JAKi Salvage Therapy Followed by Curative Cord Blood Transplantation in a XIAP-Deficient Infant with Relapsing HLH
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - May 20, 2023 Category: Allergy & Immunology Source Type: research
Inborn Errors of Immunity in Hidradenitis Suppurativa Pathogenesis and Disease Burden
AbstractHidradenitis suppurativa (HS), also known as Verneuil ’s disease and acne inversa, is a prevalent, debilitating, and understudied inflammatory skin disease. It is marked by repeated bouts of pathological inflammation causing pain, hyperplasia, aberrant healing, and fibrosis. HS is difficult to manage and has many unmet medical needs. There is clinica l and pharmacological evidence for extensive etiological heterogeneity with HS, suggesting that this clinical diagnosis is capturing a spectrum of disease entities. Human genetic studies provide robust insight into disease pathogenesis. They also can be used to resol...
Source: Journal of Clinical Immunology - May 19, 2023 Category: Allergy & Immunology Source Type: research
Clinical Features and Genetic Analysis of Taiwanese Primary Immunodeficiency Patients with Prolonged Diarrhea and Monogenetic Inflammatory Bowel Disease
ConclusionWhen compared to those with the SD phenotype, the mono-IBD patients had significant early-onset and poor responses to empiric antibiotics, IVIG, and steroids. Anti-inflammatory biologics and suitable HSCT still have the potential to control or even cure the mono-IBD phenotype. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - May 19, 2023 Category: Allergy & Immunology Source Type: research
Prolonged Remission of Azole-Resistant Lung Aspergillosis with Olorofim, in an Adolescent with X-Linked Chronic Granulomatous Disease
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - May 18, 2023 Category: Allergy & Immunology Source Type: research
A New Patient with p40phox Deficiency and Chronic Immune Thrombocytopenia
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - May 18, 2023 Category: Allergy & Immunology Source Type: research
Gain-of-function of MEFV Mutation Causes Very Early Onset Inflammatory Bowel Disease
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - May 17, 2023 Category: Allergy & Immunology Source Type: research
Novel NFKB2 Pathogenic Variants in Two Unrelated Patients with Common Variable Immunodeficiency
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - May 16, 2023 Category: Allergy & Immunology Source Type: research
STAT1 Gain-of-Function Leading to Clinical Beh çet’s Syndrome
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - May 16, 2023 Category: Allergy & Immunology Source Type: research
The Impact of the Russian Invasion on Healthcare of Patient with Inborn Errors of Immunity and on the Professional Activity of Immunologists in Ukraine
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - May 15, 2023 Category: Allergy & Immunology Source Type: research
Whole Exome Sequencing Reveals Pathogenic Variants in ADA2 and FAS Causing DADA2 and ALPS
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - May 13, 2023 Category: Allergy & Immunology Source Type: research
Impaired Response to Polysaccharide Vaccine in Selective IgE Deficiency
ConclusionPatients with sIgED are more likely to have abnormal antibody responses to a T cell –independent antigen and may have dysregulated CSR machinery. Following individuals with sIgED longitudinally may be beneficial in the early identification of PAD. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - May 12, 2023 Category: Allergy & Immunology Source Type: research
JAK Inhibition in Aicardi-Gouti ères Syndrome: a Monocentric Multidisciplinary Real-World Approach Study
AbstractThe paradigm type I interferonopathy Aicardi-Gouti ères syndrome (AGS) is most typically characterized by severe neurological involvement. AGS is considered an immune-mediated disease, poorly responsive to conventional immunosuppression. Premised on a chronic enhancement of type I interferon signaling, JAK1/2 inhibition has been trialed in AGS, wit h clear improvements in cutaneous and systemic disease manifestations. Contrastingly, treatment efficacy at the level of the neurological system has been less conclusive. Here, we report our real-word approach study of JAK1/2 inhibition in 11 patients with AGS, providin...
Source: Journal of Clinical Immunology - May 12, 2023 Category: Allergy & Immunology Source Type: research
Predominant Antibody Deficiency and Risk of Microscopic Colitis: a Nationwide Case –Control Study in Sweden
ConclusionIn this population-based study, predominant antibody deficiency was associated with increased risk of MC, particularly among males. Clinicians who encounter these patients should consider a detailed infectious history and screening for antibody deficiency. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - May 10, 2023 Category: Allergy & Immunology Source Type: research
Subcutaneous Immunoglobulin 16.5% (Cutaquig ®) in Primary Immunodeficiency Disease: Safety, Tolerability, Efficacy, and Patient Experience with Enhanced Infusion Regimens
ConclusionsSCIG 16.5% (Cutaquig ®), infusions are efficacious, safe, and well tolerated with reduced infusion time, fewer infusion sites, and reduced frequency. Further, the majority of patients found the new infusion regimens to be better or somewhat better than their previous regimens. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - May 9, 2023 Category: Allergy & Immunology Source Type: research
Insights into the expanding intestinal phenotypic spectrum of SOCS1 haploinsufficiency and therapeutic options
ConclusionSOCS1 haploinsufficiency can result in a broad spectrum of intestinal manifestations and need to be considered as differential diagnosis in cases of severe treatment-refractory enteropathies, including the rare condition of lymphocytic leiomyositis. This provides the rationale for genetic screening and considering JAK inhibitors in such cases. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - May 9, 2023 Category: Allergy & Immunology Source Type: research
