Rare variants in CYBB (encoding gp91phox) are responsible for chronic granulomatous disease. In @jhumimmunity.org, Roelens, Bustamante et al. report a patient affected by multiple cerebral abscesses caused by #Acanthamoeba sp. and complete gp91phox deficiency. rupress.org/jhi/article/...
#CGD
We review the known (and unknown) host genetic and immunological factors predisposing to life-threatening viral infection in early life: our βcurrent opinion inβ viral infection of the fetus and newborn. With Maya Rhyn, Angela Castellano, Valeria Cortesi, Noa Trojman doi.org/10.1016/j.co...
A man wearing a blue shirt stands in a hallway, with walls and floor visible in the background.
We're proud to announce that infectious disease pioneer Jean-Laurent Casanova, MD, PhD, of @rockefeller.edu, @institutimagine.bsky.social, @hhmi-science.bsky.social, & @casanovalab.bsky.social, is the recipient of the 2026 Mechthild Esser #NemmersPrize in Medical Science: spr.ly/6008hCUaM
Autoantibodies neutralizing type 1 interferons in two cohorts of people with HIV url: rupress.org/jhi/article/...
Connecting the dots
We are building a world without NEC for all babies and familiesβit doesn't matter where they're from, what language they speak, or what they look like. All babies need to be protected from necrotizing enterocolitis (NEC).
1/ Weβre seeking Sponsors for the 3rd International Symposium on Inborn Errors of Immunity (IEI), and their phenocopies, to be held in Lofoten, Norway, in June 2027.
www.hgid.org/collaborativ...
1/ We are excited to share our new report in @jem.org showing that almost 40% cases of herpesvirus (HSV)-triggered fulminant viral hepatitis (FVH) are due to pre-existing autoantibodies neutralizing type I IFN (autoAbs-IFN) (doi.org/10.1084/jem....).
Not all FVH are equal: some are due to IFN-I neutralizing auto-Abs, others not
A patient with recessive TBK1 deficiency and lethal viral disease:
Recurrent severe viral infection in a child with inherited complete TBK1 deficiency url: rupress.org/jhi/article/...
Kilic, Zhao et al. report a child w/ a homozygous TBK1 mutation previously linked to #autoinflammation, suggesting its role in recurrent severe viral infections; the patient died from acute disseminated #encephalomyelitis. rupress.org/jhi/article/...
@casanovalab.bsky.social
@clinimmsoc.bsky.social
Human inborn errors of the alternative NF-ΞΊB pathway. New review from Tom Le Voyer, Jean-Laurent Casanova @casanovalab.bsky.social, and Anne Puel @anne-puel.bsky.social: rupress.org/jhi/article/...
#InbornErrorsOfImmunity
Automated data extraction model for the USIDNET registry: Bigger, faster, and better data collection url: rupress.org/jhi/article/...
The place to publish your best papers
More than a review: a detailed description of the principles to study any infectious disease, by the covidhge.com
Auto-Abs against type I IFNs: strong, common, and global determinants of severe #arboviral diseases
A fascinating genetic and mechanistic study:
ORAI1 mutation with mixed loss- and gain-of-function properties causes immunodeficiency and HLH url: rupress.org/jhi/article/...
Don't forget sequencing the promoter !
A WAS promoter variant underlying Wiskott-Aldrich syndrome in two kindreds url: rupress.org/jhi/article/...
Ober, Lenoir, @jrosain.bsky.social et al. report the same ultra-rare pathogenic noncoding single-nucleotide variant in the promoter of WAS in four male patients from two unrelated kindreds w/ features of Wiskott-Aldrich Syndrome. rupress.org/jhi/article/...
@esidsociety.bsky.social
Life-threatening arboviral diseases are being increasingly explained by auto-Abs neutralizing type I IFNs. The other way out, type I IFNs are emerging as βstrong, common and global determinantsβ of life-threatening (arbo)viral diseases
One medically relevant and biologically intriguing life-threatening disease progressively deciphered
Everything you always wanted to know about Cartilage-hair hypoplasia but never dared asking:
Cartilage-hair hypoplasia: A comprehensive review url: rupress.org/jhi/article/...
The question is not IF but WHEN:
Toward universal screening for disease-causing alleles: Mendelian susceptibility to mycobacterial disease as a model url: rupress.org/jhi/article/...
Fulminant viral hepatitis is less and less "idiopathic":
Inherited IL-18BP deficiency in two Egyptian siblings with fulminant viral hepatitis url: rupress.org/jhi/article/...
Thomas Weitering, Mirjam van der Burg et al. @unileiden.bsky.social review the available literature on newborn screening outcomes and neonatal TREC levels in patients with #AtaxiaTelangiectasia, as well as the available symptomatic treatment options
A MUST-READ Review on Penetrance of Human Monogenic Inborn Errors (of Immunity, or not):
Incomplete penetrance in inborn errors of immunity: A skeleton in the closetβThe sequel url: rupress.org/jhi/article/...
A superb Review on a new syndromic IEI, due to GOF mutations in G protein-encoding GNAI2:
MAGIS syndrome: Phenotypes, pathogenesis, and treatment url: rupress.org/jhi/article/...
Functional validation of PIK3R1 variant causing activated phosphoinositide 3-kinase-Ξ΄ syndrome 2 with hypogammaglobulinemia and bronchiectasis url: rupress.org/jhi/article/...
Ethical and equitable considerations when establishing a diagnosis of an inborn error of immunity url: rupress.org/jhi/article/...
A must-read for anyone interested in human B cell physiology or pathology !
