Novel mutation of the activation-induced cytidine deaminase gene in a Tajik family: special review on hyper-immunoglobulin M syndrome. (Q34300622)

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13 February 2020

title

Novel mutation of the activation-induced cytidine deaminase gene in a Tajik family: special review on hyper-immunoglobulin M syndrome (English)

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1

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Asghar Aghamohammadi

4

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Mohammad Reza Masjedi

6

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Mohammadreza Masjedi

7

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Qiang Pan-Hammarström

8

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Nima Rezaei

9

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Lennart Hammarström

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author name string

Armin Hirbod-Mobarakeh

2

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Ning Wang

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publication date

1 August 2012

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Expert Review of Clinical Immunology

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published in

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volume

8

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issue

6

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page(s)

539-546

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Update on the hyper immunoglobulin M syndromes

13 February 2020

cites work

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Genetically acquired class-switch recombination defects: the multi-faced hyper-IgM syndrome

21 January 2018

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Neuroendocrine carcinoma associated with X-linked hyper-immunoglobulin M syndrome: report of four cases and review of the literature

21 January 2018

1 reference

Autoimmunity in hyper-IgM syndrome.

21 January 2018

1 reference

Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiency

21 January 2018

1 reference

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

21 January 2018

1 reference

Clinical and laboratory findings in hyper-IgM syndrome with novel CD40L and AICDA mutations.

21 January 2018

1 reference

A novel activation-induced cytidine deaminase gene mutation in a Tunisian family with hyper IgM syndrome

21 January 2018

1 reference

Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2)

21 January 2018

1 reference

Specific expression of activation-induced cytidine deaminase (AID), a novel member of the RNA-editing deaminase family in germinal center B cells

21 January 2018

1 reference

Retrospective diagnosis of X-linked hyper-IgM syndrome in a family with multiple deaths of affected males

21 January 2018

1 reference

Cross-talk between CD40 and CD40L: lessons from primary immune deficiencies

21 January 2018

1 reference

Allogeneic hematopoietic stem cell transplantation for seven children with X-linked hyper-IgM syndrome: a single center experience

21 January 2018

1 reference

Activation-induced cytidine deaminase: structure-function relationship as based on the study of mutants

21 January 2018

1 reference

The structural basis of hyper IgM deficiency - CD40L mutations.

21 January 2018

1 reference

Molecular analysis of a large cohort of patients with the hyper immunoglobulin M (IgM) syndrome

21 January 2018

1 reference

Dissociation of in vitro DNA deamination activity and physiological functions of AID mutants

21 January 2018

1 reference

De novo protein synthesis is required for activation-induced cytidine deaminase-dependent DNA cleavage in immunoglobulin class switch recombination

21 January 2018

1 reference

Molecular mechanism for generation of antibody memory

21 January 2018

1 reference

AID mutates E. coli suggesting a DNA deamination mechanism for antibody diversification

21 January 2018

1 reference

Regulation of aicda expression and AID activity: relevance to somatic hypermutation and class switch DNA recombination

21 January 2018

1 reference

AID mutant analyses indicate requirement for class-switch-specific cofactors

21 January 2018

1 reference

Separate domains of AID are required for somatic hypermutation and class-switch recombination

21 January 2018

1 reference

Mutations in activation-induced cytidine deaminase in patients with hyper IgM syndrome

21 January 2018

1 reference

Protective effect of IgM against colonization of the respiratory tract by nontypeable Haemophilus influenzae in patients with hypogammaglobulinemia

21 January 2018

1 reference

Immunodeficiency mutation databases (IDbases).

21 January 2018

1 reference

RAPID: Resource of Asian Primary Immunodeficiency Diseases

21 January 2018

1 reference

Association between a new polymorphism in the activation-induced cytidine deaminase gene and atopic asthma and the regulation of total serum IgE levels

21 January 2018

1 reference

Hyper-IgM syndrome with putative dominant negative mutation in activation-induced cytidine deaminase

21 January 2018

1 reference

Analysis of class switch recombination and somatic hypermutation in patients affected with autosomal dominant hyper-IgM syndrome type 2.

21 January 2018

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C-terminal deletion of AID uncouples class switch recombination from somatic hypermutation and gene conversion.

21 January 2018

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The C-terminal region of activation-induced cytidine deaminase is responsible for a recombination function other than DNA cleavage in class switch recombination

21 January 2018

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Activation-induced cytidine deaminase shuttles between nucleus and cytoplasm like apolipoprotein B mRNA editing catalytic polypeptide 1

21 January 2018

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21 January 2018

Identifiers

DOI

10.1586/ECI.12.46

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