Germline HAVCR2/TIM-3 Checkpoint Inhibitor Receptor Deficiency in Recurrent Autoinflammatory Myocarditis
AbstractMyocarditis can be caused by viral infection, drug reaction or general inflammatory condition. To provide understanding on inflammatory myocarditis, we describe clinical, genetic, and immunological properties of a young male patient who suffered from recurrent myocarditis episodes since the age of four years. Electrocardiography, troponin I/T, echocardiography, myocardial magnetic resonance imaging and histological findings were consistent with recurrent myocarditis episodes. Homozygous c.245  A >  G p.Tyr82Cys pathogenic variant in Hepatitis A Virus Cellular Receptor 2 (HAVCR2) gene encoding T cell immunog...
Source: Journal of Clinical Immunology - March 15, 2024 Category: Allergy & Immunology Source Type: research

Inflammatory Proteomic Analysis of 22q11.2 Deletion Syndrome
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - March 15, 2024 Category: Allergy & Immunology Source Type: research

Prevalence of Neutralizing Autoantibodies Against Type I Interferon in a Multicenter Cohort of Severe or Critical COVID-19 Cases in Shanghai
ConclusionThe presence of type I IFN-neutralizing antibodies is a pervasive risk factor for severe/critical COVID-19 in the Chinese population. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - March 10, 2024 Category: Allergy & Immunology Source Type: research

Parental Engagement in Identifying Information Needs After Newborn Screening for Families of Infants with Suspected Athymia
AbstractCongenital athymia is a rare T-lymphocytopaenic condition, which requires early corrective treatment with thymus transplantation (TT). Athymic patients are increasingly identified through newborn screening (NBS) for severe combined immunodeficiency (SCID). Lack of relatable information resources contributes to challenging patient and family journeys during the diagnostic period following abnormal NBS results. Patient and Public Involvement and Engagement (PPIE) activities, including parental involvement in paediatrics, are valuable initiatives to improve clinical communication and parental information strategies. P...
Source: Journal of Clinical Immunology - March 8, 2024 Category: Allergy & Immunology Source Type: research

Pharmacokinetics of Baricitinib in Cerebrospinal Fluid and Plasma in a Patient with SPENCD
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - March 8, 2024 Category: Allergy & Immunology Source Type: research

The Complexity of Being A20: From Biological Functions to Genetic Associations
AbstractA20, encoded byTNFAIP3, is a critical negative regulator of immune activation. A20 is a ubiquitin editing enzyme with multiple domains, each of which mediates or stabilizes a key ubiquitin modification. A20 targets diverse proteins that are involved in pleiotropic immunologic pathways. The complexity of A20-mediated immunomodulation is illustrated by the varied effects of A20 deletion in different cell types and disease models. Clinically, the importance of A20 is highlighted by its extensive associations with human disease. A20 germline variants are associated with a wide range of inflammatory diseases, while soma...
Source: Journal of Clinical Immunology - March 7, 2024 Category: Allergy & Immunology Source Type: research

Involvement of IL-17  A/IL-17 Receptor A with Neutrophil Recruitment and the Severity of Coronary Arteritis in Kawasaki Disease
ConclusionIL-17  A/IL-17RA axis may play a role in mediating aortic neutrophil chemoattraction, thus contributory to the severity of CA in both humans and mice. These findings may help to develop a new therapeutic strategy toward ameliorating KD-related CA. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - March 7, 2024 Category: Allergy & Immunology Source Type: research

To the Editor: Clinical Characteristics of Pediatric Patients with LRBA Deficiency in Mexico
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - March 6, 2024 Category: Allergy & Immunology Source Type: research

Novel Presentation of Major Histocompatibility Complex Class II Deficiency with Hemophagocytic Lymphohistiocytosis
ConclusionPatients with MHC class II deficiency might present with disseminated BCGitis especially if the patient has severe T cell lymphopenia. Additionally, this immune defect might be added to the list of inborn errors of immunity that can be complicated with HLH. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - March 1, 2024 Category: Allergy & Immunology Source Type: research

A Novel Homozygous Six Base Pair Deletion Found in the NFATC2 Gene in a Patient with EBV-Associated Lymphoproliferation
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - March 1, 2024 Category: Allergy & Immunology Source Type: research

Correction to: Clinical and Treatment History of Patients with Partial DiGeorge Syndrome and Autoimmune Cytopenia at Multiple Centers
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - February 29, 2024 Category: Allergy & Immunology Source Type: research

Psychosocial Evaluation of Adults with Primary Immunodeficiency
ConclusionAdults with PID are at risk for depression and experience high levels of loneliness. Social maladjustment and loneliness contribute to anxiety and depression, and loneliness is correlated with impaired social functioning. These findings emphasize the importance of biopsychosocial evaluation of individuals diagnosed with PID. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - February 27, 2024 Category: Allergy & Immunology Source Type: research

Successful Treatment of Refractory EBV-Associated Hemophagocytic Lymphohistiocytosis with Combined Emapalumab and PD-1 Blockade
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - February 24, 2024 Category: Allergy & Immunology Source Type: research

Thymic Atrophy and Immune Dysregulation in Infants with Complex Congenital Heart Disease
AbstractCongenital heart disease (CHD) is the most common birth defect, and up to 50% of infants with CHD require cardiovascular surgery early in life. Current clinical practice often involves thymus resection during cardiac surgery, detrimentally affecting T-cell immunity. However, epidemiological data indicate that CHD patients face an elevated risk for infections and immune-mediated diseases, independent of thymectomy. Hence, we examined whether the cardiac defect impacts thymus function in individuals with CHD. We investigated thymocyte development in 58 infants categorized by CHD complexity. To assess the relationship...
Source: Journal of Clinical Immunology - February 23, 2024 Category: Allergy & Immunology Source Type: research

Neuropathologic Impacts of JAK Inhibitor Treatment in Aicardi-Gouti ères Syndrome
This study showed profound central nervous system (CNS) sequelae despite early initiation of treatment. Our findings highlight the potential necessity for therapeutic options with enhanced CNS bioavailability. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - February 21, 2024 Category: Allergy & Immunology Source Type: research