Literature DB >> 10484640

The 78C --> T (T254M) XHIM mutation: lack of a tight phenotype-genotype relationship.

E de Vries, J G Noordzij, E G Davies, N Hartwig, M H Breuning, J J van Dongen, M J van Tol.   

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Year:  1999        PMID： 10484640

Source DB:  PubMed          Journal:  Blood        ISSN： 0006-4971            Impact factor:   22.113


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  5 in total

1.  XLA patients with BTK splice-site mutations produce low levels of wild-type BTK transcripts.

Authors:  Jeroen G Noordzij; Sandra de Bruin-Versteeg; Nico G Hartwig; Corry M R Weemaes; Egbert J A Gerritsen; Eva Bernatowska; Stefaan van Lierde; Ronald de Groot; Jacques J M van Dongen
Journal:  J Clin Immunol       Date:  2002-09       Impact factor: 8.317

2.  The effect of mutatio-type on proteo-phenotype and clinico-phenotype in selected primary immunodeficiencies.

Authors:  Sevil Oskay Halacli
Journal:  Immunol Res       Date:  2021-10-07       Impact factor: 2.829

3.  Variants Disrupting CD40L Transmembrane Domain and Atypical X-Linked Hyper-IgM Syndrome: A Case Report With Leishmaniasis and Review of the Literature.

Authors:  Boaz Palterer; Lorenzo Salvati; Manuela Capone; Valentina Mecheri; Laura Maggi; Alessio Mazzoni; Lorenzo Cosmi; Nila Volpi; Lucia Tiberi; Aldesia Provenzano; Sabrina Giglio; Paola Parronchi; Giandomenico Maggiore; Oreste Gallo; Alessandro Bartoloni; Francesco Annunziato; Lorenzo Zammarchi; Francesco Liotta
Journal:  Front Immunol       Date:  2022-04-28       Impact factor: 8.786

4.  Immunological and genetic analysis of 65 patients with a clinical suspicion of X linked hyper-IgM.

Authors:  K C Gilmour; D Walshe; S Heath; G Monaghan; S Loughlin; T Lester; G Norbury; C M Cale
Journal:  Mol Pathol       Date:  2003-10

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

Authors:  Silvia Danielian; Matias Oleastro; Maria Eva Rivas; Claudio Cantisano; Marta Zelazko
Journal:  J Clin Immunol       Date:  2007-03-11       Impact factor: 8.542
  5 in total

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