Title
Familial immunodeficiency with cutaneous vasculitis, myoclonus, and cognitive impairment
UMMS Affiliation
Department of Pediatrics
Publication Date
2004-03-26
Document Type
Article
Subjects
Adult; Cognition Disorders; Dermatitis; Diseases in Twins; Female; Genes, Recessive; Humans; Immunologic Deficiency Syndromes; Male; Myoclonus; Pedigree; Siblings; Syndrome; Vasculitis
Disciplines
Genetics and Genomics | Medical Genetics | Pediatrics
Abstract
We report a family with five of six siblings (including identical male twins) with a novel constellation of immunologic and neurologic impairments. Affected subjects experienced severe dermatitis starting around 9 months of age, Stevens-Johnson syndrome in early childhood, and extreme elevations of IgE (9,400-43,000 IU/ml). The oldest sibling died at age 27 of respiratory failure following recurrent, severe pneumonias. All four surviving affected siblings have had chronic sinusitis or otitis, cutaneous vasculitis, and recurrent bacterial pneumonias leading to bronchiectasis. Neurologic features in all five siblings included oral motor deficits, dysarthria, low average IQ (70-80), and essential myoclonus. Four had documented ataxia and/or mild sensory loss with increased patellar but diminished ankle reflexes. The nonconsanguineous parents and one sibling had none of the above findings, consistent with autosomal recessive inheritance. This primary immunodeficiency with distinctive neurological impairments represents a new syndrome. Published 2003 Wiley-Liss, Inc.
DOI of Published Version
10.1002/ajmg.a.20595
Source
Am J Med Genet A. 2004 Mar 1;125A(2):145-51. Link to article on publisher's site
Journal/Book/Conference Title
American journal of medical genetics. Part A
Related Resources
PubMed ID
14981714
Repository Citation
Hay BN, Martin JE, Karp BI, Davis J, Darnell D, Solomon B, Turner M, Holland SM, Puck JM. (2004). Familial immunodeficiency with cutaneous vasculitis, myoclonus, and cognitive impairment. Genetics. https://doi.org/10.1002/ajmg.a.20595. Retrieved from https://escholarship.umassmed.edu/peds_genetics/16