Unusual Prominent Pulmonary Involvement in a Homozygous PRF1 Gene Variant in a Female Patient
Published in Journal of Clinical Immunology
Ruxolitinib Controls Lymphoproliferation and Diabetes in a STAT3-GOF Patient
Published in Journal of Clinical Immunology
A Case of Burkholderia Prostatitis in a Patient with Chronic Granulomatous Disease
Published in Journal of Clinical Immunology
Heterozygous TLR3 Mutation in Patients with Hantavirus Encephalitis
...Published in Journal of Clinical Immunology
Puumala hantavirus (PUUV) hemorrhagic fever with renal syndrome (HFRS) is common in Northern Europe; this infection is usually self-limited and severe complications are uncommon. PUUV and other hantaviruses, however, can rarely cause encephalitis. The pathogenesis of these rare and severe events is unknown. In this study, we explored the possibilit...
Spontaneous Gastrointestinal Perforations in STAT3-Deficient Hyper-IgE Syndrome
Published in Journal of Clinical Immunology
Successful Hematopoietic Stem Cell Transplantation in a Patient with Complete IFN-γ Receptor 2 Deficiency: a Case Report...
Published in Journal of Clinical Immunology
Clinical and Immunological Characterization of Combined Immunodeficiency Due to TFRC Mutation in Eight Patients
...Published in Journal of Clinical Immunology
Purpose Combined immunodeficiency (CID), due to mutations in TFRC gene that encodes the transferrin receptors (TfR1), is a rare monogenic disorder. In this study, we further characterize the clinical and immunological phenotypes in a cohort of eight patients. Methods A retrospective review of clinical and immunological features of patients diagnose...
Immune Alterations in a Patient with SARS-CoV-2-Related Acute Respiratory Distress Syndrome
...Published in Journal of Clinical Immunology
We report a longitudinal analysis of the immune response associated with a fatal case of COVID-19 in Europe. This patient exhibited a rapid evolution towards multiorgan failure. SARS-CoV-2 was detected in multiple nasopharyngeal, blood, and pleural samples, despite antiviral and immunomodulator treatment. Clinical evolution in the blood was marked ...
Unraveling the Immune Response in Severe COVID-19
Published in Journal of Clinical Immunology
A Nonsense N –Terminus NFKB2 Mutation Leading to Haploinsufficiency in a Patient with a Predominantly Antibody Deficienc...
...Published in Journal of Clinical Immunology
The noncanonical NF-κB pathway is implicated in diverse biological and immunological processes. Monoallelic C-terminus loss-of-function and gain-of-function mutations of NFKB2 have been recently identified as a cause of immunodeficiency manifesting with common variable immunodeficiency (CVID) or combined immunodeficiency (CID) phenotypes. Herein we...
