(Q45941253)

18 December 2017

title

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

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18 December 2017

author

Nima Rezaei

3

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18 December 2017

Javad Mohammadi

Javad Mohammadi

8

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Hassan Abolhassani

Hassan Abolhassani

6

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Asghar Aghamohammadi

Asghar Aghamohammadi

1

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Lennart Hammarström

9

Lennart Hammarström

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18 December 2017

Nima Parvaneh

2

Nima Parvaneh

1 reference

18 December 2017

Sara Kashef

5

Sara Kashef

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18 December 2017

author name string

Kasra Moazzami

4

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18 December 2017

Amir Imanzadeh

7

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18 December 2017

publication date

3 July 2009

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18 December 2017

Journal of Clinical Immunology

published in

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18 December 2017

volume

29

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18 December 2017

issue

6

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18 December 2017

page(s)

769-776

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18 December 2017

https://scigraph.springernature.com/pub.10.1007/s10875-009-9315-7

exact match

0 references

cites work

Hyper-IgM syndrome type 4 with a B lymphocyte-intrinsic selective deficiency in Ig class-switch recombination

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10875-009-9315-7

Clinical spectrum of X-linked hyper-IgM syndrome

21 January 2018

1 reference

12 December 2020

CD40 ligand deficiency presenting as unresponsive neutropenia

1 reference

12 December 2020

Immunoglobulin isotype switching is inhibited and somatic hypermutation perturbed in UNG-deficient mice

1 reference

12 December 2020

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

1 reference

12 December 2020

X-linked immunodeficiency with hyper-IgM (XHIM).

1 reference

12 December 2020

Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination

1 reference

12 December 2020

Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination

1 reference

12 December 2020

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

1 reference

12 December 2020

Human models of inherited immunoglobulin class switch recombination and somatic hypermutation defects (hyper-IgM syndromes).

1 reference

12 December 2020

The X-linked hyper-IgM syndrome: clinical and immunologic features of 79 patients.

1 reference

12 December 2020

Isolated growth hormone deficiency in a patient with immunoglobulin class switch recombination deficiency

1 reference

12 December 2020

Neutropenia in Iranian patients with primary immunodeficiency disorders.

1 reference

12 December 2020

Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM.

1 reference

12 December 2020

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

1 reference

12 December 2020

Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia

1 reference

12 December 2020

AID mediates hypermutation by deaminating single stranded DNA.

1 reference

12 December 2020

Type two hyper-IgM syndrome caused by mutation in activation-induced cytidine deaminase

1 reference

12 December 2020

1 reference

12 December 2020

Defects of class-switch recombination

1 reference

12 December 2020

Mutations of the CD40 ligand gene and its effect on CD40 ligand expression in patients with X-linked hyper IgM syndrome.

1 reference

12 December 2020

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

1 reference

12 December 2020

The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndrome

1 reference

12 December 2020

Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM

1 reference

12 December 2020

The structural basis of hyper IgM deficiency - CD40L mutations.

1 reference

12 December 2020

Mutation analysis and therapeutic response to granulocyte colony-stimulating factor in a case of hyperimmunoglobulin M syndrome with chronic neutropenia

1 reference

12 December 2020

Neutropenia in patients with primary antibody deficiency disorders.

1 reference

12 December 2020

Abnormal CD40-mediated activation pathway in B lymphocytes from patients with hyper-IgM syndrome and normal CD40 ligand expression

1 reference

12 December 2020

Successful management of neutropenia in a patient with CD40 ligand deficiency by immunoglobulin replacement therapy.

1 reference

12 December 2020

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

1 reference

12 December 2020

Immunodeficiency with hyper-IgM (HIM)

1 reference

12 December 2020

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

1 reference

12 December 2020

The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation.

1 reference

12 December 2020

A single strand conformation polymorphism study of CD40 ligand. Efficient mutation analysis and carrier detection for X-linked hyper IgM syndrome

1 reference

12 December 2020

10.1007/S10875-009-9315-7

Identifiers

DOI

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18 December 2017

Dimensions Publication ID

1002546892

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18 December 2017