Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes. (Q33807995)

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English	Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes.	scientific article

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23 March 2020

Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes (English)

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23 March 2020

common variable immunodeficiency

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Delfien Bogaert

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23 March 2020

Melissa Dullaers

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23 March 2020

Marieke De Bruyne

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23 March 2020

Frauke Coppieters

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23 March 2020

Elfride De Baere

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23 March 2020

Filomeen Haerynck

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Filomeen Haerynck

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23 March 2020

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Hye Sun Kuehn

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23 March 2020

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Bart N Lambrecht

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23 March 2020

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Frans De Baets

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23 March 2020

Sergio D Rosenzweig

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Sergio D Rosenzweig

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23 March 2020

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Bart P Leroy

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23 March 2020

Julie E Niemela

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23 March 2020

Hans De Wilde

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23 March 2020

Sarah De Schryver

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23 March 2020

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16 June 2017

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23 March 2020

Scientific Reports

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23 March 2020

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23 March 2020

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23 March 2020

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23 March 2020

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Creative Commons Attribution 4.0 International

16 June 2017

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April 2022 Public Data File from Crossref

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0 references

Genes associated with common variable immunodeficiency: one diagnosis to rule them all?

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Clinical sequencing: is WGS the better WES?

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28 July 2018

International Consensus Document (ICON): Common Variable Immunodeficiency Disorders

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28 July 2018

Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.

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28 July 2018

De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing

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28 July 2018

Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy.

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Transcriptional regulation of follicular T-helper (Tfh) cells

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28 July 2018

De novo mutations in MLL cause Wiedemann-Steiner syndrome

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28 July 2018

Morbidity and mortality in common variable immune deficiency over 4 decades

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28 July 2018

Educational paper: syndromic forms of primary immunodeficiency

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28 July 2018

Genetic syndromic immunodeficiencies with antibody defects

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Syndromic immunodeficiencies: genetic syndromes associated with immune abnormalities

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Lymphocyte subsets in healthy children from birth through 18 years of age: the Pediatric AIDS Clinical Trials Group P1009 study

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28 July 2018

Congenital immunodeficiency in an individual with Wiedemann-Steiner syndrome due to a novel missense mutation in KMT2A.

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21 January 2018

Advanced bone age in a girl with Wiedemann-Steiner syndrome and an exonic deletion in KMT2A (MLL).

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A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis.

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21 January 2018

Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations

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Leukemia proto-oncoprotein MLL is proteolytically processed into 2 fragments with opposite transcriptional properties

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21 January 2018

Is Roifman syndrome an X-linked ciliopathy with humoral immunodeficiency? Evidence from 2 new cases.

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Proteolytic cleavage of MLL generates a complex of N- and C-terminal fragments that confers protein stability and subnuclear localization

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21 January 2018

The immunophenotypic fingerprint of patients with primary antibody deficiencies is partially present in their asymptomatic first-degree relatives

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Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome

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A de novo Mutation in KMT2A (MLL) in monozygotic twins with Wiedemann-Steiner syndrome

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Antibody deficiency, growth retardation, spondyloepiphyseal dysplasia and retinal dystrophy: a novel syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/28623346

12 December 2020

based on heuristic

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10.1038/S41598-017-02434-4

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23 March 2020

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23 March 2020

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23 March 2020

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