Human inborn errors of immunity to infection affecting cells other than leukocytes: from the immune system to the whole organism
Highlights•Cells other than leukocytes can be essential for protective immunity in
humans.•Human inborn errors of immunity to infection can affect non-professional cells …
humans.•Human inborn errors of immunity to infection can affect non-professional cells …
Griscelli syndrome type 2 sine albinism: unraveling differential RAB27A effector engagement
Y Ohishi, S Ammann, V Ziaee, K Strege… - Frontiers in …, 2020 - frontiersin.org
Griscelli syndrome type 2 (GS-2) is an inborn error of immunity characterized by partial
albinism and episodes of hemophagocytic lymphohistiocytosis (HLH). It is caused by …
albinism and episodes of hemophagocytic lymphohistiocytosis (HLH). It is caused by …
Infections in the monogenic autoimmune syndrome APECED
V Oikonomou, TJ Break, SL Gaffen… - Current opinion in …, 2021 - Elsevier
Highlights•The incompletely penetrant association of IL-17/IL-22 AAbs with CMC and
evidence from clinical IL-17 mAbs and genetic IL-10RB deficiency imply these AAbs may not …
evidence from clinical IL-17 mAbs and genetic IL-10RB deficiency imply these AAbs may not …
[HTML][HTML] Life-threatening influenza, hemophagocytic lymphohistiocytosis and probable vaccine-strain varicella in a novel case of homozygous STAT2 deficiency
BJ Freij, AT Hanrath, R Chen, S Hambleton… - Frontiers in …, 2021 - frontiersin.org
STAT2 is a transcription factor that plays an essential role in antiviral immunity by mediating
the activity of type I and III interferons (IFN-I and IFN-III). It also has a recently established …
the activity of type I and III interferons (IFN-I and IFN-III). It also has a recently established …
A novel case of homozygous interferon alpha/beta receptor alpha chain (IFNAR1) deficiency with hemophagocytic lymphohistiocytosis
F Gothe, CF Hatton, L Truong, Z Klimova… - Clinical Infectious …, 2022 - academic.oup.com
We present a case of complete deficiency of the interferon alpha/beta receptor alpha chain
(IFNAR1) in a child with fatal systemic hyperinflammation, apparently provoked by live …
(IFNAR1) in a child with fatal systemic hyperinflammation, apparently provoked by live …
Inborn errors of TLR3-or MDA5-dependent type I IFN immunity in children with enterovirus rhombencephalitis
J Chen, H Jing, A Martin-Nalda, P Bastard… - Journal of Experimental …, 2021 - rupress.org
Enterovirus (EV) infection rarely results in life-threatening infection of the central nervous
system. We report two unrelated children with EV30 and EV71 rhombencephalitis. One …
system. We report two unrelated children with EV30 and EV71 rhombencephalitis. One …
Novel genetic discoveries in primary immunodeficiency disorders
MT Redmond, R Scherzer, BT Prince - Clinical reviews in allergy & …, 2022 - Springer
The field of Immunology is one that has undergone great expansion in recent years. With the
advent of new diagnostic modalities including a variety of genetic tests (discussed …
advent of new diagnostic modalities including a variety of genetic tests (discussed …
Vaccinomics and adversomics in the era of precision medicine: a review based on HBV, MMR, HPV, and COVID-19 vaccines
J Omersel, N Karas Kuželički - Journal of clinical medicine, 2020 - mdpi.com
Precision medicine approaches based on pharmacogenomics are now being successfully
implemented to enable physicians to predict more efficient treatments and prevention …
implemented to enable physicians to predict more efficient treatments and prevention …
Inherited and acquired errors of type I interferon immunity govern susceptibility to COVID-19 and multisystem inflammatory syndrome in children
Since the beginning of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-
2)/coronavirus disease 2019 (COVID-19) pandemic, global sequencing efforts have led in …
2)/coronavirus disease 2019 (COVID-19) pandemic, global sequencing efforts have led in …
Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency
S Vavassori, J Chou, LE Faletti, V Haunerdinger… - Journal of Allergy and …, 2021 - Elsevier
Background Recognition of viral nucleic acids is one of the primary triggers for a type I
interferon–mediated antiviral immune response. Inborn errors of type I interferon immunity …
interferon–mediated antiviral immune response. Inborn errors of type I interferon immunity …