A guide for the diagnosis of rare and undiagnosed disease: beyond the exome

S Marwaha, JW Knowles, EA Ashley - Genome medicine, 2022 - Springer
Rare diseases affect 30 million people in the USA and more than 300–400 million
worldwide, often causing chronic illness, disability, and premature death. Traditional …

Human inborn errors of immunity: an expanding universe

LD Notarangelo, R Bacchetta, JL Casanova… - Science …, 2020 - science.org
Molecular, cellular, and clinical studies of human inborn errors of immunity have
revolutionized our understanding of their pathogenesis, considerably broadened their …

Human inborn errors of immunity: 2019 update on the classification from the International Union of Immunological Societies Expert Committee

SG Tangye, W Al-Herz, A Bousfiha, T Chatila… - Journal of clinical …, 2020 - Springer
We report the updated classification of Inborn Errors of Immunity/Primary
Immunodeficiencies, compiled by the International Union of Immunological Societies Expert …

Regulatory T cells: the many faces of Foxp3

P Georgiev, LM Charbonnier, TA Chatila - Journal of clinical immunology, 2019 - Springer
Regulatory T (Treg) cells expressing the transcription factor forkhead box P3 (Foxp3) play a
requisite role in the maintenance of immunological homeostasis and prevention of …

Cellular and gene signatures of tumor-infiltrating dendritic cells and natural-killer cells predict prognosis of neuroblastoma

O Melaiu, M Chierici, V Lucarini, G Jurman… - Nature …, 2020 - nature.com
Tumor-infiltrating lymphocytes play an essential role in improving clinical outcome of
neuroblastoma (NB) patients, but their relationship with other tumor-infiltrating immune cells …

Treg cells in health and autoimmune diseases: New insights from single cell analysis

C Scheinecker, L Göschl, M Bonelli - Journal of autoimmunity, 2020 - Elsevier
Autoimmune diseases, such as Systemic Lupus Erythematosus (SLE) or Rheumatoid
Arthritis (RA) are characterized by the breakdown of immunological tolerance. Defects of …

[HTML][HTML] A systematic review of monogenic inflammatory bowel disease

R Nambu, N Warner, DJ Mulder, D Kotlarz… - Clinical …, 2022 - Elsevier
Background and aims Advances in genomic technologies have led to increasing reports of
monogenic inflammatory bowel disease (IBD). However, there has not been a detailed …

North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition position paper on the evaluation and management for patients with very early-onset …

JR Kelsen, KE Sullivan, S Rabizadeh… - Journal of pediatric …, 2020 - journals.lww.com
The rate of pediatric inflammatory bowel disease (IBD) has been increasing over the last
decade and this increase has occurred most rapidly in the youngest children diagnosed< 6 …

Primary immune regulatory disorders: a growing universe of immune dysregulation

AY Chan, TR Torgerson - Current opinion in allergy and clinical …, 2020 - journals.lww.com
It is important to recognize the broad clinical manifestations of PIRD as patients may have
symptoms atypical of classical 'immunodeficiency'. Because of their diverse immune …

Human inborn errors of immunity to herpes viruses

E Jouanguy, V Béziat, TH Mogensen… - Current opinion in …, 2020 - Elsevier
Infections with any of the nine human herpes viruses (HHV) can be asymptomatic or life-
threatening. The study of patients with severe diseases caused by HHVs, in the absence of …