Name: PubCaseFinder
License: http://creativecommons.org/licenses/by/2.1/jp/
Keywords: PubCaseFinder,PCF,Rare Disease,Phenotype,Gene,Match,Assist

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.

Leukemia

A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes.

Total: 1

(per page)

PMID (PMCID)
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.