Atypical Severe Combined Immunodeficiency Caused by a Novel Homozygous Mutation In Rag1 Gene in a Girl who Presented with Pyoderma Gangrenosum: A Case Report and Literature Review

Journal of Clinical Immunology

Volumn 34, Issue 7, 2014, Pages 792-795

  Patiroglu, Turkan ^a   Akar, H Haluk ^a   Gilmour, Kimberly ^b   Ozdemir, M Akif ^a   Bibi, Shahnaz ^c   Henriquez, Frances ^b   Burns, Siobhan O ^d,e   Unal, Ekrem ^a  

^a ERCIYES UNIVERSITY MEDICAL FACULTY   (Turkey)

^b GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^c Great Ormond Street Hospital NHS Trust Level 6   (United Kingdom)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e ROYAL FREE LONDON NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

Atypical severe combined immunodeficiency; pyoderma gangrenosum; RAG1 gene

Indexed keywords

CYCLOSPORIN; HOMEODOMAIN PROTEIN; RAG-1 PROTEIN; STEROID;

ADOLESCENT; B LYMPHOCYTE; BRONCHOPNEUMONIA; CASE REPORT; CHILD; COMPLICATION; CONSANGUINITY; EXON; FEMALE; GENETICS; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HOMOZYGOTE; HUMAN; IMMUNOLOGY; INSECT BITES AND STINGS; MUTATION; NUCLEOTIDE SEQUENCE; ORTHOPEDIC SURGERY; PATHOLOGY; PYODERMA GANGRENOSUM; SEVERE COMBINED IMMUNODEFICIENCY;

ADOLESCENT; B-LYMPHOCYTES; BRONCHOPNEUMONIA; CHILD; CONSANGUINITY; CYCLOSPORINE; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HOMEODOMAIN PROTEINS; HOMOZYGOTE; HUMANS; INSECT BITES AND STINGS; MUTATION; ORTHOPEDIC PROCEDURES; PYODERMA GANGRENOSUM; SEVERE COMBINED IMMUNODEFICIENCY; STEROIDS;

EID: 84930900696     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-014-0077-5     Document Type: Article

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