J Clin Immunol. 2024 Oct 10;45(1):23. doi: 10.1007/s10875-024-01812-8. ABSTRACT OBJECTIVE: FAS gene defects lead to autoimmune lymphoproliferative syndrome (ALPS), which is often inherited in an autosomal dominant and rarely in an autosomal recessive manner. We report a case of a newborn girl with novel compound heterozygous variants in FAS and reveal the underlying mechanism. METHODS: … Read more

J Clin Immunol. 2024 Oct 7;45(1):22. doi: 10.1007/s10875-024-01817-3. ABSTRACT Granulomatous disease affects up to 20% of patients with Common Variable Immunodeficiency (CVID). Granulomas are comprised of highly activated immune cells, and emerge in response to antigenic triggers. In CVID granulomas however, the underlying pathophysiology is unclear and the specific trigger remains unknown. Granuloma formation in … Read more

J Clin Immunol. 2024 Oct 4;45(1):21. doi: 10.1007/s10875-024-01811-9. ABSTRACT BACKGROUND: ISG15 deficiency is a mixed syndrome of Mendelian susceptibility to mycobacterial infections (MSMD), a rare inherited condition characterized primarily by recurrent infections from low-virulence mycobacteria and monogenic type I interferonopathy. OBJECTIVE: To characterize the laboratory and molecular features of two patients from different families affected … Read more

J Clin Immunol. 2024 Oct 2;45(1):20. doi: 10.1007/s10875-024-01813-7. NO ABSTRACT PMID:39356338 | DOI:10.1007/s10875-024-01813-7

J Clin Immunol. 2024 Sep 30;45(1):19. doi: 10.1007/s10875-024-01808-4. NO ABSTRACT PMID:39348076 | DOI:10.1007/s10875-024-01808-4

J Clin Immunol. 2024 Sep 27;45(1):18. doi: 10.1007/s10875-024-01809-3. ABSTRACT INTRODUCTION: This study investigates the frequency of hospital attendances, emergency care attendances and geographical influences on service interaction in cohorts of patients with primary and secondary antibody deficiency, to inform future service planning and delivery. METHODS: The COVID-19 in Antibody Deficiency (COV-AD) study was a United … Read more

J Clin Immunol. 2024 Sep 25;45(1):16. doi: 10.1007/s10875-024-01807-5. ABSTRACT Immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF), is a rare disease with autosomal recessive inheritance. ICF syndrome. It has been reported that ICF syndrome is caused by mutations in the DNMT3B (ICF1), ZBTB24 (ICF2), CDCA7 (ICF3), and HELLS (ICF4) genes. As a result of literature … Read more

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