A child with hyper-IgM syndrome and multiple endocrinopathies with mutations in signal transducer and activator 5B (STAT5B), phosphatidylinositol 3-kinase catalytic subunit delta (PIK3CD) and phosphatidylinositol 3-kinase regulatory subunit 1 (PIK3R1)

Results This patient with hypogammaglobulinemia, short stature requiring growth hormone replacement, hypothyroidism, polycystic ovarian syndrome, chronic sinusitis, bronchiectasis, and multiple episodes of pneumonia was placed on IVIG at 9 years age.

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Bibliographic Details
Published in:Journal of allergy and clinical immunology 2017-02, Vol.139 (2), p.AB172-AB172
Main Authors: Curtiss, Miranda L., MD, PhD, Descartes, Maria, Korf, Bruce R, Atkinson, T. Prescott, MD, PhD, FAAAAI
Format: Article
Language:English
Subjects:
Allergy and Immunology
Genomics
Growth hormones
Kinases
Laboratories
Mutation
Phosphorylation
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Description
Summary:Results This patient with hypogammaglobulinemia, short stature requiring growth hormone replacement, hypothyroidism, polycystic ovarian syndrome, chronic sinusitis, bronchiectasis, and multiple episodes of pneumonia was placed on IVIG at 9 years age.
ISSN:0091-6749
1097-6825
DOI:10.1016/j.jaci.2016.12.564