Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin

Journal of Allergy and Clinical Immunology

Volumn 136, Issue 5, 2015, Pages 1268-1276

  McAleer, Maeve A ^a,b   Pohler, Elizabeth ^c   Smith, Frances J D ^c   Wilson, Neil J ^c   Cole, Christian ^c   Macgowan, Stuart ^c   Koetsier, Jennifer L ^d   Godsel, Lisa M ^d   Harmon, Robert M ^d   Gruber, Robert ^e   Crumrine, Debra ^f,j   Elias, Peter M ^f,j   McDermott, Michael ^b   Butler, Karina ^b   Broderick, Annemarie ^g   Sarig, Ofer ^h,i   Sprecher, Eli ^g,h,i   Green, Kathleen J ^d   McLean, W H Irwin ^c   Irvine, Alan D ^a,b  

^a TRINITY COLLEGE DUBLIN   (Ireland)

^b OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^c UNIVERSITY OF DUNDEE   (United Kingdom)

^d NORTHWESTERN UNIVERSITY   (United States)

^e INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^f SAN FRANCISCO VETERANS AFFAIRS MEDICAL CENTER   (United States)

^g UNIVERSITY COLLEGE DUBLIN   (Ireland)

^h TEL AVIV SOURASKY MEDICAL CENTER   (Israel)

ⁱ TEL AVIV UNIVERSITY   (Israel)

^j UNIVERSITY OF CALIFORNIA   (United States)

more..

Author keywords

atopic dermatitis; atopic sensitization; Atopy; desmoplakin; desmosome; eosinophilic esophagitis; skin barrier

Indexed keywords

ABC TRANSPORTER A12; ADAM METALLOPEPTIDASE DOMAIN 17; ADAM PROTEIN; ANTIBIOTIC AGENT; CORNEODESMOSIN; CORTICOSTEROID; CYTOKERATIN 10; DESMOCOLLIN 1; DESMOCOLLIN 2; DESMOCOLLIN 3; DESMOGLEIN 1; DESMOGLEIN 2; DESMOGLEIN 4; DESMOPLAKIN; ENVOPLAKIN; ETRETIN; FATTY ACID TRANSPORTER 4; GENOMIC DNA; IMMUNOGLOBULIN; IMMUNOGLOBULIN E; PERIPLAKIN; PLAKIN; PLAKOGLOBIN; PLAKOPHILIN 1; PLAKOPHILIN 2; PLAKOPHILIN 3; PLAKOPHILIN 4; RECOMBINANT INTERLEUKIN 1 RECEPTOR BLOCKING AGENT; TACROLIMUS; UNCLASSIFIED DRUG; DSP PROTEIN, HUMAN;

ABDOMINAL PAIN; AMINO ACID SUBSTITUTION; AMINO TERMINAL SEQUENCE; ANTIBIOTIC THERAPY; ARTICLE; BODY HEIGHT; BODY WEIGHT; BRAIN SCINTISCANNING; CASE REPORT; CHILD; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CONGENITAL ICHTHYOSIFORM ERYTHRODERMA; CORTICOSTEROID THERAPY; DERMATITIS; DIARRHEA; DISEASE EXACERBATION; DRUG EFFECT; ECHOCARDIOGRAPHY; ELECTRON MICROSCOPY; ELECTRORETINOGRAPHY; EOSINOPHILIA; ERYTHRODERMA; ESOPHAGUS BIOPSY; EVOKED VISUAL RESPONSE; FAILURE TO THRIVE; FOOD ALLERGY; FOOD AVERSION; GENE FREQUENCY; GENE SEQUENCE; HETEROZYGOSITY; HISTOPATHOLOGY; HOSPITAL ADMISSION; HUMAN; HYPODONTIA; HYPOTRICHOSIS; ICHTHYOSIS; IMMUNOFLUORESCENCE; IMMUNOHISTOCHEMISTRY; KERATITIS; MACROCEPHALY; MALE; METHICILLIN RESISTANT STAPHYLOCOCCUS AUREUS; METHICILLIN SUSCEPTIBLE STAPHYLOCOCCUS AUREUS; MISSENSE MUTATION; MOLECULAR GENETICS; MOLECULAR PATHOLOGY; NAIL DYSTROPHY; NEUROIMAGING; NEUROLOGIC EXAMINATION; NYSTAGMUS; PALMOPLANTAR KERATODERMA; PERCUTANEOUS ENDOSCOPIC GASTROSTOMY; PHOTOPHOBIA; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DOMAIN; PRURITUS; PUSTULOSIS; SEPSIS; SKIN ABRASION; SKIN BIOPSY; STAPHYLOCOCCAL SKIN INFECTION; STAPHYLOCOCCUS INFECTION; VOMITING; WASTING SYNDROME; WEIGHT GAIN; DISEASE COURSE; DNA MUTATIONAL ANALYSIS; GENETICS; HYPERSENSITIVITY; INFANT; NEWBORN; PATHOLOGY; PEDIGREE; PROTEIN TERTIARY STRUCTURE; SKIN;

CHILD; CHILD, PRESCHOOL; DERMATITIS; DESMOGLEIN 1; DESMOPLAKINS; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; HUMANS; HYPERSENSITIVITY; INFANT; INFANT, NEWBORN; MALE; MUTATION, MISSENSE; PEDIGREE; PROTEIN STRUCTURE, TERTIARY; SKIN; WASTING SYNDROME;

EID: 84953862186     PISSN: 00916749     EISSN: 10976825     Source Type: Journal    
DOI: 10.1016/j.jaci.2015.05.002     Document Type: Article

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