IMPACT (Immune Monitoring and Phenotype Assessment of Clinical Trajectory) for Patients with Inborn Errors of Immunity from the Primary Immune Deficiency Treatment Consortium (PIDTC).
Evaluating natural history and outcomes of rare inborn errors of immunity (IEIs) has been challenging due to the diverse disease manifestations and lack of standardized data. We developed a set of standardized, quantitative, generalizable data collection modules to measure organ dysfunction in IEIs,…
A Case of Epstein-Barr Virus Associated Smooth Muscle Tumor in the Bronchus of a Child with CARMIL2 Deficiency and a Literature Review.
Background: Epstein-Barr virus associated smooth muscle tumors (EBV-SMTs) have been established as a rare neoplasm closely associated with severe immunodeficiency. CARMIL2 deficiency, described in recent years, is a combined immunodeficiency disorder characterized by CD28-mediated T-cell costimulato…
Concurrent hereditary angioedema type I and common variable immunodeficiency presenting as suspected antibiotic hypersensitivity: Case report and literature discussion.
Hereditary angioedema (HAE) and common variable immunodeficiency (CVID) are rare disorders with heterogeneous clinical presentations that pose significant diagnostic challenges. HAE is characterized by recurrent episodes of subcutaneous or submucosal edema affecting the skin, gastrointestinal tract,…
Modeling and correction of SCID-X1 using CRISPR-Cas9 homology-directed repair in human HSPCs.
X-linked severe combined immunodeficiency (SCID-X1) is a severe primary immunodeficiency caused by mutations in the IL2RG gene, a shared subunit of cytokine receptors critical for the development and function of T and natural killer (NK) cells. The standard treatment, allogeneic hematopoietic stem c…
Retrieval-Augmented Language Models for Clinical Decision Support in the Classification of Inborn Errors of Immunity.
Early diagnosis of inborn errors of immunity (IEIs) can make a difference in patient outcomes and even cut healthcare costs. However, there are some challenges to overcome, such as clinical complexity, low awareness, and limited resources. Generative artificial intelligence has attracted considerabl…
Activated PIK3CD drives marginal zone B cell development from early transitional progenitors by enhancing ADAM10 expression.
Activated PI3K-delta syndrome (APDS) is a human monogenic primary immunodeficiency disorder caused by mutations in the gene encoding the p110δ catalytic subunit of phosphoinositide 3-kinase, PIK3CD. APDS is characterized by complex immune phenotypes, including increased serum IgM, susceptibili…
Pharmacokinetic Model Based Sensitivity Analysis to Lower Recruitment Burden for Young Children Requiring Intravenous Immunoglobulin G Replacement.
To support a post-marketing requirement for pharmacokinetic (PK)-focused assessments in patients ages 2-16 years, a model-informed drug development approach was used to overcome enrollment barriers in recruiting pediatric subjects with primary immune deficiency (PID) disorders under Age 6 in…
[Allergy and Immunology in the 21st Century - from Symptomatic Treatment to Precision Medicine].
This issue of Harefuah is dedicated to the field of Allergy and Immunology (A/I). Many aspects in the field have undergone complete transformation in recent years, and here we highlight "hot topics" at the forefront of the field. These topics are not only relevant to those practicing A/I, but are of…