Tissue-specific features of innate lymphoid cells in antiviral defense

SJ Piersma - Cellular & Molecular Immunology, 2024 - nature.com
Innate lymphocytes (ILCs) rapidly respond to and protect against invading pathogens and
cancer. ILCs include natural killer (NK) cells, ILC1s, ILC2s, ILC3s, and lymphoid tissue …

Beta actin G342D as a cause of natural killer cell deficiency impairing lytic synapse termination

AE Reed, J Peraza, F van den Haak… - Journal of …, 2024 - pmc.ncbi.nlm.nih.gov
Natural killer (NK) cell deficiency (NKD) occurs when an individual's major clinical
immunodeficiency derives from abnormal NK cells and is associated with several genetic …

[HTML][HTML] Splice site and de novo mutations can cause mixed dominant negative/gain of function PLCG2-associated immune dysregulation with cold urticaria (CU …

SR Chou, AC Bailey, K Baysac, AJ Oler, JD Milner… - medRxiv, 2024 - ncbi.nlm.nih.gov
Background: Phospholipase Cγ2 (PLCγ2) is an important signaling molecule that receives
and transmits signals from various cell surface receptors in most hematopoietic lineages …

Splice site and de novo mutations can cause mixed gain of function/dominant negative PLCG2-associated immune dysregulation with cold urticaria (CU-PLAID)

SR Chou, AC Bailey, KC Baysac, A Oler, JD Milner… - medRxiv, 2024 - medrxiv.org
Background: Phospholipase Cγ2 (PLCγ2) is an important signaling molecule that receives
and transmits signals from various cell surface receptors in most hematopoietic lineages …

Splice site and de novo variants can cause PLCG2-associated immune dysregulation with cold urticaria

SR Chou, AC Bailey, K Baysac, AJ Oler… - Journal of Allergy and …, 2024 - Elsevier
Background Phospholipase Cγ2 (PLCγ2) is an important signaling molecule that receives
and transmits signals from various cell surface receptors in most hematopoietic lineages …

PLCG2 variants in cherubism

JG Chester, B Carcamo, DA Gudis… - Journal of Allergy and …, 2024 - Elsevier
Background Cherubism is most commonly caused by rare heterozygous gain-of-function
(GOF) missense variants in SH3BP2, which appear to signal through phospholipase C …

Spectrum of clinical phenotypes of PLCG2 gene variants: Just PLAID

J Chinen - Journal of Allergy and Clinical Immunology, 2024 - jacionline.org
Clinicians are advised to be cautious of associating a newly found gene variant with a
syndrome that has been previously reported with other pathogenic variants in the same …

[HTML][HTML] ПЕРВИННІ МІНОРНІ ІМУНОДЕФІЦИТИ ЯК ПРИЧИНА РОЗВИТКУ ІМУНОЗАЛЕЖНОЇ ПАТОЛОГІЇ У ЛЮДЕЙ: ЕТІОЛОГІЯ, ЕПІДЕМІОЛОГІЯ …

D Maltsev - Immunology and Allergology: Science and Practice, 2024 - immunology.org.ua
Backgrounds. Primary minor immunodeficiencies (PMD) occur in the human population
more often than classical immunodeficiencies and make a great burden on society …

Modeling of NK Cells in Pediatric Patients With Unusually Severe or Recurrent HSV Using High-Dimensional Flow Cytometry

Y Feng - 2024 - openscholarship.wustl.edu
HSV infection is broadly spread all over the world with some patients having severe and/or
recurrent HSV infections. Our lab studies human Natural Killer (NK) cells, which are …

Human PLCG2 haploinsufficiency results in a novel NK cell immunodeficiency

A Condino-Neto - Journal of Allergy and Clinical Immunology, 2024 - jacionline.org
In this study, Alinger et al. advance our understanding of PLCG2 genetic variants and their
clinical implications (1). PLCG2-associated antibody deficiency and immune dysregulation …