Familial NK cell deficiency associated with impaired IL-2-and IL-15-dependent survival of lymphocytes
…, IM Fleckenstein, A Puel, L Gineau… - The Journal of …, 2006 - journals.aai.org
We previously reported the clinical phenotype of two siblings with a novel inherited developmental
and immunodeficiency syndrome consisting of severe intrauterine growth retardation …
and immunodeficiency syndrome consisting of severe intrauterine growth retardation …
[HTML][HTML] Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency
Natural killer (NK) cells are circulating cytotoxic lymphocytes that exert potent and nonredundant
antiviral activity and antitumoral activity in the mouse; however, their function in host …
antiviral activity and antitumoral activity in the mouse; however, their function in host …
[HTML][HTML] Human RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections
…, A Lim, A Abhyankar, L Gineau… - The Journal of …, 2012 - Am Soc Clin Investig
Epidermodysplasia verruciformis (EV) is a rare genetic disorder characterized by increased
susceptibility to specific human papillomaviruses, the betapapillomaviruses. These EV-HPVs …
susceptibility to specific human papillomaviruses, the betapapillomaviruses. These EV-HPVs …
[HTML][HTML] A novel primary immunodeficiency with specific natural-killer cell deficiency maps to the centromeric region of chromosome 8
…, J Dunne, E Jouanguy, C Fourlinnie, L Gineau… - The American Journal of …, 2006 - cell.com
We describe four children with a novel primary immunodeficiency consisting of specific
natural-killer (NK) cell deficiency and susceptibility to viral diseases. One child developed an …
natural-killer (NK) cell deficiency and susceptibility to viral diseases. One child developed an …
[HTML][HTML] Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency
…, EK Deenick, T Lazarov, L Gineau… - The Journal of …, 2017 - Am Soc Clin Investig
Inborn errors of DNA repair or replication underlie a variety of clinical phenotypes. We studied
5 patients from 4 kindreds, all of whom displayed intrauterine growth retardation, chronic …
5 patients from 4 kindreds, all of whom displayed intrauterine growth retardation, chronic …
Worldwide genetic variation at the 3′ untranslated region of the HLA-G gene: balancing selection influencing genetic diversity
The HLA-G (human leukocyte antigen-G) molecule plays a pivotal role in immune tolerance
by inhibiting different cell subsets involved in both innate and adaptive immunity. Besides its …
by inhibiting different cell subsets involved in both innate and adaptive immunity. Besides its …
Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation
…, C Picard, N Mahlaoui, L Gineau… - The Journal of …, 2008 - rupress.org
Germline mutations may cause human disease by various mechanisms. Missense and
other in-frame mutations may be deleterious because the mutant proteins are not correctly …
other in-frame mutations may be deleterious because the mutant proteins are not correctly …
[HTML][HTML] The genetic diversity within the 1.4 kb HLA-G 5′ upstream regulatory region moderately impacts on cellular microenvironment responses
…, BM Souto, CT Mendes-Junior, EC Castelli, L Gineau… - Scientific reports, 2018 - nature.com
The HLA-G 5’URR extending 1.4 kb from the ATG presents a unique set of regulatory elements
among HLA genes. Several variable sites have been described that coincide with or are …
among HLA genes. Several variable sites have been described that coincide with or are …
Balancing immunity and tolerance: genetic footprint of natural selection in the transcriptional regulatory region of HLA-G
L Gineau, P Luisi, EC Castelli, J Milet, D Courtin… - Genes & …, 2015 - nature.com
Human leukocyte antigen-G (HLA-G) has well-recognized immunosuppressive properties
modulating the activity of many immune system cells, and polymorphisms observed at the HLA…
modulating the activity of many immune system cells, and polymorphisms observed at the HLA…
[HTML][HTML] Placental malaria is associated with higher LILRB2 expression in monocyte subsets and lower anti-malarial igG antibodies during infancy
…, E Gbaguidi, J Milet, G Cottrell, L Gineau… - Frontiers in …, 2022 - frontiersin.org
Background Placental malaria (PM) is associated with a higher susceptibility of infants to
Plasmodium falciparum (Pf) malaria. A hypothesis of immune tolerance has been suggested …
Plasmodium falciparum (Pf) malaria. A hypothesis of immune tolerance has been suggested …