HSCT in a Patient with Cernunnos/XLF Deficiency and Omenn Syndrome
J Clin Immunol. 2024 Sep 12;45(1):5. doi: 10.1007/s10875-024-01765-y. NO ABSTRACT PMID:39264509 | DOI:10.1007/s10875-024-01765-y
Journal of Clinical Immunology
Successful Allogeneic Hematopoietic Cell Transplantation for Patients with IL10RA Deficiency in Japan
J Clin Immunol. 2024 Sep 12;45(1):6. doi: 10.1007/s10875-024-01795-6. ABSTRACT BACKGROUND: IL10RA (IL10 receptor subunit alpha) deficiency is an autosomal recessive disease that causes inflammatory bowel disease during early infancy. Its clinical course is often fatal and the only curative treatment is allogeneic hematopoietic cell transplantation (HCT). In Japan, only case reports are available, and there … Read more
Successful Long-Term Enzyme Replacement Therapy in a Patient with Delayed-Onset ADA Deficiency
J Clin Immunol. 2024 Sep 12;45(1):8. doi: 10.1007/s10875-024-01794-7. NO ABSTRACT PMID:39264481 | PMC:PMC11393103 | DOI:10.1007/s10875-024-01794-7
Hyperferritinemia Screening to Aid Identification and Differentiation of Patients with Hyperinflammatory Disorders
J Clin Immunol. 2024 Sep 12;45(1):4. doi: 10.1007/s10875-024-01797-4. ABSTRACT High ferritin is an important and sensitive biomarker for the various forms of hemophagocytic lymphohistiocytosis (HLH), a diverse and deadly group of cytokine storm syndromes. Early action to prevent immunopathology in HLH often includes empiric immunomodulation, which can complicate etiologic work-up and prevent collection of early/pre-treatment … Read more