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.

Combined immunodeficiency

A group of phenotypically heterogeneous genetic disorders characterized by profound deficiencies of T- and B-cell function, which predispose the patients to both infectious and noninfectious complications.

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PMID (PMCID)
20609147	FEMALE	Child
	Chronic noninfectious necrotizing granulomas in a child with Nijmegen breakage syndrome.
	Vogel CA, Stratman EJ, Reck SJ, Lund JJ. Pediatr Dermatol. 2010;27(3):285-9.
	Nijmegen breakage syndrome (NBS) is a chromosomal breakage disorder with characteristic physical features, chromosomal instability, and combined immunodeficiency.