Severe combined immunodeficiency syndrome; BCR; B-cell receptor; VDJ; Variable, diversity and joining gene segments; IGHM; Immunoglobulin h

دانلود رایگان متن کامل مقاله ISI 17 صفحه سال انتشار : 2017 سفارش ترجمه

Physical health conditions and quality of life in adults with primary immunodeficiency diagnosed during childhood: A French Reference Center for PIDs (CEREDIH) study

Keywords: کمبود ایمنی اولیه; Primary immunodeficiency; childhood; young adults; health status; quality of life; CEREDIH; French Reference Center for PIDs; CTCAE; Common Terminology Criteria for Adverse Events; CVID; Common variable immunodeficiency; ENT; Ear, nose, and throat; F-CILC

دانلود رایگان متن کامل مقاله ISI 32 صفحه سال انتشار : 2017 سفارش ترجمه

DOCK8 deficiency: Insights into pathophysiology, clinical features and management

Keywords: کمبود ایمنی اولیه; Actin; CDC42; Combined immunodeficiency; Dedicator of cytokinesis; DOCK2; DOCK8; Hyper IgE syndrome; Primary immunodeficiency; RAC1; STAT3; AR-HIES; autosomal recessive hyper IgE syndrome; AD-HIES; autosomal dominant hyper IgE syndrome; CDC42; cell divisi

دانلود رایگان متن کامل مقاله ISI 44 صفحه سال انتشار : 2017 سفارش ترجمه

Update on the use of immunoglobulin in human disease: A review of evidence

Keywords: کمبود ایمنی اولیه; Immune globulin; immunoglobulin; IVIG; SCIG; IGIV; transfusion; adverse events; primary immunodeficiency; immunomodulation; immune modulating; autoimmunity; AD; Atopic dermatitis; APS; Anti-phospholipid antibody syndrome; AT; Ataxia telangiectasia; BMI;

دانلود رایگان متن کامل مقاله ISI 46 صفحه سال انتشار : 2017 سفارش ترجمه

Long-term outcomes of 176 patients with X-linked hyper-IgM syndrome treated with or without hematopoietic cell transplantation

Keywords: کمبود ایمنی اولیه; X-linked hyper-IgM syndrome; CD40 ligand; hematopoietic cell transplantation; defects in class-switch recombination; long-term outcomes; primary immunodeficiency; Karnofsky/Lansky scores; CD40LG; CD40 ligand; GVHD; Graft-versus-host disease; HCT; Hematopo

دانلود رایگان متن کامل مقاله ISI 56 صفحه سال انتشار : 2017 سفارش ترجمه

Selective immunoglobulin M deficiency in an adult with miliary tuberculosis: A clinically interesting coexistence. A case report and review of the literature

Keywords: کمبود ایمنی اولیه; Selective IgM deficiency; Primary immunodeficiency; Unusual infections; Miliary tuberculosis

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2016 سفارش ترجمه

Clinical and structural impact of mutations affecting the residue Phe367 of FOXP3 in patients with IPEX syndrome

Keywords: کمبود ایمنی اولیه; FOXP3; IPEX; Primary immunodeficiency; Autoimmunity; Mutation;

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2016 سفارش ترجمه

The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency

Keywords: کمبود ایمنی اولیه; LPS-responsive beige-like anchor protein; primary immunodeficiency; common variable Immunodeficiency; autoimmunity; hypogammaglobulinemia; enteropathy; lymphoproliferation; ALPS; Autoimmune lymphoproliferative syndrome; ALPS-Ph; Autoimmune lymphoprolifera

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2016 سفارش ترجمه

Systemic Lupus Erythematosus: Is It One Disease?

Keywords: کمبود ایمنی اولیه; Systemic lupus erythematosus; Primary immunodeficiency; Interferonopathy; Complement deficiencyLupus eritematoso sistémico; Inmunodeficiencia primaria; Interferonopatía; Deficiencia de complemento

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2016 سفارش ترجمه

Lupus eritematoso sistémico: ¿es una sola enfermedad?

Keywords: کمبود ایمنی اولیه; Lupus eritematoso sistémico; Inmunodeficiencia primaria; Interferonopatía; Deficiencia de complementoSystemic lupus erythematosus; Primary immunodeficiency; Interferonopathy; Complement deficiency

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2016 سفارش ترجمه

Peripheral blood monocyte and T cell subsets in children with specific polysaccharide antibody deficiency (SPAD)

Keywords: کمبود ایمنی اولیه; Primary immunodeficiency; Pneumococcus; Monocytes; T cells; Cell activation; Cytokines

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2016 سفارش ترجمه

Adoptive immunotherapy for primary immunodeficiency disorders with virus-specific T lymphocytes

Keywords: کمبود ایمنی اولیه; Primary immunodeficiency; immunotherapy; cytotoxic T lymphocytes; antiviral therapy; ADV; Adenovirus; CMV; Cytomegalovirus; EBV-LPD; EBV-related lymphoproliferative disease; GVHD; Graft-versus-host disease; HHV6; Human herpesvirus 6; HSCT; Hematopoietic

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2016 سفارش ترجمه

A comparison of B cell subsets in primary immune deficiencies that progress with antibody deficiency and age-matched healthy children

Keywords: کمبود ایمنی اولیه; Antibody deficiency; B cells; Common variable immunodeficiency; Hypogammaglobulinaemia; Immunoglobulins; Lymphocytes; Memory B cell; Primary immunodeficiency; Transient hypogammaglobulinaemia

دانلود رایگان متن کامل مقاله ISI 10 صفحه سال انتشار : 2016 سفارش ترجمه

Primary immunodeficiency association with systemic lupus erythematosus: review of literature and lessons learned by the Rheumatology Division of a tertiary university hospital at São Paulo, Brazil

Keywords: کمبود ایمنی اولیه; Autoimmune disease; Primary immunodeficiency; Systemic lupus erythematosus; Antibodies deficiencyDoença autoimune; Imunodeficiência primária; Lúpus eritematoso sistêmico; Deficiência de anticorpos

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2016 سفارش ترجمه

Associação de imunodeficiência primária com lúpus eritematoso sistêmico: revisão da literatura e as lições aprendidas pela Divisão de Reumatologia de um hospital universitário terciário em São Paulo

Keywords: کمبود ایمنی اولیه; Doença autoimune; Imunodeficiência primária; Lúpus eritematoso sistêmico; Deficiência de anticorposAutoimmune disease; Primary immunodeficiency; Systemic lupus erythematosus; Antibodies deficiency

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2016 سفارش ترجمه

Immune deficiencies, infection, and systemic immune disordersMycobacterial disease in patients with chronic granulomatous disease: A retrospective analysis of 71 cases

Keywords: کمبود ایمنی اولیه; Mycobacteria; BCG; chronic granulomatous disease; tuberculosis; primary immunodeficiency; AR; Autosomal recessive; CGD; Chronic granulomatous disease; EM; Environmental mycobacteria; MSMD; Mendelian susceptibility to mycobacterial disease; NADPH; Nicotina

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2016 سفارش ترجمه

Exome and genome sequencing for inborn errors of immunity

Keywords: کمبود ایمنی اولیه; Next-generation sequencing; whole-exome sequencing; whole-genome sequencing; targeted sequencing; primary immunodeficiency; AD; Autosomal dominant; AF; Allele frequency; AR; Autosomal recessive; CADD; Combined annotation-dependent depletion; CID; Combined

دانلود رایگان متن کامل مقاله ISI 13 صفحه سال انتشار : 2016 سفارش ترجمه

X-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) gene

Keywords: کمبود ایمنی اولیه; Leukopenia; primary immunodeficiency; moesin; ezrin-radixin-moesin protein; adhesion; migration; 7AAD; 7-Aminoactinomycin D; BCR; B-cell receptor; CFSE; Carboxyfluorescein succinimidyl ester; ERM; Ezrin-radixin-moesin; FERM; Four-point-one, ezrin, radixin

دانلود رایگان متن کامل مقاله ISI 17 صفحه سال انتشار : 2016 سفارش ترجمه

Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study

Keywords: کمبود ایمنی اولیه; Primary immunodeficiency; phosphoinositide 3-kinase; p85α; p110δ; activated phosphoinositide 3-kinase δ syndrome; p110δ-activating mutations causing senescent T cells; lymphadenopathy; and immunodeficiency; hyper-IgM; adenopathy; immunodeficiency; an

دانلود رایگان متن کامل مقاله ISI 18 صفحه سال انتشار : 2016 سفارش ترجمه

B-cell Lymphoproliferative Disorders Associated with Primary and Acquired Immunodeficiency

Keywords: کمبود ایمنی اولیه; Primary immunodeficiency; Acquired immunodeficiency; B-Cell lymphoma; Post-transplant lymphoproliferative disorder

دانلود رایگان متن کامل مقاله ISI 23 صفحه سال انتشار : 2016 سفارش ترجمه

Immune deficiencies, infection, and systemic immune disordersSystematic neonatal screening for severe combined immunodeficiency and severe T-cell lymphopenia: Analysis of cost-effectiveness based on French real field data

Keywords: کمبود ایمنی اولیه; Primary immunodeficiency; severe combined immunodeficiency; severe T-cell lymphopenia; newborn screening; health economics; cost-effectiveness; health policy; CEREDIH; French National Center for Primary Immunodeficiencies; HSCT; Hematopoietic stem cell tr

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2015 سفارش ترجمه

Immunodeficiency-related vaccine-derived poliovirus (iVDPV) cases: A systematic review and implications for polio eradication

Keywords: کمبود ایمنی اولیه; AFP; acute flaccid paralysis; aVDPV; ambiguous vaccine-derived poliovirus; cVDPV; circulating vaccine-derived poliovirus; GNI; gross national income; GPEI; Global Polio Eradication Initiative; IPV; inactivated polio vaccine; iVDPV; immunodeficiency-relate

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2015 سفارش ترجمه

Fetal-onset IPEX: Report of two families and review of literature

Keywords: کمبود ایمنی اولیه; Fetal IPEX; Primary immunodeficiency; FOXP3; Type I diabetes mellitus; Miscarriages; Fetal hydrops;

دانلود رایگان متن کامل مقاله ISI 10 صفحه سال انتشار : 2015 سفارش ترجمه

Genetic errors of the human caspase recruitment domain-B-cell lymphoma 10-mucosa-associated lymphoid tissue lymphoma-translocation gene 1 (CBM) complex: Molecular, immunologic, and clinical heterogeneity

Keywords: کمبود ایمنی اولیه; Primary immunodeficiency; combined immunodeficiency; B-cell lymphoma 10; mucosa-associated lymphoid tissue lymphoma-translocation gene 1; CARMA1; caspase recruitment domain 9; AR; Autosomal recessive; BCL10; B-cell lymphoma 10; BCR; B-cell receptor; CARD;

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2015 سفارش ترجمه

Deletion of WASp and N-WASp in B cells cripples the germinal center response and results in production of IgM autoantibodies

Keywords: کمبود ایمنی اولیه; B cells; Germinal center; Autoimmunity; Primary immunodeficiency; Wiskott-Aldrich syndrome; N-WASpAID, activation induced deaminase; BCR, B cell receptor; CH, constant heavy chain; DZ, dark zone; FDCs, follicular dendritic cells; GC, germinal center; GEF,

دانلود رایگان متن کامل مقاله ISI 12 صفحه سال انتشار : 2015 سفارش ترجمه

Inherited CARD9 deficiency in otherwise healthy children and adults with Candida species-induced meningoencephalitis, colitis, or both

Keywords: کمبود ایمنی اولیه; Inborn error of immunity; primary immunodeficiency; invasive fungal diseases; inherited CARD9 deficiency; central nervous system; colitis; Candida species; human; CARD9; Caspase recruitment domain family, member 9; CMC; Chronic mucocutaneous candidiasis;

دانلود رایگان متن کامل مقاله ISI 13 صفحه سال انتشار : 2015 سفارش ترجمه

Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies

Keywords: کمبود ایمنی اولیه; Follicular helper T cells; humoral immunity; primary immunodeficiencies; cytokine signaling; Bcl-6; B-cell lymphoma 6; cTFH; Circulating follicular helper T; DN; Double-negative; DP; Double-positive; GC; Germinal center; GOF; Gain of function; IL-10R; IL-

دانلود رایگان متن کامل مقاله ISI 15 صفحه سال انتشار : 2015 سفارش ترجمه

Haploidentical stem cell transplantation in DOCK8 deficiency - Successful control of pre-existing severe viremia with a TCRaß/CD19-depleted graft and antiviral treatment

Keywords: کمبود ایمنی اولیه; HSCT; DOCK8 deficiency; Primary immunodeficiency; Hyper IgE;

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2014 سفارش ترجمه

Brief CommunicationHematopoietic stem cell transplantation conditioning with use of rituximab in EBV related lymphoproliferative disorders

Keywords: کمبود ایمنی اولیه; Rituximab; Stem cell transplantation; X-linked lymphoproliferative; Epstein Barr virus; ITK deficiency; Primary immunodeficiency;

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2014 سفارش ترجمه

New C1q mutation in a Tunisian family

Keywords: کمبود ایمنی اولیه; AA, amino acid; C1qD, C1q deficiency; SLE, systemic lupus erythematosus; LE, lupus erythematosusAutoimmunity; Classical pathway; Complement; C1q deficiency; Mutation; Primary immunodeficiency

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2014 سفارش ترجمه

A 10% liquid immunoglobulin preparation for intravenous use (Privigen®) in paediatric patients with primary immunodeficiencies and hypersensitivity to IVIG

Keywords: کمبود ایمنی اولیه; Adverse events; Efficacy; Intravenous immunoglobulin; Paediatrics; Primary immunodeficiency;

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2014 سفارش ترجمه

Immune deficiencies, infection, and systemic immune disordersA hypomorphic recombination-activating gene 1 (RAG1) mutation resulting in a phenotype resembling common variable immunodeficiency

Keywords: کمبود ایمنی اولیه; Common variable immunodeficiency; granulomatous lesion; recombination activation genes; differential diagnosis; mismanagement; CVID; Common variable immunodeficiency; MALToma; Mucosa-associated lymphoid tissue lymphoma; PID; Primary immunodeficiency; RAG1

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2014 سفارش ترجمه

Intestinal tuberculosis complicated with perforation during anti-tuberculous treatment in a 13-year-old girl with defective mitogen-induced IL-12 production

Keywords: کمبود ایمنی اولیه; Disseminated tuberculosis; Free intestinal perforation; Interleukin-12 deficiency; Primary immunodeficiency

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2014 سفارش ترجمه

Immune deficiencies, infection, and systemic immune disordersEstablishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: The Primary Immune Deficiency Treatment Consortium experience

Keywords: کمبود ایمنی اولیه; Allogeneic hematopoietic cell transplantation; gene therapy; primary immunodeficiency; clinical trial; ADA; Adenosine deaminase; ERT; Enzyme replacement therapy; HCT; Hematopoietic stem cell transplantation; PID; Primary immunodeficiency disease; PIDTC; P

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2014 سفارش ترجمه

Targeted next-generation sequencing: A novel diagnostic tool for primary immunodeficiencies

Keywords: کمبود ایمنی اولیه; Primary immunodeficiency; diagnosis; genetics; next-generation sequencing; ALPS; Autoimmune lymphoproliferative syndrome; CID; Combined immunodeficiency; HLH; Hemophagocytic lymphohistiocytosis; IUIS; International Union of Immunodeficiency Societies; NGS

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2014 سفارش ترجمه

Objawy kliniczne hipogammaglobulinemii u niemowląt i małych dzieci - znaczenie diagnostyczne „10 Objawów Ostrzegawczych Pierwotnego Niedoboru Odporności”

Keywords: کمبود ایمنی اولیه; pierwotny niedobór odporności; zakażenia; dzieci; objawy ostrzegawcze; Primary immunodeficiency; Infections; Children; Warning signs;

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2014 سفارش ترجمه

Long-term efficacy, safety, and tolerability of Hizentra® for treatment of primary immunodeficiency disease

Keywords: کمبود ایمنی اولیه; Hizentra; Primary immunodeficiency; Subcutaneous immunoglobulin; 20% SCIG;

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2014 سفارش ترجمه

Wiskott-Aldrich Syndrome protein deficiency perturbs the homeostasis of B-cell compartment in humans

Keywords: کمبود ایمنی اولیه; Wiskott-Aldrich Syndrome; Primary immunodeficiency; Autoimmunity; B lymphocyte; B-cell activating factor (BAFF); Immunoglobulin repertoire;

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2014 سفارش ترجمه

NK cell development and function – Plasticity and redundancy unleashed

Keywords: کمبود ایمنی اولیه; Natural killer cells; Primary immunodeficiency; Single nucleotide polymorphisms; Transcription factors; Cytotoxicity; Cytokine production

دانلود رایگان متن کامل مقاله ISI 13 صفحه سال انتشار : 2014 سفارش ترجمه

Immune deficiencies, infection, and systemic immune disordersHigh-content cytometry and transcriptomic biomarker profiling of human B-cell activation

Keywords: کمبود ایمنی اولیه; Primary immunodeficiency; primary antibody deficiency; B-cell immunology; chip cytometry; AID; Activation-induced cytidine deaminase; CD40L; CD40 ligand; CSR; Class-switch recombination; CVID; Common variable immunodeficiency; MACS; Magnetic-activated cel

دانلود رایگان متن کامل مقاله ISI 19 صفحه سال انتشار : 2014 سفارش ترجمه

Reviews and feature articleControversies in IgG replacement therapy in patients with antibody deficiency diseases

Keywords: کمبود ایمنی اولیه; Antibody deficiency; immunoglobulin replacement; common variable immunodeficiency; primary immunodeficiency; pneumococcal antibody concentration; specific antibody deficiency; CVID; Common variable immunodeficiency; PIDD; Primary immunodeficiency disease;

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2013 سفارش ترجمه

Signal transducer and activator of transcription 3 (STAT3) mutations underlying autosomal dominant hyper-IgE syndrome impair human CD8+ T-cell memory formation and function

Keywords: کمبود ایمنی اولیه; Autosomal dominant hyper-IgE syndrome; STAT3; STAT1; IL-21; human CD8+ T cells; memory; differentiation; AD-HIES; Autosomal dominant hyper-IgE syndrome; BCL; B-cell lymphoma; CTV; CellTrace Violet; EOMES; Eomesodermin; IL-21R; IL-21 receptor; LCMV; Lympho

دانلود رایگان متن کامل مقاله ISI 21 صفحه سال انتشار : 2013 سفارش ترجمه

X-linked thrombocytopenia in a female with a complex familial pattern of X-chromosome inactivation

Keywords: کمبود ایمنی اولیه; Wiskott–Aldrich syndrome; X-linked thrombocytopenia; X-chromosome inactivation; WAS gene; Primary immunodeficiency

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2013 سفارش ترجمه

The immunocompromised patient: primary immunodeficiencies

Keywords: کمبود ایمنی اولیه; bacterial infection; complement deficiencies; fungal infection; gene therapy; human stem cell transplantation; hypogammaglobulinaemia; immunoglobulin therapy; lymphocyte defects; neutropenia; phagocyte defects; primary immunodeficiency; viral infection

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2013 سفارش ترجمه