title: Hypomorphic interleukin-7 receptor α-chain mutations and T-cell deficiency: a delay in diagnosis.
authors.affiliation: Division of Allergy, Immunology, and Rheumatology, Department of Pediatrics, University of South Florida, St Petersburg, Florida. Electronic address: jleiding@health.usf.edu.
authors.forename: Jennifer W
authors.initials: JW
authors.lastname: Leiding
authors.affiliation: Division of Allergy, Immunology, and Rheumatology, Department of Pediatrics, University of South Florida, St Petersburg, Florida.
authors.forename: Panida
authors.initials: P
authors.lastname: Sriaroon
authors.affiliation: Division of Allergy, Immunology, and Rheumatology, Department of Pediatrics, University of South Florida, St Petersburg, Florida.
authors.forename: Jean M B
authors.initials: JM
authors.lastname: Ly
authors.affiliation: Blood and Bone Marrow Transplant Program, All Children's Hospital, St Petersburg, Florida.
authors.forename: Aleksandra
authors.initials: A
authors.lastname: Petrovic
authors.affiliation: Division of Allergy, Immunology, and Rheumatology, Department of Pediatrics, University of South Florida, St Petersburg, Florida.
authors.forename: Deborah L
authors.initials: DL
authors.lastname: Howard
authors.affiliation: Children's Research Institute, University of South Florida, St Petersburg, Florida.
authors.forename: Michael
authors.initials: M
authors.lastname: Shamblott
authors.affiliation: Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, Maryland.
authors.forename: Hye-Sun
authors.initials: HS
authors.lastname: Kuehn
authors.affiliation: Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, Maryland.
authors.forename: Thomas A
authors.initials: TA
authors.lastname: Fleisher
mesh_terms: D000305:Adrenal Cortex Hormones / Q000009:adverse effects; D001249:Asthma / Q000175:diagnosis; D002648:Child; D057210:Delayed Diagnosis; D003951:Diagnostic Errors; D005183:Failure to Thrive / Q000209:etiology; D005260:Female; D016368:Frameshift Mutation; D006579:Heterozygote; D006801:Humans; D016867:Immunocompromised Host; D008231:Lymphopenia / Q000175:diagnosis / Q000235:genetics*; D010033:Otitis Media / Q000209:etiology; D012333:RNA, Messenger / Q000096:biosynthesis / Q000235:genetics; D020395:Receptors, Interleukin-7 / Q000172:deficiency / Q000235:genetics*; D012008:Recurrence; D012131:Respiratory Insufficiency / Q000209:etiology; D012141:Respiratory Tract Infections / Q000209:etiology; D050799:STAT5 Transcription Factor / Q000378:metabolism; D016511:Severe Combined Immunodeficiency / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology; D013601:T-Lymphocytes / Q000473:pathology*
chemical_list: D000305:Adrenal Cortex Hormones; D012333:RNA, Messenger; D020395:Receptors, Interleukin-7; D050799:STAT5 Transcription Factor; C415350:interleukin-7 receptor, alpha chain