(Q38928362)

English

First report of the Hyper-IgM syndrome Registry of the Latin American Society for Immunodeficiencies: novel mutations, unique infections, and outcomes

scientific article published on 9 January 2014

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scholarly article

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Europe PubMed Central

PubMed publication ID

7 September 2017

First report of the Hyper-IgM syndrome Registry of the Latin American Society for Immunodeficiencies: novel mutations, unique infections, and outcomes (English)

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7 September 2017

Juan Carlos Aldave

object named as

Juan Carlos Aldave

33

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Leopoldo Santos-Argumedo

object named as

Leopoldo Santos-Argumedo

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Anete S Grumach

object named as

Anete S Grumach

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object named as

Anne Durandy

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46

object named as

Hans D Ochs

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7 September 2017

Otavio Cabral-Marques

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Otavio Cabral-Marques

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7 September 2017

author name string

Stefanie Klaver

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Lena F Schimke

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Évelyn H Ascendino

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Taj Ali Khan

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Paulo Vítor Soeiro Pereira

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Angela Falcai

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Alexander Vargas-Hernández

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Liliana Bezrodnik

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Ileana Moreira

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Gisela Seminario

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Daniela Di Giovanni

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Andrea Gómez Raccio

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Oscar Porras

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Cristina Worm Weber

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Janaíra Fernandes Ferreira

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Fabiola Scancetti Tavares

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Elisa de Carvalho

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Claudia França Cavalcante Valente

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Gisele Kuntze

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Miguel Galicchio

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Alejandra King

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Nelson Augusto Rosário-Filho

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Milena Baptistella Grota

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Maria Marluce dos Santos Vilela

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Regina Sumiko Watanabe Di Gesu

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Simone Lima

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Leiva de Souza Moura

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Eduardo Talesnik

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Eli Mansour

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Pérsio Roxo-Junior

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Ekaterine Goudouris

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Fernanda Pinto-Mariz

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Laura Berrón-Ruiz

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Tamara Staines-Boone

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Wilmer O Córdova Calderón

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María del Carmen Zarate-Hernández

39

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7 September 2017

Ricardo Sorensen

41

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Troy R Torgerson

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Beatriz Tavares Costa Carvalho

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Francisco Espinosa-Rosales

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7 September 2017

Antonio Condino-Neto

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7 September 2017

publication date

9 January 2014

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7 September 2017

Journal of Clinical Immunology

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7 September 2017

34

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2

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146-156

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7 September 2017

https://scigraph.springernature.com/pub.10.1007/s10875-013-9980-4

0 references

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

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9980-4

21 January 2018

X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9980-4

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9980-4

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9980-4

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9980-4

21 January 2018

Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9980-4

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9980-4

21 January 2018

Defects of class-switch recombination

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9980-4

21 January 2018

Dendritic cells from X-linked hyper-IgM patients present impaired responses to Candida albicans and Paracoccidioides brasiliensis.

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9980-4

21 January 2018

Defects of T-cell effector function and post-thymic maturation in X-linked hyper-IgM syndrome

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9980-4

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9980-4

21 January 2018

Expanding the clinical and genetic spectrum of human CD40L deficiency: the occurrence of paracoccidioidomycosis and other unusual infections in Brazilian patients.

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9980-4

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9980-4

21 January 2018

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9980-4

21 January 2018

Describing structural changes by extending HGVS sequence variation nomenclature.

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9980-4

21 January 2018

Clinical follow-up of 11 Argentinian CD40L-deficient patients with 7 unique mutations including the so-called "milder" mutants

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9980-4

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9980-4

21 January 2018

Mutational screening of the CD40 ligand (CD40L) gene in patients with X linked hyper-IgM syndrome (XHIM) and determination of carrier status in female relatives

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9980-4

21 January 2018

A structural basis for the biochemical behavior of activation-induced deoxycytidine deaminase class-switch recombination-defective hyper-IgM-2 mutants

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9980-4

21 January 2018

Clinical spectrum of X-linked hyper-IgM syndrome

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9980-4

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9980-4

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9980-4

21 January 2018

Advancing the management of primary immunodeficiency diseases in Latin America: Latin American Society for Immunodeficiencies (LASID) Initiatives.

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9980-4

21 January 2018

Critical issues and needs in management of primary immunodeficiency diseases in Latin America.

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9980-4

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9980-4

21 January 2018

Diarrhea in the immunocompromised patient

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9980-4

21 January 2018

Infections associated with chronic granulomatous disease: linking genetics to phenotypic expression

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9980-4

21 January 2018

Aspergillus nidulans and chronic granulomatous disease: a unique host-pathogen interaction

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9980-4

21 January 2018

Fatal aspergillosis with brain abscesses in a neonate with DiGeorge syndrome.

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9980-4

21 January 2018

Common variable immunodeficiency and isosporiasis: first report case.

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9980-4

21 January 2018

Successful transplantation of haploidentical CD34+ selected bone marrow cells for an infantile case of severe combined immunodeficiency with aspergillus pneumonia

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9980-4

21 January 2018

Parvovirus B19-induced anemia as the presenting manifestation of X-linked hyper-IgM syndrome

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9980-4

21 January 2018

Hematopoietic stem cell transplantation: a global perspective

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9980-4

21 January 2018

Functional defects of dendritic cells in patients with CD40 deficiency

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9980-4

21 January 2018

CD40 ligand mutations in X-linked immunodeficiency with hyper-IgM

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9980-4

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9980-4

21 January 2018

Characterization of nine novel mutations in the CD40 ligand gene in patients with X-linked hyper IgM syndrome of various ancestry

1 reference

https://pubmed.ncbi.nlm.nih.gov/24402618

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Response to polysaccharide antigens in patients with ataxia-telangiectasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/24402618

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new biological disorder: agammaglobulinemia with beta2-macroglobulinemia (a case)

1 reference

https://pubmed.ncbi.nlm.nih.gov/24402618

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Myeoplasma pneumoniae Infections in Patients with Immunodeficiency Syndromes: Report of Four Cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/24402618

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/24402618

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/24402618

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/24402618

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Unique susceptibility of patients with antibody deficiency to mycoplasma infection.

1 reference

https://pubmed.ncbi.nlm.nih.gov/24402618

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[An example of atypical agammaglobulinemia (a case of severe hypogammaglobulinemia with increase of the beta-2 macroglobulin.]

1 reference

https://pubmed.ncbi.nlm.nih.gov/24402618

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pulmonary aspergillosis in a child with hyperimmunoglobulin E syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/24402618

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

CD40-CD40 ligand interaction is central to cell-mediated immunity against Toxoplasma gondii: patients with hyper IgM syndrome have a defective type 1 immune response that can be restored by soluble CD40 ligand trimer

1 reference

https://pubmed.ncbi.nlm.nih.gov/24402618

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dysgammaglobulinaemia and recurrent bacterial infection

1 reference

https://pubmed.ncbi.nlm.nih.gov/24402618

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular genetic analysis of Hungarian patients with the hyper-immunoglobulin M syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/24402618

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Immunodeficiency with hyper-IgM (HIM)

1 reference

https://pubmed.ncbi.nlm.nih.gov/24402618

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10875-013-9980-4

1 reference

Europe PubMed Central

PubMed publication ID

7 September 2017

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PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

7 September 2017

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