Roshini S. Abraham

Multiomics dissection of human RAG deficiency reveals distinctive patterns of immune dysregulation but a common inflammatory signature

Mondo: integrating disease terminology across communities

A pleiotropic recurrent dominant <i>ITPR3</i> variant causes a complex multisystemic disease

Evaluation and Management of Deficiency of Adenosine Deaminase 2

Human <i>PIK3R1</i> mutations disrupt lymphocyte differentiation to cause activated PI3Kδ syndrome 2

Intestinal microbiome and metabolome signatures in patients with chronic granulomatous disease

The diagnosis of severe combined immunodeficiency (SCID): The Primary Immune Deficiency Treatment Consortium (PIDTC) 2022 Definitions

The diagnosis of severe combined immunodeficiency: Implementation of the PIDTC 2022 Definitions

Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency

Rubella Virus Infected Macrophages and Neutrophils Define Patterns of Granulomatous Inflammation in Inborn and Acquired Errors of Immunity

Coronavirus disease 2019 in patients with inborn errors of immunity: An international study

PAX1 is essential for development and function of the human thymus

A Systematic Review on Predisposition to Lymphoid (B and T cell) Neoplasias in Patients With Primary Immunodeficiencies and Immune Dysregulatory Disorders (Inborn Errors of Immunity)

Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency

Activating mutations in PIK3CD disrupt the differentiation and function of human and murine CD4+ T cells

Short telomere syndromes cause a primary T cell immunodeficiency

Use of Genetic Testing for Primary Immunodeficiency Patients

Clinical efficacy of gene-modified stem cells in adenosine deaminase–deficient immunodeficiency

Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency

Newborn Screening for Severe Combined Immunodeficiency in 11 Screening Programs in the United States