J Clin Immunol. 2024 Sep 12;45(1):1. doi: 10.1007/s10875-024-01799-2. ABSTRACT PURPOSE: Genetic hypomorphic defects in X chromosomal IKBKG coding for the NF-κB essential modulator (NEMO) lead to ectodermal dysplasia and immunodeficiency in males and the skin disorder incontinentia pigmenti (IP) in females, respectively. NF-κB essential modulator (NEMO) Δ-exon 5-autoinflammatory syndrome (NEMO-NDAS) is a systemic autoinflammatory disease … Read more

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

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

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

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