Corry M.R. Weemaes

Radboud University Nijmegen

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Michèl A.A.P. Willemsen

Radboud University Nijmegen

Marcel van Deuren

NIHR Newcastle Biomedical Research Centre

Mirjam van der Burg

Erasmus MC

Baziel G.M. van Engelen

Radboud University Nijmegen

Dominique Smeets

Radboud University Nijmegen

ÁH

Ásgeir Haraldsson

National University Hospital of Iceland

J. A. J. M. Bakkeren

Radboud University Nijmegen

A. Malcolm R. Taylor

University of Birmingham

J.A.P. Hiel

St. Anna Hospital

Nienke J.H. van Os

Radboud University Nijmegen

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Radboud University Nijmegen

204

Radboud University Medical Center

165

University Medical Center

102

National Center on Birth Defects and Developmental Disabilities

Leiden University Medical Center

Leiden University

Erasmus MC

University of Amsterdam

Boston Children's Hospital

University Medical Center Utrecht

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A NEW CHROMOSOMAL INSTABILITY DISORDER: THE NIJMEGEN BREAKAGE SYNDROME

Acta Paediatrica (1981)

Corry M.R. Weemaes T. W. J. Hustinx J. M. J. C. Scheres P.J.J. Van Munster J. A. J. M. Bakkeren

ABSTRACT. Weemaes, C. M. R., Hustinx, T. W. J., Scheres, J. M. J. C, van Minister, P. J. J., Bakkeren, J. A. J. M. and Taalman, R. D. F. M. (Departments of Paediatrics and Human Genetics, University of Nijmegen, Nijmegen, The Netherlands.) Acta Paediatr Scand, 70:557,.–A 10-year-old boy with microcephaly, stunted growth, mental retardation, cafe-au-lait spots and immunodeficiency is described. An older brother of the patient had the same clinical symptoms and a more severe immunodeficiency. Cytogenetic studies in the proband revealed a typical form of chromosome instability with multiple rearrangements of chromosomes 7 and 14. Such abnormalities were also present, though in very low frequencies, in the father and three of the phenotypically normal sibs. The similarity of the symptoms in the two sibs, the close consanguinity of their parents and the results of the cytogenetic studies in the family favour the hypothesis that the disorder is an inherited one. The clinical features and the chromosome aberrations as present in the proband are usually found in chromosomal breakage syndromes, but it was possible to exclude each of the classical chromosomal breakage syndromes on clinical and/or cytogenetic grounds.

Proband

Nijmegen breakage syndrome

Microcephaly

Chromosome instability

10.1111/j.1651-2227.1981.tb05740.x

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Citations (351)

Fine Localization of the Nijmegen Breakage Syndrome Gene to 8q21: Evidence for a Common Founder Haplotype

The American Journal of Human Genetics (1998)

Karen Cerosaletti Ethan M. Lange Heather M. Stringham Corry M.R. Weemaes Dominique Smeets

Nijmegen breakage syndrome

Microcephaly

Linkage Disequilibrium

Genetic linkage

10.1086/301927

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Citations (53)

Nijmegen Breakage Syndrome

Corry M.R. Weemaes Luciana Chessa

Nijmegen Breakage syndrome (NBS) is a rare autosomal recessive condition characterized by microcephaly, typical face, short stature, chromosomal instability, immunodeficiency, X-ray hypersensitivity and predisposition to malignancies (Hiel et al. 2000, Weemaes et al. 1981). It is caused by mutations in the NBS1 gene located in chromosome 8q21 (Varon et al. 1998) and belongs to the group of chromosomal instability/ DNA repair disorders, together with Bloom syndrome (BS), Fanconi anemia (FA), ataxia-telangiectasia (A-T), and ataxia-telangiectasia-like disorder (ATLD).

Nijmegen breakage syndrome

Breakage

10.1007/978-3-211-69500-5_50

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Citations (2)

Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects

European Journal of Human Genetics (2013)

Corry M.R. Weemaes Maarten JD van Tol Jun Wang Monique M. van Ostaijen-ten Dam Marja CJA van Eggermond

DNMT3B

Primary Immunodeficiency

10.1038/ejhg.2013.40

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Citations (126)

Ataxia-telangiectasia: Immunodeficiency and survival

Clinical Immunology (2017)

Nienke J.H. van Os Anne F.M. Jansen Marcel van Deuren Ásgeir Haraldsson Nieke T.M. van Driel

Ataxia-telangiectasia (AT) is a neurodegenerative disorder characterized by ataxia, telangiectasia, and immunodeficiency. An increased risk of malignancies and respiratory diseases dramatically reduce life expectancy. To better counsel families, develop individual follow-up programs, and select patients for therapeutic trials, more knowledge is needed on factors influencing survival. This retrospective cohort study of 61 AT patients shows that classical AT patients had a shorter survival than variant patients (HR 5.9, 95%CI 2.0-17.7), especially once a malignancy was diagnosed (HR 2.5, 95%CI 1.1-5.5, compared to classical AT patients without malignancy). Patients with the hyper IgM phenotype with hypogammaglobulinemia (AT-HIGM) and patients with an IgG2 deficiency showed decreased survival compared to patients with normal IgG (HR 9.2, 95%CI 3.2-26.5) and patients with normal IgG2 levels (HR 7.8, 95%CI 1.7-36.2), respectively. If high risk treatment trials will become available for AT, those patients with factors indicating the poorest prognosis might be considered for inclusion first.

Hypogammaglobulinemia

Primary Immunodeficiency

10.1016/j.clim.2017.01.009

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Citations (82)

Development of Immunoglobulin A in Infancy and Childhood

Scandinavian Journal of Immunology (2003)

Corry M.R. Weemaes Ina S. Klasen J Goertz Marjo Beldhuis-Valkis Ö Ólafsson

Abstract Serum and salivary concentrations of immunoglobulin A1 (IgA1) and IgA2 were studied in 105 Icelandic children aged 0–12 years. Serum concentrations of both IgA1 and IgA2 increased slightly ( P < 0.001) during childhood. The salivary IgA1/IgA2 ratio tended to decrease during the same period; this trend is less apparent when omitting the youngest children. The salivary IgA1 and IgA2 output could be high, even in children with low levels of serum IgA. Only polymeric IgA was found in whole saliva. Interestingly, in serum, most IgA1 and IgA2 were polymeric during infancy. The proportion of polymeric IgA decreased, when the concentration of IgA increased. The polymeric form of IgA might provide the infant with better protection against invading microorganisms by activation of the innate immune mechanisms.

10.1111/j.1365-3083.2003.01344.x

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Citations (78)

Clinical differences in chronic granulomatous disease in patients with cytochrome b-negative or cytochrome b-positive neutrophils

The Journal of Pediatrics (1985)

Ron S. Weening Lesley H. Adriaansz Corry M.R. Weemaes René Lutter Dirk Roos

Chronic Granulomatous Disease

10.1016/s0022-3476(85)80626-0

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Citations (62)

Can human polyclonal immunoglobulin raise the threshold for convulsions in rats?

Seizure (1996)

Baziel G.M. van Engelen Ingeborg van den Beukel Rob A. Voskuyl Corry M.R. Weemaes W.O. Renier

Polyclonal antibodies

Seizure threshold

10.1016/s1059-1311(96)80031-8

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Citations (2)

Immunodeficiency in a child with partial trisomy 6p

Acta Paediatrica (2011)

Ingeborg Y. Bart Corry M.R. Weemaes Anke R Schuitema‐Dijkstra Dominique Smeets Esther de Vries

We present a mentally retarded boy with partial trisomy of the short arm of chromosome 6 as a result of an interstitial tandem duplication of 6p12.2-p21.31 and immunodeficiency. Patients with mental retardation because of a chromosomal disorder or eponymous syndrome often experience recurrent respiratory tract infections as a result of their associated anatomical or neurological abnormalities. However, associated immune defects may also significantly contribute to their susceptibility to infections. Timely recognition and appropriate treatment of their immunodeficiency will greatly improve quality of life in these patients.Immunodeficiency may be the direct cause of recurrent respiratory tract infections in patients with mental retardation because of a chromosomal disorder or eponymous syndrome, even in the face of feeding difficulties and multiple episodes of aspiration, as is illustrated in this boy with partial trisomy 6p.

Trisomy

Partial Trisomy

10.1111/j.1651-2227.2011.02202.x

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Citations (12)

Complement consumption in eggwhite and fish sensitivity

Clinical & Experimental Allergy (1981)

L. Berrens Adrie G. van Ieperen-van Dijk Corry M.R. Weemaes

A case of eggwhite allergy and a case of fish allergy, where complement-fixation by thermostable IgG-class antibody was positive at extremely high antigen dilutions are described. The antibody in eggwhite allergy was of the precipitating variety and the C-fixation phenomenon was not related to the presence or absence of IgE antibody.

Complement fixation test

10.1111/j.1365-2222.1981.tb01573.x

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Citations (5)