“Deficiency in ELF4, X-Linked”: a Monogenic Disease Entity Resembling Behçet’s Syndrome and Inflammatory Bowel Disease
AbstractDefining monogenic drivers of autoinflammatory syndromes elucidates mechanisms of disease in patients with these inborn errors of immunity and can facilitate targeted therapeutic interventions. Here, we describe a cohort of patients with a Beh çet’s- and inflammatory bowel disease (IBD)-like disorder termed “deficiency in ELF4, X-linked” (DEX) affecting males with loss-of-function variants in theELF4 transcription factor gene located on the X chromosome. An international cohort of fourteen DEX patients was assessed to identify unifying clinical manifestations and diagnostic criteria as well as collate findin...
Source: Journal of Clinical Immunology - January 17, 2024 Category: Allergy & Immunology Source Type: research
Evaluation of Genetic or Cellular Impairments in Type I IFN Immunity in a Cohort of Young Adults with Critical COVID-19
AbstractSeveral genetic and immunological risk factors for severe COVID-19 have been identified, with monogenic conditions relating to 13 genes of type I interferon (IFN) immunity proposed to explain 4.8% of critical cases. However, previous cohorts have been clinically heterogeneous and were not subjected to thorough genetic and immunological analyses. We therefore aimed to systematically investigate the prevalence of rare genetic variants causing inborn errors of immunity (IEI) and functionally interrogate the type I IFN pathway in young adults that suffered from critical COVID-19 yet lacked comorbidities. We selected an...
Source: Journal of Clinical Immunology - January 17, 2024 Category: Allergy & Immunology Source Type: research
Pediatric Pancytopenia and Monosomy 7: A Case Report of SAMD9L-Associated Disease
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - January 17, 2024 Category: Allergy & Immunology Source Type: research
Novel Pathogenic C5 Gene Variants in a Patient with Neisseria Meningitis and Diffuse Cutaneous HSV-1 Infection
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - January 17, 2024 Category: Allergy & Immunology Source Type: research
Correction to: A Novel Biallelic LCK Variant Resulting in Profound T-Cell Immune Deficiency and Review of the Literature
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - January 16, 2024 Category: Allergy & Immunology Source Type: research
“The Regimental Pediatrician”: Driving in the Wilds
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - January 13, 2024 Category: Allergy & Immunology Source Type: research
Reducing Mortality and Morbidity in Children with Severe Combined Immunodeficiency in Switzerland: the Role of Newborn Screening
In conclusion, the introduction of NBS in Switzerland has led to earlier and often asymptomatic diagnosis of affected children, enabling timely intervention, infection prevention, and prompt treatment. These factors have contributed to higher survival rates in the NBS group. These findi ngs underscore the critical importance of NBS for SCID, offering potential life-saving benefits through early detection and intervention. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - January 2, 2024 Category: Allergy & Immunology Source Type: research
Filaggrin-Associated Atopic Skin, Eye, Airways, and Gut Disease, Modifying the Presentation of X-Linked Reticular Pigmentary Disorder (XLPDR)
ConclusionThis patient had multiple atopic manifestations affecting eye, skin, chest, and gut, complicating the presentation of XLPDR. This highlights that commonFLG polymorphisms should always be considered when assessing genotype –phenotype correlations of other genetic variation in patients with atopic symptoms. Additionally, while the patient exhibited an enhanced IFN signature, he does not have an NK cell defect, suggesting this may not be a constant feature of XLPDR. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - January 2, 2024 Category: Allergy & Immunology Source Type: research
BCL10 Deficiency Presenting as Severe Combined Immunodeficiency Escaping Newborn Screening
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - December 30, 2023 Category: Allergy & Immunology Source Type: research
IL4R α and IL17A Blockade Rescue Autoinflammation in SOCS1 Haploinsufficiency
AbstractBy inhibition of JAK-STAT signaling, SOCS1 acts as a master regulator of the cytokine response across numerous tissue types and cytokine pathways. Haploinsufficiency of SOCS1 has recently emerged as a monogenic immunodysregulatory disease with marked clinical variability. Here, we describe a patient with severe dermatitis, recurrent skin infections, and psoriatic arthritis that harbors a novel heterozygous mutation inSOCS1. The variant, c.202_203delAC, generates a frameshift in SOCS1, p.Thr68fsAla*49, which leads to complete loss of protein expression. Unlike WT SOCS1, Thr68fs SOCS1 fails to inhibit JAK-STAT signal...
Source: Journal of Clinical Immunology - December 29, 2023 Category: Allergy & Immunology Source Type: research
CXCL9 as a Reliable Biomarker for Discriminating Anti –IFN-γ-Autoantibody–Associated Lymphadenopathy that Mimics Lymphoma
In conclusion, CXCL9 IHC emerges as a robust biomarker for differentiating AIGA from nTFHL-AI and other similar conditions. This reliable diagnostic approach holds the potential to avert misdiagnosis of AIGA as lymphoma, providing timely and accurate diagnosis. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - December 28, 2023 Category: Allergy & Immunology Source Type: research
Modulating the PI3K Signalling Pathway in Activated PI3K Delta Syndrome: a Clinical Perspective
AbstractActivated phosphoinositide-3-kinase (PI3K) δ syndrome (APDS) is an inborn error of immunity characterised by immune dysregulation. Since the discovery of genetic mutations resulting in PI3Kδ overactivation, treatment of APDS patients has begun to focus on modulation of the PI3K pathway in addition to supportive therapies. The mTOR inhibito r sirolimus has been used effectively for some clinical manifestations of this condition, however the arrival of specific PI3Kδ inhibitor leniolisib has shown promising early results and may provide a more targeted approach. This review summarizes key aspects of PI3K pathway b...
Source: Journal of Clinical Immunology - December 27, 2023 Category: Allergy & Immunology Source Type: research
Unusual Manifestations of APECED
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - December 27, 2023 Category: Allergy & Immunology Source Type: research
Inherited Human BCL10 Deficiencies
AbstractHuman BCL10 deficiency causes combined immunodeficiency with bone marrow transplantation as its only curative option. To date, there are four homozygous mutations described in the literature that were identified in four unrelated patients. Here, we describe a fifth patient with a novel mutation and summarize what we have learned about BCL10 deficiency. Due to the severity of the disease, accurate knowledge of its clinical and immunological characteristics is instrumental for early diagnosis and adequate clinical management of the patients. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - December 22, 2023 Category: Allergy & Immunology Source Type: research
Clinical and Immunological Features, Genetic Variants, and Outcomes of Patients with CD40 Deficiency
ConclusionsWe provide a comprehensive description of all important aspects of CD40 deficiency. HSCT is a promising curative treatment option for CD40 deficiency. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - December 22, 2023 Category: Allergy & Immunology Source Type: research
