Results 221 to 230 of about 8,524 (262)

Exploring the strengths and limitations of AI-driven variant prioritization versus manual curation in inborn errors of immunity. [PDF]

Front Genet
Moushib LI, Moreno-Ruiz N, Martín-Nalda A, Rivière JG, Urban B, Dieli-Crimi R, Perurena-Prieto J, Aguiló-Cucurull A, Pérez-Estévez E, Solanich X, Soler-Palacín P, Colobran R, Batlle-Masó L.   +12 more
europepmc   +1 more source

RASGRP1 Deficiency Manifesting as Severe Vasculopathy and Fatal Autoimmune Hemolytic Anemia

eJHaem, Volume 7, Issue 3, June 2026.
ABSTRACT Background RASGRP1 deficiency is a rare inborn error of immunity characterized by immunodeficiency, autoimmunity, and lymphoproliferation. Results We report a 5‐year‐old male with novel homozygous splice‐donor mutations in RASGRP1(c.1720+1G>A and c.1720+2T>C) who presented with severe vasculopathy (ischemic stroke and thrombosis), secondary ...
Kosar Asna Ashari, Bahareh Yaghmaie, Neda Pak, Mohammad Shahrooei, Vahid Ziaee, Nima Parvaneh   +5 more
wiley   +1 more source

Allergic manifestations in inborn errors of immunity: a systematic scoping review. [PDF]

Front Immunol
Marbet L, Gujer E, Münger MH, Killian MP, Mauracher AA, Soomann M, Trück J, Pachlopnik Schmid J.   +7 more
europepmc   +1 more source

Syndromic Inborn Errors of Immunity in TREC-Newborn Screening: 5-year Experience from the German Screening Program. [PDF]

J Clin Immunol
Graafen L, Speckmann C, Bakhtiar S, Bernuth HV, Lehmberg K, Bader P, Baumann U, Beier R, Borte S, Brockow I, Davies EG, Hartmann M, Holzer U, Klemann C, Kreins AY, Krüger R, Kontny U, Laws HJ, Meinhardt A, Morbach H, Naumann-Bartsch N, Rothoeft T, Schneider DT, Willasch A, Worth A, Seidel MG, Albert MH, Ehl S, Hauck F, Hönig M, Schulz A, Schuetz C, Ghosh S.   +32 more
europepmc   +1 more source

Atopic dermatitis in inborn errors of immunity: at the interface of immunodeficiency and immune dysregulation. [PDF]

Immunol Res
Szczawińska-Popłonyk A.
europepmc   +1 more source

Four doses of coronavirus disease 2019 vaccination for patients with inborn errors of immunity compared to 3 doses for healthy individuals. [PDF]

J Allergy Clin Immunol Glob
Chan JCH, Cheng SMS, Leung D, Wang X, Wang M, Cheuk YC, Ho C, Tsang LCH, Kwan TC, Lee AMT, Li WY, Lam JHY, Zhang K, Tam IYS, Chan SM, Chan KW, Peiris M, Tu W, Lau YL, Rosa Duque JS.   +19 more
europepmc   +1 more source

The prevalence of allergic manifestations in inborn errors of immunity: a retrospective cohort study. [PDF]

BMC Immunol
Esmaeilzadeh H, Esmaeilbeig M, Askarisarvestani A, Alyasin S, Nabavizadeh SH.   +4 more
europepmc   +1 more source

Malignancy and Autoimmune Susceptibility in Adult Patients with Human Inborn Errors of Immunity. [PDF]

J Clin Immunol
Segura-Tudela A, Nieto-López C, Bermejo-Olivera FJ, Andara LA, Arroyo-Ródenas J, Dueñas-Prieto L, Alfocea-Molina Á, Paz-Artal E, Pleguezuelo D, Cabrera-Marante O, Allende LM.   +10 more
europepmc   +1 more source

Plenary Abstracts Session & Oral Presentations

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source