Phenotypic Variability of SOCS1 Haploinsufficiency
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - June 16, 2023 Category: Allergy & Immunology Source Type: research
A Three-Step Screening Procedure for Early Identification of Children at High Risk of Hemophagocytic Lymphohistiocytosis
ConclusionA significant proportion of pediatric HLH patients present at the hospital without having all three symptoms: fever, splenomegaly, and cytopenias. Our three-step screening procedure, utilizing commonly available clinical and laboratory parameters, can effectively identify pediatric patients who may be at high risk for HLH. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - June 16, 2023 Category: Allergy & Immunology Source Type: research
A Multicenter Cohort Study of Immune Dysregulation Disorders Caused by ELF4 Variants in China
In this study, we described 5 more cases presenting mainly with oral ulcer, inflammatory bowel disease-like symptoms, fever of unknown origin, anemia, or systemic lupus erythematosus. Whole exome sequencing identified potential pathogenic ELF4 variants in all cases. The pathogenicity of these variants was confirmed by the detection of ELF4 expression in peripheral blood mononuclear cells from patients and utilizing a simple IFN-b luciferase reporter assay, as previously reported. Our findings significantly contribute to the current understanding of DEX. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - June 16, 2023 Category: Allergy & Immunology Source Type: research
Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API)
ConclusionThe German TREC-NBS represents the largest European SCID screening at this point. The incidence of SCID/leaky SCID/OS in Germany is approximately 1:54,000, very similar to previous observations from North American and European regions and countries where TREC-NBS was implemented. The newly founded API-CID network facilitates tracking and treatment of identified patients. Short-term HSCT outcome was excellent, but NBS and transplant registries will remain essential to evaluate the long-term outcome and to compare results across the rising numbers of TREC-NBS programs across Europe. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - June 16, 2023 Category: Allergy & Immunology Source Type: research
PEGylated Recombinant Adenosine Deaminase Maintains Detoxification and Lymphocyte Counts in Patients with ADA-SCID
ConclusionElapegademase was safe, well tolerated, achieved stable trough plasma ADA activity with weekly dosing, was effective in maintaining metabolic detoxification, and was associated with maintenance or improvements in lymphocyte counts compared with pegademase therapy in patients with ADA-SCID. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - June 16, 2023 Category: Allergy & Immunology Source Type: research
Efficacy of Tixagevimab and Cilgavimab Against SARS-CoV-2 Infections in Patients with Inborn Errors of Immunity
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - June 16, 2023 Category: Allergy & Immunology Source Type: research
Differing Interpretations of RAC2 p.G15D Function
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - June 16, 2023 Category: Allergy & Immunology Source Type: research
STAT1 Gain-of-Function and Hidradenitis Suppurativa Successfully Managed with Baricitinib
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - June 16, 2023 Category: Allergy & Immunology Source Type: research
Correction to: Neutrophil Activation and Immune Thrombosis Profiles Persist in Convalescent COVID ‑19
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - June 16, 2023 Category: Allergy & Immunology Source Type: research
Successful Hematopoietic Cell Transplantation for Infantile Primary Myelofibrosis/VPS45 Deficiency: Case Report and Review of Literature
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - June 16, 2023 Category: Allergy & Immunology Source Type: research
Correction to: Clinical and Laboratory Factors Affecting the Prognosis of Severe Combined Immunodeficiency
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - June 16, 2023 Category: Allergy & Immunology Source Type: research
Autosomal Dominant STAT6 Gain of Function Causes Severe Atopy Associated with Lymphoma
AbstractThe transcription factor STAT6 (Signal Transducer and Activator of Transcription 6) is a key regulator of Th2 (T-helper 2) mediated allergic inflammation via the IL-4 (interleukin-4) JAK (Janus kinase)/STAT signalling pathway. We identified a novel heterozygous germline mutationSTAT6 c.1255G > C, p.D419H leading to overactivity of IL-4 JAK/STAT signalling pathway, in a kindred affected by early-onset atopic dermatitis, food allergy, eosinophilic asthma, anaphylaxis and follicular lymphoma. STAT6 D419H expression and functional activity were compared with wild type STAT6 in transduced H EK293T cells and to ...
Source: Journal of Clinical Immunology - June 14, 2023 Category: Allergy & Immunology Source Type: research
Improved Outcome Following Busulfan-Based Conditioning in Children with Functional Neutrophil Disorders Undergoing Hematopoietic Stem Cell Transplant from HLA-Matched Donors
We report on 26 children transplanted at our institution with CGD and LAD over 24 years. We found a higher incidence of graft failure in patients receiving treosulfan based conditioning for their first transplant. There was no effect of conditioning regimen on overall survival, as all 8 patients that proceeded to a second busulfan-based HSCT were salvaged. We recommend giving p atients with CGD and LAD fully myeloablative conditioning with either a busulfan-based regimen or the combination of treosulfan, fludarabine, and thiotepa. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - June 13, 2023 Category: Allergy & Immunology Source Type: research
Brainstem Infarction in Immunodeficiency Identified as Adenosine Deaminase 2 Deficiency: Case Report
ConclusionWe present the case of a young adult with diagnosis of DADA2 as a cause for recurrent strokes due to vasculitis. This stroke etiology is rare but should be considered as a cause of recurrent stroke of unknown origin in young patients to avoid a disabling disease course by disease-specific treatment options. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - June 12, 2023 Category: Allergy & Immunology Source Type: research
Correction to: IL-27 is Elevated in Acute Lung Injury and Mediates Inflammation
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - June 10, 2023 Category: Allergy & Immunology Source Type: research
