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Nijmegen breakage syndrome

Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.

Immunodeficiency

Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.

Total: 16

(per page)

PMID (PMCID)
29706645	FEMALE	Young Adult
	Identification of variants in pleiotropic genes causing "isolated" premature ovarian insufficiency: implications for medical practice.
	Tucker EJ, Grover SR, Robevska G, van den Bergen J, Hanna C, Sinclair AH. Eur J Hum Genet. 2018;26(9):1319-1328.
	Recessive function-altering NBN variants typically cause Nijmegen breakage syndrome characterized by microcephaly, cancer predisposition, and immunodeficiency, none of which are evident in the patient.
23761151	MALE
	Atypical strain of Toxoplasma gondii causing fatal reactivation after hematopoietic stem cell transplantion in a patient with an underlying immunological deficiency.
	Stajner T, Vasiljevic Z, Vujic D, Markovic M, Ristic G, Micic D, Pasic S, Ivovic V, Ajzenberg D, Djurkovic-Djakovic O. J Clin Microbiol. 2013;51(8):2686-90.
	We report a case of severe disseminated toxoplasmosis that developed early after allogeneic HSCT for T-cell lymphoblastic leukemia/lymphoma in a 15-year-old Toxoplasma gondii-seropositive boy with Nijmegen breakage syndrome, a rare genetic DNA repair disorder associated with immunodeficiency.
24044622 (3849883)	FEMALE	Child
	Nijmegen breakage syndrome and chronic polyarthritis.
	Pasic S, Cupic M, Jovanovic T, Djukic S, Kavaric M, Lazarevic I. Ital J Pediatr. 2013;39:59.
	We report on pediatric patient with Nijmegen breakage syndrome (NBS), a rare DNA repair disorder characterized by microcephaly, immunodeficiency and predisposition to malignant lymphomas, who developed juvenile idiopathic arthritis (JIA)-like polyarthritis.
19125088	FEMALE
	Successful treatment of hodgkin lymphoma in nijmegen breakage syndrome.
	Jovanovic A, Minic P, Scekic-Guc M, Djuricic S, Cirkovic S, Weemaes C, Pasic S. J Pediatr Hematol Oncol. 2009;31(1):49-52.
	Nijmegen breakage syndrome (NBS) is a rare DNA repair disorder characterized by microcephaly, immunodeficiency, and predisposition to malignancy.
18186968	MALE
	Successful treatment of diffuse large B-cell non-hodgkin lymphoma with modified CHOP (cyclophosphamide/doxorubicin/vincristine/prednisone) chemotherapy and rituximab in a patient with Nijmegen syndrome.
	Dumic M, Radman I, Krnic N, Nola M, Kusec R, Begovic D, Labar B, Rados M. Clin Lymphoma Myeloma. 2007;7(9):590-3.
	Nijmegen breakage syndrome is characterized by microcephaly, growth retardation, abnormal facial appearance, spontaneous chromosomal rearrangements, immunodeficiency, and a high predisposition to cancer development, predominantly lymphoma.
16415040	FEMALE	Middle Aged
	Mild Nijmegen breakage syndrome phenotype due to alternative splicing.
	Varon R, Dutrannoy V, Weikert G, Tanzarella C, Antoccia A, Stockl L, Spadoni E, Kruger LA, di Masi A, Sperling K, Digweed M, Maraschio P. Hum Mol Genet. 2006;15(5):679-89.
	Hypomorphic mutations of the NBS1 gene are responsible for Nijmegen breakage syndrome (NBS), characterized by microcephaly, chromosomal instability, radiosensitivity, immunodeficiency and high cancer predisposition.
16088910	MALE
	A patient with mutations in DNA Ligase IV: clinical features and overlap with Nijmegen breakage syndrome.
	Ben-Omran TI, Cerosaletti K, Concannon P, Weitzman S, Nezarati MM. Am J Med Genet A. 2005;137A(3):283-7.
	The clinical phenotype of Ligase IV syndrome (LIG4 syndrome), an extremely rare autosomal recessive condition caused by mutations in the LIG4 gene, closely resembles that of Nijmegen breakage syndrome (NBS), and is characterized by microcephaly, characteristic facial features, growth retardation, developmental delay, and immunodeficiency.
15339696	FEMALE
	T-cell lymphoblastic leukemia/lymphoma in Nijmegen breakage syndrome.
	Pasic S, Vujic D, Fiorini M, Notarangelo LD. Haematologica. 2004;89(8):ECR27.
	Nijmegen breakage syndrome (NBS) is a rare autosomal-recessive disorder characterized by microcephaly, immunodeficiency and predisposition to cancer, mainly B-cell lymphomas.
15449558	MALE	Child
	[Clinical, cytogenetic and molecular characterization of a new case of Nijmegen breakage syndrome in Chile].
	Marcelain K, Aracena M, Be C, Navarrete CL, Moreno R, Santos M, Pincheira J. Rev Med Chil. 2004;132(2):211-8.
	The Nijmegen Breakage Syndrome (NBS) is a rare autosomal recessive disorder associated with microcephaly, immunodeficiency, chromosome instability and cancer proneness.
12764742	MALE	Child
	Fatal toxicity following radio- and chemotherapy of medulloblastoma in a child with unrecognized Nijmegen breakage syndrome.
	Distel L, Neubauer S, Varon R, Holter W, Grabenbauer G. Med Pediatr Oncol. 2003;41(1):44-8.
	Several hereditary disorders including immunodeficiency (ID) syndromes or repair disorders, Ataxia Telangiectasia (AT), and Nijmegen breakage syndrome (NBS) were associated with an elevated risk for severe treatment related toxicity.
12702161	MALE	Infant, Newborn
	Genetic heterogeneity for a Nijmegen breakage-like syndrome.
	Maraschio P, Spadoni E, Tanzarella C, Antoccia A, Di Masi A, Maghnie M, Varon R, Demuth I, Tiepolo L, Danesino C. Clin Genet. 2003;63(4):283-90.
	Nijmegen breakage syndrome (NBS) is a rare, autosomal-recessive chromosome instability disorder characterized by growth and developmental defects, immunodeficiency, high susceptibility to lymphoid malignancies, hypersensitivity to ionizing radiation and aberrant cell-cycle checkpoint control.
11337742	FEMALE	Child
	Combined immunodeficiency, chromosomal instability, and postnatal growth deficiency in a Japanese girl.
	Yamada M, Matsuura S, Tsukahara M, Ebe K, Ohtsu M, Furuta H, Kobayashi I, Kawamura N, Okano M, Shouji R, Kobayashi K. Am J Med Genet. 2001;100(1):9-12.
	The combination of immunodeficiency, chromosomal instability, and radiation hypersensitivity as seen in the girl is present in both ataxia-telangiectasia and Nijmegen breakage syndrome.
11427422	MALE	Child
	Role of Nijmegen breakage syndrome protein in specific T-lymphocyte activation pathways.
	Garcia-Perez MA, Allende LM, Corell A, Paz-Artal E, Varela P, Lopez-Goyanes A, Garcia-Martin F, Vazquez R, Sotoca A, Arnaiz-Villena A. Clin Diagn Lab Immunol. 2001;8(4):757-61.
	Nijmegen breakage syndrome (NBS) is a genetic disorder characterized by immunodeficiency, microcephaly, and "bird-like" facies.
10742414	MALE	Child
	Nijmegen breakage syndrome-associated T-cell-rich B-cell lymphoma: case report.
	Paulli M, Viglio A, Boveri E, Pitino A, Lucioni M, Franco C, Riboni R, Rosso R, Magrini U, Marseglia GL, Marchi A. Pediatr Dev Pathol. 2000;3(3):264-70.
	first described the Nijmegen breakage syndrome (NBS), a rare autosomal recessive disorder characterized by stunted growth, microcephaly, immunodeficiency, spontaneous chromosome instability, and a peculiar predisposition to cancer development.
1613764	MALE	Child
	Unusual T cell clones in a patient with Nijmegen breakage syndrome.
	Stoppa-Lyonnet D, Girault D, LeDeist F, Aurias A. J Med Genet. 1992;29(2):136-7.
	The rare autosomal recessive Nijmegen breakage syndrome is characterised by severe immunodeficiency, microcephaly associated with mental retardation, and typical chromosomal rearrangements in peripheral T lymphocytes.
2491181	MIXED_SAMPLE	Child
	ATFresno: a phenotype linking ataxia-telangiectasia with the Nijmegen breakage syndrome.
	Curry CJ, O'Lague P, Tsai J, Hutchison HT, Jaspers NG, Wara D, Gatti RA, Hutchinson HT. Am J Hum Genet. 1989;45(2):270-5.
	Complementation was observed with patients in ataxia-telangiectasia complementation groups A, C, and E but not with the cell line from a patient with the Nijmegen breakage syndrome, in which patients have microcephaly, radio-resistant DNA synthesis, chromosome aberrations, and immunodeficiency but lack ataxia and telangiectasia.