Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey

Journal of Clinical Immunology

Volumn 36, Issue 3, 2016, Pages 220-234

  Briggs, Tracy A ^a,b   Rice, Gillian I ^a   Adib, Navid ^c   Ades, Lesley ^d,e   Barete, Stephane ^f   Baskar, Kannan ^g   Baudouin, Veronique ^h   Cebeci, Ayse N ⁱ   Clapuyt, Philippe ^j   Coman, David ^c,k   De Somer, Lien ^l   Finezilber, Yael ^m   Frydman, Moshe ^m,n   Guven, Ayla ^i,o   Heritier, Sébastien ^p   Karall, Daniela ^q   Kulkarni, Muralidhar L ^r   Lebon, Pierre ^s   Levitt, David ^c   Le Merrer, Martine ^t   Linglart, Agnes ^p   Livingston, John H ^u   Navarro, Vincent ^f   Okenfuss, Ericka ^v   Puel, Anne ^w   Revencu, Nicole ^j   Scholl Bürgi, Sabine ^q   Vivarelli, Marina ^x   Wouters, Carine ^y   Bader Meunier, Brigitte ^t,w   Crow, Yanick J ^a,w   more..

^a UNIVERSITY OF MANCHESTER   (United Kingdom)

^b ST MARY S HOSPITAL   (United Kingdom)

^c LADY CILENTO CHILDREN S HOSPITAL   (Australia)

^d CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^e UNIVERSITY OF SYDNEY   (Australia)

^f PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^g CREIGHTON UNIVERSITY   (United States)

^h HÔPITAL ROBERT DEBRÉ   (France)

ⁱ GOZTEPE TRAINING AND RESEARCH HOSPITAL   (Turkey)

^j CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

^k GRIFFITH UNIVERSITY   (Australia)

^l UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^m GERTNER INSTITUTE FOR EPIDEMIOLOGY AND HEALTH POLICY RESEARCH   (Israel)

ⁿ TEL AVIV UNIVERSITY   (Israel)

^o AMASYA UNIVERSITY   (Turkey)

^p ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^q INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^r J J M MEDICAL COLLEGE   (India)

^s Institut Cochin   (France)

^t HÔPITAL NECKER ENFANTS MALADES   (France)

^u LEEDS TEACHING HOSPITALS NHS TRUST   (United Kingdom)

^v KAISER PERMANENTE   (United States)

^w IMAGINE INSTITUTE   (France)

^x BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^y UNIVERSITY OF LEUVEN   (Belgium)

more..

Author keywords

ACP5; interferon signature; SPENCD SPENCDI; Spondyloenchondrodysplasia; tartrate resistant acid phosphatase (TRAP); type I interferon

Indexed keywords

ACID PHOSPHATASE TARTRATE RESISTANT ISOENZYME; AUTOANTIBODY; ACP5 PROTEIN, HUMAN; INTERFERON;

ADOLESCENT; ADULT; ARTICLE; AUTOIMMUNE HEMOLYTIC ANEMIA; BONE BOWING; BONE DYSPLASIA; BRAIN CALCIFICATION; BRAIN HEMORRHAGE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; FEMALE; GENE EXPRESSION; GENE MUTATION; GENETIC DISORDER; HUMAN; HYPOTHYROIDISM; IDIOPATHIC THROMBOCYTOPENIC PURPURA; IMMUNOGENETICS; IMMUNOREGULATION; INTRACRANIAL ANEURYSM; JAUNDICE; LEG PAIN; LEUKODYSTROPHY; LUPUS ERYTHEMATOSUS NEPHRITIS; MALE; METAPHYSIS; MOTOR DEVELOPMENT; PETECHIA; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RECURRENT INFECTION; SCHOOL CHILD; SEIZURE; SHORT STATURE; SIBLING; SKIN BRUISING; SPASTICITY; SPONDYLOENCHONDRODYSPLASIA; SYSTEMIC LUPUS ERYTHEMATOSUS; UPREGULATION; YOUNG ADULT; ALLELE; AUTOIMMUNE DISEASE; BIOSYNTHESIS; BONE; BRAIN; CHONDRODYSPLASIA; CLINICAL TRIAL; DEFICIENCY; GENETICS; GENOTYPE; IMMUNOLOGY; INTELLECTUAL IMPAIRMENT; MULTICENTER STUDY; MUTATION; PATHOLOGY; PEDIGREE;

ADOLESCENT; ADULT; ALLELES; AUTOANTIBODIES; AUTOIMMUNE DISEASES; BONE AND BONES; BRAIN; CHILD; CHILD, PRESCHOOL; FEMALE; GENE EXPRESSION; GENOTYPE; HUMANS; INTELLECTUAL DISABILITY; INTERFERON TYPE I; LUPUS ERYTHEMATOSUS, SYSTEMIC; MALE; MUTATION; OSTEOCHONDRODYSPLASIAS; PEDIGREE; PHENOTYPE; PURPURA, THROMBOCYTOPENIC, IDIOPATHIC; TARTRATE-RESISTANT ACID PHOSPHATASE;

EID: 84961180946     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-016-0252-y     Document Type: Article

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