A Report of Novel STIM1 Deficiency and 6-Year Follow-Up of Two Previous Cases Associated with Mild Immunological Phenotype

Laura Rice; Claire Stockdale; Ian Berry; Sean O'Riordan; Karen Pysden; Rashida Anwar; Roger Rushambuza; Moira Blyth; Sonal Srikanth; Yousang Gwack; Yasser M El-Sherbiny; Clive Carter; Sinisa Savic

doi:10.1007/s10875-019-00618-3

A Report of Novel STIM1 Deficiency and 6-Year Follow-Up of Two Previous Cases Associated with Mild Immunological Phenotype

J Clin Immunol. 2019 Apr;39(3):249-256. doi: 10.1007/s10875-019-00618-3. Epub 2019 Apr 4.

Authors

Laura Rice¹, Claire Stockdale², Ian Berry³, Sean O'Riordan⁴, Karen Pysden⁵, Rashida Anwar¹, Roger Rushambuza⁶, Moira Blyth³, Sonal Srikanth⁷, Yousang Gwack⁷, Yasser M El-Sherbiny^{8

9

10}, Clive Carter², Sinisa Savic^{11

12}

Affiliations

¹ Leeds Institute of Medical Research at St James's, Wellcome Trust Brenner Building, St James's University Hospital, University of Leeds, Beckett Street, Leeds, UK.
² Department of Clinical Immunology and Allergy, St James's University Hospital, Beckett Street, Leeds, UK.
³ Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, UK.
⁴ Department of Paediatric Immunology, Leeds General Infirmary, Leeds, UK.
⁵ Department of Paediatric Neurology, Leeds General Infirmary, Leeds, UK.
⁶ Department of Radiology, Calderdale and Huddersfield NHS Foundation Trust, Huddersfield, UK.
⁷ Department of Physiology, David Geffen School of Medicine, UCLA, Los Angeles, CA, 90095, USA.
⁸ Department of Biosciences, School of Science and Technology, Nottingham Trent University, Nottingham, UK.
⁹ Clinical Pathology Department, Faculty of Medicine, Mansoura University, Mansoura, Egypt.
¹⁰ National Institute for Health Research-Leeds Biomedical Research Centre and Leeds Institute of Rheumatic and Musculoskeletal Medicine (LIRMM), Wellcome Trust Brenner Building, St James's University Hospital, Beckett Street, Leeds, UK.
¹¹ Department of Clinical Immunology and Allergy, St James's University Hospital, Beckett Street, Leeds, UK. [email protected].
¹² National Institute for Health Research-Leeds Biomedical Research Centre and Leeds Institute of Rheumatic and Musculoskeletal Medicine (LIRMM), Wellcome Trust Brenner Building, St James's University Hospital, Beckett Street, Leeds, UK. [email protected].

PMID: 30949876
DOI: 10.1007/s10875-019-00618-3

No abstract available

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Cells, Cultured
Child, Preschool
Cord Blood Stem Cell Transplantation
Eczema
Humans
Ichthyosis
Immunologic Deficiency Syndromes / diagnosis*
Immunologic Deficiency Syndromes / genetics
Immunologic Deficiency Syndromes / therapy
Infant
Infections
Lymphocytes / physiology*
Male
Neoplasm Proteins / genetics*
Pedigree
Phenotype
Sequence Deletion / genetics*
Stromal Interaction Molecule 1 / genetics*

Substances

Neoplasm Proteins
STIM1 protein, human
Stromal Interaction Molecule 1

Publication types

MeSH terms

Substances

Grants and funding