Autosomal recessive agammaglobulinemic patient with a novel large deletion in IGHM presenting with mild clinical phenotype

被引：0

作者：

Nain, Ercan ^{[1
,2
]}

Ulgen, Ozge ^{[1
]}

Kiykim, Ayca ^{[1
,2
]}

Aydiner, Elif Karakoc ^{[1
,2
]}

Ozen, Ahmet ^{[1
,2
]}

Baris, Safa ^{[1
,2
]}

机构：

[1] Marmara Univ, Div Pediat Allergy & Immunol, Istanbul, Turkey

[2] Istanbul Jeffrey Modell Ctr Primary Immunodeficie, Istanbul, Turkey

来源：

CLINICAL IMMUNOLOGY | 2020年 / 210卷

关键词：

Agammaglobulinemia; Autosomal recessive; IGHM; Clinical variabilityy; MOLECULAR ANALYSIS; MUTATION; DEFECTS; COHORT; GENE;

D O I：

10.1016/j.clim.2019.108295

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

引用

页数：4

共 12 条

[1] Cohort of Iranian Patients with Congenital Agammaglobulinemia: Mutation Analysis and Novel Gene Defects [J].

Abolhassani, Hassan ;

Vitali, Massimiliano ;

Lougaris, Vassilios ;

Giliani, Silvia ;

Parvaneh, Nima ;

Parvaneh, Leila ;

Mirminachi, Babak ;

Cheraghi, Taher ;

Khazaei, Hosseinali ;

Mahdaviani, Seyed Alireza ;

Kiaei, Fatemeh ;

Tavakolinia, Naiimeh ;

Mohammadi, Javad ;

Negahdari, Babak ;

Rezaei, Nima ;

Hammarstrom, Lennart ;

Plebani, Alessandro ;

Aghamohammadi, Asghar .

EXPERT REVIEW OF CLINICAL IMMUNOLOGY, 2016, 12 (04) :479-486

[2] Primary B Cell Immunodeficiencies: Comparisons and Contrasts [J].

Conley, Mary Ellen ;

Dobbs, A. Kerry ;

Farmer, Dana M. ;

Kilic, Sebnem ;

Paris, Kenneth ;

Grigoriadou, Sofia ;

Coustan-Smith, Elaine ;

Howard, Vanessa ;

Campana, Dario .

ANNUAL REVIEW OF IMMUNOLOGY, 2009, 27 :199-227

[3] Genetic analysis of patients with defects in early B-cell development [J].

Conley, ME ;

Broides, A ;

Hernandez-Trujillo, V ;

Howard, V ;

Kanegane, H ;

Miyawaki, T ;

Shurtleff, SA .

IMMUNOLOGICAL REVIEWS, 2005, 203 :216-234

[4] Molecular analysis of the pre-BCR complex in a large cohort of patients affected by autosomal-recessive agammaglobulinemia [J].

Ferrari, S. ;

Zuntini, R. ;

Lougaris, V. ;

Soresina, A. ;

Sourkova, V. ;

Fiorini, M. ;

Martino, S. ;

Rossi, P. ;

Pietrogrande, M. C. ;

Martire, B. ;

Spadaro, G. ;

Cardinale, F. ;

Cossu, F. ;

Pierani, P. ;

Quinti, I. ;

Rossi, C. ;

Plebani, A. .

GENES AND IMMUNITY, 2007, 8 (04) :325-333

[5] Clinical and molecular analysis of patients with defects in μ heavy chain gene [J].

Granados, EL ;

Porpiglia, AS ;

Hogan, MB ;

Matamoros, N ;

Krasovec, S ;

Pignata, C ;

Smith, CIE ;

Hammarstrom, L ;

Bjorkander, J ;

Belohradsky, BH ;

Casariego, GF ;

Rodriguez, MCG ;

Conley, ME .

JOURNAL OF CLINICAL INVESTIGATION, 2002, 110 (07) :1029-1035

[6] A new case of autosomal recessive agammaglobulinaemia with impaired pre-B cell differentiation due to a large deletion of the IGH locus [J].

Milili, M ;

Antunes, H ;

Blanco-Betancourt, C ;

Nogueiras, A ;

Santos, E ;

Vasconcelos, J ;

Melo, JCE ;

Schiff, C .

EUROPEAN JOURNAL OF PEDIATRICS, 2002, 161 (09) :479-484

[7] Targeted next-generation sequencing: A novel diagnostic tool for primary immunodeficiencies [J].

Nijman, Isaac J. ;

van Montfrans, Joris M. ;

Hoogstraat, Marlous ;

Boes, Marianne L. ;

van de Corput, Lisette ;

Renner, Ellen D. ;

van Zon, Patrick ;

van Lieshout, Stef ;

Elferink, Martin G. ;

van der Burg, Mirjam ;

Vermont, Clementien L. ;

van der Zwaag, Bert ;

Janson, Esther ;

Cuppen, Edwin ;

van Amstel, Johannes K. Ploos ;

van Gijn, Marielle E. .

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2014, 133 (02) :529-+

[8] Autosomal primary immunodeficiencies affecting human bone marrow B-cell differentiation [J].

Schiff, C ;

Lemmers, B ;

Deville, A ;

Fougereau, M ;

Meffre, E .

IMMUNOLOGICAL REVIEWS, 2000, 178 :91-98

[9] Autosomal recessive agammaglobulinemia due to defect in μ heavy chain caused by a novel mutation in the IGHM gene [J].

Silva, P. ;

Justicia, A. ;

Regueiro, A. ;

Farina, S. ;

Couselo, J. M. ;

Loidi, L. .

GENES AND IMMUNITY, 2017, 18 (03) :197-199

[10] Gross deletions involving IGHM, BTK, or Artemis:: A model for genomic lesions mediated by transposable elements [J].

van Zelm, Menno C. ;

Geertsema, Corinne ;

Nieuwenhuis, Nicole ;

de Ridder, Dick ;

Conley, Mary Ellen ;

Schiff, Claudine ;

Tezcan, Ilhan ;

Bernatowska, Ewa ;

Hartwig, Nico G. ;

Sanders, Elisabeth A. M. ;

Litzman, Jiri ;

Kondratenko, Irina ;

van Dongen, Jacques J. M. ;

van der Burg, Mirjarn .

AMERICAN JOURNAL OF HUMAN GENETICS, 2008, 82 (02) :320-332

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