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Hyper IgM Syndrome: a Report from the USIDNET Registry
Emily A Leven1, Patrick Maffucci1, Hans D Ochs2
1Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Journal of Clinical Immunology
|May 19, 2016
Summary
This study analyzed Hyper IgM Syndrome (HIGM) patient data from the USIDNET Registry, revealing common clinical features and improved survival. Findings indicate reduced gastrointestinal issues compared to prior research on this rare immune deficiency.
Area of Science:
- Immunology
- Genetics
- Rare Diseases
Background:
- Hyper IgM Syndrome (HIGM) is a rare primary immunodeficiency characterized by defective immunoglobulin class switching.
- Understanding the clinical spectrum, genetic basis, and treatment outcomes is crucial for patient management.
Purpose of the Study:
- To characterize the presentation, genetics, phenotypes, and treatment of patients with Hyper IgM Syndrome (HIGM).
- To analyze data from the United States Immunodeficiency Network (USIDNET) patient registry.
Main Methods:
- Data from 145 HIGM patients were collected from the USIDNET Registry (October 1992 - July 2015).
- Analysis included demographics, diagnosis criteria, genetic mutations, clinical features, treatments, and mortality.
- Data encompassed 2072 patient-years, with genetic mutations recorded for 85 subjects.
Main Results:
- Most patients (91%) experienced infections, primarily pulmonary, ear, and sinus infections.
- Non-infectious complications affected 78%, including chronic diarrhea, aphthous ulcers, and neoplasms.
- Mutations in CD40LG were most common (82/85), with 18 subjects having non-X-linked HIGM.
Conclusions:
- The USIDNET Registry provides valuable insights into the clinical features of HIGM.
- Compared to previous data, this study suggests longer survival times and fewer gastrointestinal manifestations in HIGM patients.
