Hypomorphic interleukin-7 receptor α-chain mutations and T-cell deficiency: a delay in diagnosis

Ann Allergy Asthma Immunol. 2015 Jul;115(1):1-3. doi: 10.1016/j.anai.2015.04.024.

Authors

Jennifer W Leiding¹, Panida Sriaroon², Jean M B Ly², Aleksandra Petrovic³, Deborah L Howard², Michael Shamblott⁴, Hye-Sun Kuehn⁵, Thomas A Fleisher⁵

Affiliations

¹ Division of Allergy, Immunology, and Rheumatology, Department of Pediatrics, University of South Florida, St Petersburg, Florida. Electronic address: jleiding@health.usf.edu.
² Division of Allergy, Immunology, and Rheumatology, Department of Pediatrics, University of South Florida, St Petersburg, Florida.
³ Blood and Bone Marrow Transplant Program, All Children's Hospital, St Petersburg, Florida.
⁴ Children's Research Institute, University of South Florida, St Petersburg, Florida.
⁵ Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, Maryland.

PMID: 26123418
DOI: 10.1016/j.anai.2015.04.024

No abstract available

Publication types

Case Reports
Research Support, N.I.H., Intramural

MeSH terms

Adrenal Cortex Hormones / adverse effects
Asthma / diagnosis
Child
Delayed Diagnosis
Diagnostic Errors*
Failure to Thrive / etiology
Female
Frameshift Mutation*
Heterozygote
Humans
Immunocompromised Host
Lymphopenia / diagnosis
Lymphopenia / genetics*
Otitis Media / etiology
RNA, Messenger / biosynthesis
RNA, Messenger / genetics
Receptors, Interleukin-7 / deficiency
Receptors, Interleukin-7 / genetics*
Recurrence
Respiratory Insufficiency / etiology
Respiratory Tract Infections / etiology
STAT5 Transcription Factor / metabolism
Severe Combined Immunodeficiency / diagnosis
Severe Combined Immunodeficiency / genetics*
Severe Combined Immunodeficiency / immunology
T-Lymphocytes / pathology*

Substances

Adrenal Cortex Hormones
RNA, Messenger
Receptors, Interleukin-7
STAT5 Transcription Factor
interleukin-7 receptor, alpha chain

Grants and funding

Intramural NIH HHS/United States