IL-4R α Inhibition for Severe “Eosinophilic Gastroenteritis, Allergy, and Anaphylaxis” Syndrome due to a Gain-of-Function Variant in STAT6
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - December 22, 2023 Category: Allergy & Immunology Source Type: research
Inborn Errors of Immunity in Hidradenitis Suppurativa: a New Lead for HS Genetics?
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - December 22, 2023 Category: Allergy & Immunology Source Type: research
The Journal of Clinical Immunology, “Moving On Up”: Its Impact on the Field of Inborn Errors of Immunity
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - December 22, 2023 Category: Allergy & Immunology Source Type: research
Letermovir for CMV Prophylaxis in Very High-Risk Pediatric Hematopoietic Stem Cell Transplantation Recipients for Inborn Errors of Immunity
We report a monocentric real-life use of LMV in 36 HSCT pediatric recipients with IEIs considered at high-risk of CMV infection including 14 patients between 2 and 12 months of age. A homogenous dosage proportional to the body surface area was used. Pharmacokinetic (PK) was performed in 8 patients with a median of 6 years of age (range 0,6;15). The cumulative incidence of clinically significant CMV infections (CS-CMVi) and the overall survival of patients under LMV were compared to a very similar historical cohort under (val)aciclovir prophylaxis. LMV tolerance was good. As compared to the historical cohort, the incidence ...
Source: Journal of Clinical Immunology - December 20, 2023 Category: Allergy & Immunology Source Type: research
Ruxolitinib Rescues Multiorgan Clinical Autoimmunity in Patients with APS-1
AbstractAutoimmune polyendocrine syndrome type-1 (APS-1) is caused by mono- or biallelic loss-of-function variants of the autoimmune regulator geneAIRE underlying early-onset multiorgan autoimmunity and the production of neutralizing autoantibodies against cytokines, accounting for mucosal candidiasis and viral diseases. Medical intervention is essential to prevent or attenuate autoimmune manifestations. Ruxolitinib is a JAK inhibitor approved for use in several autoimmune conditions. It is also used off-label to treat autoimmune manifestations of a growing range of inborn errors of immunity. We treated three APS-1 patient...
Source: Journal of Clinical Immunology - December 19, 2023 Category: Allergy & Immunology Source Type: research
Combined Immunodeficiency Caused by a Novel Nonsense Mutation in LCK
AbstractMutations affecting T-cell receptor (TCR) signaling typically cause combined immunodeficiency (CID) due to varying degrees of disturbed T-cell homeostasis and differentiation. Here, we describe two cousins with CID due to a novel nonsense mutation inLCK and investigate the effect of this novel nonsense mutation on TCR signaling, T-cell function, and differentiation.Patients underwent clinical, genetic, and immunological investigations. The effect was addressed in primary cells and LCK-deficient T-cell lines after expression of mutated LCK.ResultsBoth patients primarily presented with infections in early infancy. Th...
Source: Journal of Clinical Immunology - December 19, 2023 Category: Allergy & Immunology Source Type: research
“The Regimental Pediatrician”: “Dog March” with the Ranger Battalion
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - December 19, 2023 Category: Allergy & Immunology Source Type: research
A Novel Biallelic LCK Variant Resulting in Profound T-Cell Immune Deficiency and Review of the Literature
AbstractLymphocyte-specific protein tyrosine kinase (LCK) is an SRC-family kinase critical for initiation and propagation of T-cell antigen receptor (TCR) signaling through phosphorylation of TCR-associated CD3 chains and recruited downstream molecules. Until now, only one case of profound T-cell immune deficiency with complete LCK deficiency [1] caused by a biallelic missense mutation (c.1022T>C, p.L341P) and three cases of incomplete LCK deficiency [2] caused by a biallelic splice site mutation (c.188-2A>G) have been described. Additionally, deregulated LCK expression has been associated with genetically undefined ...
Source: Journal of Clinical Immunology - December 15, 2023 Category: Allergy & Immunology Source Type: research
Human Autosomal Recessive DNA Polymerase Delta 3 Deficiency Presenting as Omenn Syndrome
This study validates autosomal recessive POLD3 deficiency as a novel cause of profound T-cell deficiency and Omenn syndrome. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - December 15, 2023 Category: Allergy & Immunology Source Type: research
Respiratory Comorbidities Associated with Bronchiectasis in Patients with Common Variable Immunodeficiency in the USIDNET Registry
ConclusionThese data suggest that lower and upper respiratory infections, chronic lower airway disease, and interstitial lung diseases are independently associated with bronchiectasis in CVID patients. Further study into predisposing conditions related to the development of bronchiectasis in CVID patients may allow prediction and early intervention strategies to prevent the development of this complication. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - November 7, 2023 Category: Allergy & Immunology Source Type: research
Correction to: Antibody Deficiency in Patients with Biallelic KARS1 Mutations
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - November 3, 2023 Category: Allergy & Immunology Source Type: research
Inborn Errors of Immunity —the Sri Lankan Experience 2010–2022
ConclusionIEI in Sri Lanka are diagnosed mainly in childhood. The low diagnosis rates suggest a need for educating clinicians regarding IEI in adulthood. The high mortality rates associated with some IEI indicate the need of transplant services in the country. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - November 1, 2023 Category: Allergy & Immunology Source Type: research
Rituximab Monotherapy Is Effective as First-Line Treatment for Granulomatous Lymphocytic Interstitial Lung Disease (GLILD) in CVID Patients
In conclusion, first-line monotherapy with Rituximab displayed high efficacy in disease remission in all treated patients, with improvement of symptoms and amelioration of quality of life, as well as restoration of PFTs and lung CT scan findings. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - November 1, 2023 Category: Allergy & Immunology Source Type: research
Enterobacter cloacae, a Rare Cause of Cervical Lymphadenitis in X-Linked Chronic Granulomatous Disease
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - November 1, 2023 Category: Allergy & Immunology Source Type: research
“The Regimental Pediatrician”: the Finnish Child Refugees and the Temporary Children’s Hospital
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - November 1, 2023 Category: Allergy & Immunology Source Type: research
