筛选条件 共查询到500条结果
排序方式
Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API)

期刊: JOURNAL OF CLINICAL IMMUNOLOGY, 2023; 43 (5)

BackgroundT-cell receptor excision circle (TREC)-based newborn screening (NBS) for severe combined immunodeficiencies (SCID) was introduced in Germany......

Autosomal Dominant STAT6 Gain of Function Causes Severe Atopy Associated with Lymphoma

期刊: JOURNAL OF CLINICAL IMMUNOLOGY, 2023; 43 (7)

The transcription factor STAT6 (Signal Transducer and Activator of Transcription 6) is a key regulator of Th2 (T-helper 2) mediated allergic inflammat......

Immunologic and Genetic Contributors to CD46-Dependent Immune Dysregulation

期刊: JOURNAL OF CLINICAL IMMUNOLOGY, 2023; ()

Mutations in CD46 predispose to atypical hemolytic uremic syndrome (aHUS) with low penetrance. Factors driving immune-dysregulatory disease in individ......

Inborn Errors of Immunity-the Sri Lankan Experience 2010-2022

期刊: JOURNAL OF CLINICAL IMMUNOLOGY, 2023; ()

PurposeInborn errors of immunity (IEI) are typically monogenic. Data from the Indian subcontinent are relatively scarce. This paper evaluates IEI diag......

COVID-19 Vaccination Responses with Different Vaccine Platforms in Patients with Inborn Errors of Immunity

期刊: JOURNAL OF CLINICAL IMMUNOLOGY, 2023; 43 (2)

Patients with inborn errors of immunity (IEI) in Argentina were encouraged to receive licensed Sputnik, AstraZeneca, Sinopharm, Moderna, and Pfizer va......

Novel Loss of Function (G15D) Mutation on RAC2 in a Family with Combined Immunodeficiency and Increased Levels of Immunoglobulin G, A, and E

期刊: JOURNAL OF CLINICAL IMMUNOLOGY, 2023; 43 (3)

Ras-related C3 botulinum toxin substrate 2 (RAC2) is a small guanine nucleotide binding molecule that is exclusively expressed in hematopoietic cell l......

A Registry Study of 240 Patients with X-Linked Agammaglobulinemia Living in the USA

期刊: JOURNAL OF CLINICAL IMMUNOLOGY, 2023; 43 (6)

PurposeTo understand the natural history and clinical outcomes for patients with X-linked agammaglobulinemia (XLA) in the United States utilizing the ......

New Dominant-Negative IL6ST Variants Expand the Immunological and Clinical Spectrum of GP130-Dependent Hyper-IgE Syndrome

期刊: JOURNAL OF CLINICAL IMMUNOLOGY, 2023; 43 (7)

Patients with autosomal dominant (AD) hyper-IgE syndrome (HIES) suffer from a constellation of manifestations including recurrent bacterial and fungal......

Immunoglobulin Replacement Therapy During COVID-19 Pandemic: Practical and Psychological Impact in Patients with Antibody Deficiency

期刊: JOURNAL OF CLINICAL IMMUNOLOGY, 2023; 43 (7)

PurposeThe COVID-19 pandemic has impacted on how health services deliver care and the mental health of the population. Due to their clinical vulnerabi......

Clinical Validation of a Primary Antibody Deficiency Screening Algorithm for Primary Care

期刊: JOURNAL OF CLINICAL IMMUNOLOGY, 2023; ()

Purpose The diagnostic delay of primary antibody deficiencies (PADs) is associated with increased morbidity, mortality, and healthcare costs. Therefor......

共500条页码: 1/34页15条/页