Intrafamily and interfamilial phenotype variation and immature immunity in patients with netherton syndrome and finnish SPINK5 founder mutation

JAMA Dermatology

Volumn 152, Issue 4, 2016, Pages 435-442

  Hannula Jouppi, Katariina ^a   Laasanen, Satu Leena ^b   Ilander, Mette ^a   Furio, Laetitia ^c,d   Tuomiranta, Mirja ^e   Marttila, Riitta ^e   Jeskanen, Leila ^a   Häyry, Valtteri ^a   Kanerva, Mervi ^a   Kivirikko, Sirpa ^a   Tuomi, Marja Leena ^b   Heikkilä, Hannele ^a   Mustjoki, Satu ^a   Hovnanian, Alain ^c,d,f   Ranki, Annamari ^a  

^a UNIVERSITY OF HELSINKI   (Finland)

^b TAMPERE UNIVERSITY HOSPITAL   (Finland)

^c INSERM   (France)

^d IMAGINE INSTITUTE   (France)

^e SEINÄJOKI CENTRAL HOSPITAL   (Finland)

^f HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; IMMUNOGLOBULIN; IMMUNOGLOBULIN G4; IMMUNOGLOBULIN G; LEUKOCYTE ELASTASE INHIBITOR; SPINK5 PROTEIN, HUMAN;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DEGRANULATION; FAMILY; FEMALE; FINLAND; FINN (CITIZEN); FOUNDER EFFECT; GENE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; HETEROZYGOTE; HISTOPATHOLOGY; HOMOZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNE DEFICIENCY; IMMUNOGLOBULIN BLOOD LEVEL; IMMUNOHISTOCHEMISTRY; INFANT; LEKTI GENE; LYMPHOCYTE; MALE; MEMORY CELL; MIDDLE AGED; NATURAL KILLER CELL; NETHERTON DISEASE; PHENOTYPIC VARIATION; PRIORITY JOURNAL; RNA SPLICING; SPINK5 GENE; B LYMPHOCYTE; BLOOD; FAMILY HEALTH; FOLLOW UP; GENETICS; IMMUNOLOGY; MUTATION; PATHOPHYSIOLOGY; PHENOTYPE; PRESCHOOL CHILD;

B-LYMPHOCYTES; CHILD; CHILD, PRESCHOOL; FAMILY HEALTH; FEMALE; FINLAND; FOLLOW-UP STUDIES; HUMANS; IMMUNOGLOBULIN G; INFANT; KILLER CELLS, NATURAL; MALE; MUTATION; NETHERTON SYNDROME; PHENOTYPE; PROTEINASE INHIBITORY PROTEINS, SECRETORY;

EID: 84963777155     PISSN: 21686068     EISSN: None     Source Type: Journal    
DOI: 10.1001/jamadermatol.2015.5827     Document Type: Article

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