[HTML][HTML] Clinical implications of systematic phenotyping and exome sequencing in patients with primary antibody deficiency

H Abolhassani, A Aghamohammadi, M Fang… - Genetics in …, 2019 - Elsevier
Purpose The etiology of 80% of patients with primary antibody deficiency (PAD), the second
most common type of human immune system disorder after human immunodeficiency virus …

Clinical, immunological, and genetic features in patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) and IPEX-like syndrome

M Jamee, M Zaki-Dizaji, B Lo, H Abolhassani… - The Journal of Allergy …, 2020 - Elsevier
Background Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX)
syndrome is a rare inborn error of immunity caused by mutations in the forkhead box P3 …

Inborn errors of immunity manifesting as atopic disorders

M Vaseghi-Shanjani, KL Smith, RJ Sara… - Journal of Allergy and …, 2021 - Elsevier
Inborn errors of immunity are traditionally best known for enhancing susceptibility to
infections. However, allergic inflammation, among other types of immune dysregulation …

Hemophagocytic lymphohistiocytosis gene variants in multisystem inflammatory syndrome in children

A Vagrecha, M Zhang, S Acharya, S Lozinsky, A Singer… - Biology, 2022 - mdpi.com
Simple Summary Children with a COVID-19 infection are at risk of developing a novel
syndrome called multisystem inflammatory syndrome in children (MIS-C). This disease state …

Hematopoietic stem cell transplantation as treatment for patients with DOCK8 deficiency

SE Aydin, AF Freeman, W Al-Herz, HA Al-Mousa… - The Journal of Allergy …, 2019 - Elsevier
Background Biallelic variations in the dedicator of cytokinesis 8 (DOCK8) gene cause a
combined immunodeficiency with eczema, recurrent bacterial and viral infections, and …

[HTML][HTML] The mechanobiology of NK cells-'Forcing NK to Sense'target cells

DCP Wong, JL Ding - Biochimica et Biophysica Acta (BBA)-Reviews on …, 2023 - Elsevier
Natural killer (NK) cells are innate immune lymphocytes that recognize and kill cancer and
infected cells, which makes them unique 'off-the-shelf'candidates for a new generation of …

Insights into immunity from clinical and basic science studies of DOCK 8 immunodeficiency syndrome

HC Su, H Jing, P Angelus… - Immunological reviews, 2019 - Wiley Online Library
DOCK 8 immunodeficiency syndrome (DIDS) is a progressive combined immunodeficiency
that can be distinguished from other combined immunodeficiencies or …

Genetic susceptibility to fungal infections and links to human ancestry

B Naik, SMQ Ahmed, S Laha, SP Das - Frontiers in genetics, 2021 - frontiersin.org
Over the ages, fungi have associated with different parts of the human body and established
symbiotic associations with their host. They are mostly commensal unless there are certain …

Chronic mucocutaneous candidiasis in autoimmune polyendocrine syndrome type 1

L Humbert, M Cornu, E Proust-Lemoine… - Frontiers in …, 2018 - frontiersin.org
Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is an
autosomal recessive disease caused by mutations in the autoimmune regulator (AIRE) …

Germline CBM-opathies: from immunodeficiency to atopy

HY Lu, CM Biggs, G Blanchard-Rohner… - Journal of Allergy and …, 2019 - Elsevier
Caspase recruitment domain (CARD) protein–B cell CLL/lymphoma 10 (BCL10)–MALT1
paracaspase (MALT1)[CBM] complexes are critical signaling adaptors that facilitate immune …