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Annals of the New York Academy of Sciences, ISSN 0077-8923, 11/2011, Volume 1238, Issue 1, pp. 91 - 98
The concept of grouping Mendelian disorders associated with an upregulation of type I interferon is not currently recognized in the medical literature. Here,... 
type I interferon | spondyloenchondrodysplasia | systemic lupus erythematosus | interferonopathy | Aicardi–Goutières syndrome | Systemic lupus erythematosus | Interferonopathy | Type I interferon | Aicardi-Goutières syndrome | Spondyloenchondrodysplasia | SYSTEMIC-LUPUS-ERYTHEMATOSUS | VIRUS INTERFERENCE | MULTIDISCIPLINARY SCIENCES | CONGENITAL INFECTION | EXONUCLEASE TREX1 | PLASMACYTOID DENDRITIC CELLS | GENETIC SUSCEPTIBILITY | AICARDI-GOUTIERES-SYNDROME | FAMILIAL CHILBLAIN LUPUS | Aicardi-Goutieres syndrome | EXPRESSION SIGNATURE | IFN-ALPHA | Immunologic Deficiency Syndromes - therapy | Up-Regulation | Osteochondrodysplasias - immunology | Nervous System Malformations - immunology | Humans | Autoimmune Diseases - immunology | Interferon Type I - immunology | Immunity | Autoimmune Diseases - genetics | Autoimmune Diseases of the Nervous System - immunology | Osteochondrodysplasias - genetics | Complement System Proteins - deficiency | Lupus Erythematosus, Systemic - genetics | Autoimmune Diseases of the Nervous System - genetics | Lupus Erythematosus, Systemic - immunology | Immunologic Deficiency Syndromes - genetics | Interferon Type I - genetics | Interferon Type I - metabolism | Immunologic Deficiency Syndromes - immunology | Nervous System Malformations - genetics | Lupus | Biological response modifiers
Journal Article
Nature Genetics, ISSN 1061-4036, 02/2011, Volume 43, Issue 2, pp. 127 - 131
Journal Article
Nature Genetics, ISSN 1061-4036, 02/2011, Volume 43, Issue 2, pp. 132 - 137
Journal Article
TURKISH JOURNAL OF PEDIATRICS, ISSN 0041-4301, 2011, Volume 53, Issue 4, pp. 464 - 466
Skeletal dysplasias (osteochondrodysplasias) are a group of diseases that must be included in the differential diagnosis of disproportionate short stature.... 
enchondroma | spondyloenchondrodysplasia | PEDIATRICS | skeletal dysplasia
Journal Article
Medicine, ISSN 0025-7974, 12/2018, Volume 97, Issue 50, p. e13644
Journal Article
Journal of Clinical Immunology, ISSN 0271-9142, 4/2016, Volume 36, Issue 3, pp. 220 - 234
Spondyloenchondrodysplasia is a rare immuno-osseous dysplasia caused by biallelic mutations in ACP5. We aimed to provide a survey of the skeletal, neurological... 
type I interferon | Medical Microbiology | Biomedicine | Immunology | tartrate-resistant acid phosphatase (TRAP) | Infectious Diseases | Internal Medicine | ACP5 | interferon signature | SPENCD/SPENCDI | Spondyloenchondrodysplasia | RNASEH2A | CEREBRAL CALCIFICATIONS | PHENOTYPES | IMMUNOLOGY | DEFICIENCY | IMMUNE DYSREGULATION | ENCHONDROMATOSIS | SPONDYLOMETAPHYSEAL DYSPLASIA | AUTOIMMUNITY | EXPRESSION SIGNATURE | IMMUNODEFICIENCY | Bone and Bones - pathology | Osteochondrodysplasias - pathology | Purpura, Thrombocytopenic, Idiopathic - genetics | Intellectual Disability - immunology | Humans | Child, Preschool | Male | Autoantibodies - biosynthesis | Interferon Type I - immunology | Intellectual Disability - genetics | Autoimmune Diseases - genetics | Osteochondrodysplasias - genetics | Purpura, Thrombocytopenic, Idiopathic - immunology | Purpura, Thrombocytopenic, Idiopathic - pathology | Lupus Erythematosus, Systemic - immunology | Adult | Female | Tartrate-Resistant Acid Phosphatase - immunology | Autoimmune Diseases - pathology | Child | Gene Expression | Osteochondrodysplasias - immunology | Autoimmune Diseases - immunology | Intellectual Disability - pathology | Genotype | Phenotype | Pedigree | Lupus Erythematosus, Systemic - genetics | Adolescent | Alleles | Brain - pathology | Interferon Type I - genetics | Bone and Bones - immunology | Mutation | Tartrate-Resistant Acid Phosphatase - deficiency | Tartrate-Resistant Acid Phosphatase - genetics | Brain - immunology | Lupus Erythematosus, Systemic - pathology | Autoimmunity | SPENCDI | Original | SPENCD
Journal Article
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 08/2012, Volume 160C, Issue 3, pp. 154 - 164
Journal Article
Frontiers in Endocrinology, ISSN 1664-2392, 07/2017, Volume 8, p. 157
Journal Article