Interferon-γ Receptor 1 Deficiency Corrected by Umbilical Cord Blood Transplantation
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To the Editor:
Interferon-gamma receptor (IFNGR)–related disorders are rare variants of Mendelian susceptibility to mycobacterial diseases (MSMD). Given interferon (IFN)–gamma’s crucial role in innate immunity against mycobacterium and intracellular microorganisms, affected individuals are characteristically prone to serious infections with not only weakly virulent mycobacteria species but also Salmonella, Listeria, Histoplasma, and various viruses. Death often occurs in childhood in those with complete receptor deficiencies unless definitive treatment is provided [1, 2, 3]. Although treatment with hematopoietic stem cell transplantation (HSCT) has been described and is curative, it is complicated by high rates of delayed or failed engraftment thought to be due to elevated concentrations of IFN-gamma [4, 5, 6, 7]. Umbilical cord blood transplantation and reduced-intensity conditioning regimens additionally increase the risk of graft failure [8, 9]. Here, we describe a pediatric...
Area under the curve
Cluster of differentiation
Hematopoietic stem cell transplantation
Mendelian susceptibility to mycobacterial diseases
Signal transducer and activator of transcription 1
The authors would like to thank the family of our patient for allowing the sharing of his clinical case. We additionally appreciate the assistance of the Clinical Immunology Research Laboratory at the Medical College of Wisconsin, specifically Dr. Jeffrey Woodliff, Dr. John Routes, and Dr. James Verbsky, in performing the diagnostic functional studies that were crucial in characterizing the patient’s defect.
Dr. Michniacki drafted the manuscript. Drs. Vander Lugt, Frame, and Walkovich assisted in reviewing and editing the manuscript.
Compliance with Ethical Standards
Conflict of Interest
The authors declare that they have no conflicts of interest.
All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Declaration of Helsinki and its later amendments or comparable ethical standards.
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