Cutaneous Eruption Associated with Sirolimus in a Child with FAS-Associated Autoimmune Lymphoproliferative Syndrome
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - September 13, 2023 Category: Allergy & Immunology Source Type: research
Correction to: New Dominant ‑Negative IL6ST Variants Expand the Immunological and Clinical Spectrum of GP130‑Dependent Hyper‑IgE Syndrome
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - September 13, 2023 Category: Allergy & Immunology Source Type: research
Hemizygous BTK Gene Variant Causing X-Linked Agammaglobulinemia in Two Siblings
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - September 13, 2023 Category: Allergy & Immunology Source Type: research
A Novel Homozygous Mutation Causing Complete TYK2 Deficiency, with Severe Respiratory Viral Infections, EBV-Driven Lymphoma, and Jamestown Canyon Viral Encephalitis
AbstractAutosomal recessive tyrosine kinase 2 (TYK2) deficiency is characterized by susceptibility to mycobacterial and viral infections. Here, we report a 4-year-old female with severe respiratory viral infections, EBV-driven Burkitt-like lymphoma, and infection with the neurotropic Jamestown Canyon virus. A novel, homozygous c.745C > T (p.R249*) variant was found in TYK2. The deleterious effects of the TYK2 lesion were confirmed by immunoblotting; by evaluating functional responses to IFN-α/β, IL-10, and IL-23; and by assessing its scaffolding effect on the cell surface expression of cytokine receptor subunits...
Source: Journal of Clinical Immunology - September 11, 2023 Category: Allergy & Immunology Source Type: research
Novel IFNGR1 Mutation in a Child with Mycobacterium avium Infection
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - September 8, 2023 Category: Allergy & Immunology Source Type: research
“The Regimental Pediatrician”: the Patients and the Work in the Early Years
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - September 5, 2023 Category: Allergy & Immunology Source Type: research
APECED Rash as the First Manifestation of APECED Syndrome
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - September 4, 2023 Category: Allergy & Immunology Source Type: research
Proteomic Analysis of Pediatric Hemophagocytic Lymphohistiocytosis: a Comparative Study with Healthy Controls, Sepsis, Critical Ill, and Active Epstein-Barr virus Infection to Identify Altered Pathways and Candidate Biomarkers
In this study, we performed a data-independent acquisition mass spectrometry-based plasma proteomic analysis of 33 pediatric patients with HLH compared with four control groups: 39 healthy children, 43 children with sepsis, 39 children hospitalized in the pediatric intensive care unit without confirmed infections, and 21 children with acute Epstein-Barr virus infection. Proteomic comparisons between the HLH group and each of the control groups showed that HLH was characterized by alterations in complement and coagulation cascades, neutrophil extracellular trap formation, and platelet activation pathways. We identified eigh...
Source: Journal of Clinical Immunology - August 31, 2023 Category: Allergy & Immunology Source Type: research
Severe RAS-Associated Lymphoproliferative Disease Case with Increasing αβ Double-Negative T Cells with Atypical Features
AbstractAutoimmune lymphoproliferative syndrome (ALPS) is a disease of lymphocyte homeostasis caused by FAS-mediated apoptotic pathway dysfunction and is characterized by non-malignant lymphoproliferation with an increased number of TCR αβ+CD4−CD8− double-negative T cells (αβDNTs). Conversely, RAS-associated leukoproliferative disease (RALD), which is caused by gain-of-functional somatic variants in KRAS or NRAS, is considered a group of diseases with a similar course. Herein, we present a 7-year-old Japanese female of RALD harboring NRAS variant that aggressively progressed to juvenile myelomonocytic leukemia (JMM...
Source: Journal of Clinical Immunology - August 29, 2023 Category: Allergy & Immunology Source Type: research
Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE Cohort
AbstractHereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE) is a rare and life-threatening condition characterized by recurrent localized edema. We conducted a systematic screening ofSERPING1 defects in a cohort of 207 Czech patients from 85 families with C1-INH-HAE. Our workflow involved a combined strategy of sequencing extended to UTR and deep intronic regions, advanced in silico prediction tools, and mRNA-based functional assays. This approach allowed us to detect a causal variant in all families except one and to identify a total of 56 different variants, including 5 novel variants that are likely to be ...
Source: Journal of Clinical Immunology - August 25, 2023 Category: Allergy & Immunology Source Type: research
Early Diagnosis of Ataxia Telangiectasia Through Newborn Screening for SCID: a Case Report Highlighting the Dilemma of Pre-emptive HSCT
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - August 25, 2023 Category: Allergy & Immunology Source Type: research
Allogeneic HSCT for Symptomatic Female X-linked Chronic Granulomatous Disease Carriers
In conclusion, allogeneic HSCT may cure the phagocyte defect in symptomatic XL-CGD carriers and improve their recurrent and disabling infective and inflam matory symptoms but risks transplant-related complications. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - August 24, 2023 Category: Allergy & Immunology Source Type: research
JAK Inhibition with Baricitinib for Severe CVID-Related Enteropathy: a Case Report
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - August 24, 2023 Category: Allergy & Immunology Source Type: research
Both Humoral and Cellular Immune Responses to SARS-CoV-2 Are Essential to Prevent Infection: a Prospective Study in a Working Vaccinated Population from Southern France
AbstractCOVID-19 vaccines have significantly decreased the number of severe cases of the disease, but the virus circulation remains important, and questions about the need of new vaccination campaigns remain unanswered. The individual ’s protection against SARS-CoV-2 infection is most commonly measured by the level and the neutralizing capacity of antibodies produced against SARS-CoV-2. T cell response is a major contributor in viral infection, and several studies have shown that cellular T cell response is crucial in fighting off SARS-CoV-2 infection. Actually, no threshold of protective immune response against SARS-CoV...
Source: Journal of Clinical Immunology - August 22, 2023 Category: Allergy & Immunology Source Type: research
Molecular Challenges in the Diagnosis of X-Linked Chronic Granulomatous Disease: CNVs, Intronic Variants, Skewed X-Chromosome Inactivation, and Gonosomal Mosaicism
In this study, we describe the analytical processes undertaken in 3 families affected with XL-CGD to illustrate several molecular challenges in the genetic diagnosis of this condition: in family 1, a girl with a heterozygous deletion ofCYBB exon 13 and skewed X-chromosome inactivation (XCI); in family 2, a boy with a hemizygous deletion ofCYBB exon 7, defining its consequences at the mRNA level; and in family 3, 2 boys with the same novel intronic variant inCYBB (c.1151 + 6 T > A). The variant affected the splicing process, although a small fraction of wild-type mRNA was produced. Their mother was a heterozyg...
Source: Journal of Clinical Immunology - August 19, 2023 Category: Allergy & Immunology Source Type: research
