Unexplained early-onset lacunar stroke and inflammatory skin lesions: Consider ADA2 deficiency

Neurology

Volumn 84, Issue 20, 2015, Pages 2092-2093

  Westendorp, Willeke F ^a   Nederkoorn, Paul J ^a   Aksentijevich, Ivona ^b   Hak, A Elisabeth ^a   Lichtenbelt, Klaske D ^c   Braun, Kees P J ^c  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^c UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE DEAMINASE; ADENOSINE DEAMINASE 2; UNCLASSIFIED DRUG; CECR1 PROTEIN, HUMAN; SIGNAL PEPTIDE;

ABDUCENS NERVE PARALYSIS; ADENOSINE DEAMINASE 2 DEFICIENCY; ADENOSINE DEAMINASE DEFICIENCY; ANEMIA; ATAXIA; ATTENTION DEFICIT DISORDER; AUTISM; CASE REPORT; CEREBROSPINAL FLUID; CEREBROSPINAL FLUID ANALYSIS; CHILD; CHYLOTHORAX; COMPUTER ASSISTED TOMOGRAPHY; DERMATITIS; DIVERGENT STRABISMUS; HEARING IMPAIRMENT; HEMIPARESIS; HUMAN; INFLAMMATORY INFILTRATE; LABYRINTHITIS; LACUNAR STROKE; MAGNETIC RESONANCE ANGIOGRAPHY; MALE; NEUROIMAGING; NOTE; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PHYSICAL EXAMINATION; POLYARTERITIS NODOSA; PREMATURITY; PRIORITY JOURNAL; PTOSIS; SCHOOL CHILD; SEIZURE; SKIN BIOPSY; SKIN DEFECT; SPEECH DISORDER; SPLENOMEGALY; STROKE PATIENT; VERTIGO; VESTIBULAR NEURONITIS; VISUAL FIELD DEFECT; AGE; COMPLICATION; DEFICIENCY; GENETICS; HOMOZYGOTE; MUTATION; STROKE, LACUNAR;

ADENOSINE DEAMINASE; AGE FACTORS; CHILD; DERMATITIS; HOMOZYGOTE; HUMANS; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MUTATION; STROKE, LACUNAR;

EID: 84929629714     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000001581     Document Type: Note

References (2)

1. Zhou Q, Yang D, Ombrello AK, et al. Early-onset stroke and vasculopathy associated with mutations in ADA2. N Engl J Med 2014;370:911-920.
2. Navon EP, Pierce SB, Segel R, et al. Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. N Engl J Med 2014;370:921-931.