J Clin Immunol. 2024 Sep 23;45(1):14. doi: 10.1007/s10875-024-01804-8. NO ABSTRACT PMID:39312089 | PMC:PMC11420255 | DOI:10.1007/s10875-024-01804-8
J Clin Immunol. 2024 Sep 23;45(1):15. doi: 10.1007/s10875-024-01793-8. ABSTRACT PURPOSE: PI4KA-related disorder is a highly clinically variable condition characterized by neurological (limb spasticity, developmental delay, intellectual disability, seizures, ataxia, nystagmus) and gastrointestinal (inflammatory bowel disease and multiple intestinal atresia) manifestations. Although features consistent with immunodeficiency (autoimmunity/autoinflammation and recurrent infections) have been reported in a subset … Read more
J Clin Immunol. 2024 Sep 21;45(1):13. doi: 10.1007/s10875-024-01805-7. ABSTRACT Natural antibodies (NAbs) occurring in individuals without prior exposure to specific antigens, provide direct first barrier protection against pathogens, and exert immunoregulation thus actively contributing to the maintenance of immune homeostasis, controlling inflammatory processes and preventing autoimmunity. Common variable immunodeficiency (CVID) is a heterogeneous group of … Read more
J Clin Immunol. 2024 Sep 20;45(1):12. doi: 10.1007/s10875-024-01806-6. ABSTRACT BACKGROUND: Hemophagocytic Lymphohistiocytosis (HLH) carries a high mortality rate. Current existing risk-evaluation methodologies fall short and improved predictive methods are needed. This study aimed to forecast 30-day mortality in adult HLH patients using 11 distinct machine learning (ML) algorithms. METHODS: A retrospective analysis on 431 adult … Read more
J Clin Immunol. 2024 Sep 19;45(1):11. doi: 10.1007/s10875-024-01801-x. NO ABSTRACT PMID:39297999 | PMC:PMC11413082 | DOI:10.1007/s10875-024-01801-x
J Clin Immunol. 2024 Sep 18;45(1):10. doi: 10.1007/s10875-024-01803-9. ABSTRACT PURPOSE: Lipopolysaccharide-responsive beige-like anchor protein (LRBA) encodes a widely expressed cytosolic protein that participates in polarized vesicle trafficking. Homozygous loss-of-function LRBA mutations can lead to immune deficiency due to the lack of immune regulation, classified as a part of Tregopathies. We present a case of a … Read more
J Clin Immunol. 2024 Sep 16;45(1):9. doi: 10.1007/s10875-024-01791-w. ABSTRACT PURPOSE: Immunodysregulation, Polyendocrinopathy, Enteropathy, and X-linked syndrome (IPEX), caused by pathogenic FOXP3 variants, is a rare autoimmune disorder with diverse clinical features, including early-onset diabetes, eczema, and enteropathy. Atypical cases show milder symptoms and unique signs, requiring different treatments. Therefore, there are ambiguities in the accurate … Read more
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
