Nature Search

Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency

Inborn errors of the alternative NF-κB pathway in humans impair the development of AIRE-expressing medullary thymic epithelial cells, thereby underlying the production of autoantibodies against type I IFNs and predisposition to viral diseases

Tom Le Voyer
Audrey V. Parent
Anne Puel
ResearchOpen Access08 Nov 2023
Nature

Volume: 623, P: 803-813
Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine

María Julia Calonge
Paolo Gasparini
Manuel Palacín
Research01 Apr 1994
Nature Genetics

Volume: 6, P: 420-425
Hyperactivated PI3Kδ promotes self and commensal reactivity at the expense of optimal humoral immunity

Patients who express a hyperactive mutant of the kinase PI3K exhibit defective humoral immunity. Preite et al. show that overactive PI3K leads to defective class-switched antigen-specific responses to immunization, despite augmented germinal-center formation and reactivity to commensal microbes and self antigens.

Silvia Preite
Jennifer L. Cannons
Pamela L. Schwartzberg
Research20 Aug 2018
Nature Immunology

Volume: 19, P: 986-1000
Tuberculosis in otherwise healthy adults with inherited TNF deficiency

Human TNF is required for respiratory-burst-dependent immunity to Mycobacterium tuberculosis in macrophages but seems to be largely redundant physiologically.

Andrés A. Arias
Anna-Lena Neehus
Stéphanie Boisson-Dupuis
ResearchOpen Access28 Aug 2024
Nature

Volume: 633, P: 417-425
Nodal is a novel TGF-β-like gene expressed in the mouse node during gastrulation

Xunlei Zhou
Hiroshi Sasaki
Michael R. Kuehn
Research11 Feb 1993
Nature

Volume: 361, P: 543-547
Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency

Here, the authors describe biallelic loss-of-function variants in human SHARPIN in individuals with autoinflammation and immunodeficiency, termed sharpenia. They also successfully treat one of these individuals with TNF inhibitors.

Hirotsugu Oda
Kalpana Manthiram
Daniel L. Kastner
Research12 Apr 2024
Nature Immunology

Volume: 25, P: 764-777
Human TMEFF1 is a restriction factor for herpes simplex virus in the brain

A study of two childhood cases of herpes simplex encephalitis shows that TMEFF1 interacts with the HSV-1 cell-surface receptor NECTIN-1, preventing HSV-1 from fusing with the cell membrane and entering cortical neurons.

Yi-Hao Chan
Zhiyong Liu
Shen-Ying Zhang
ResearchOpen Access24 Jul 2024
Nature

Volume: 632, P: 390-400
Inherited ARPC5 mutations cause an actinopathy impairing cell motility and disrupting cytokine signaling

Mutations that impact the function of the Arp2/3 complex are known to cause inborn errors of immunity. Here the authors describe biallelic null mutations in the ARPC5 subunit of Arp2/3 that disrupt actin function and cytokine signaling, causing infections, autoimmunity, inflammation and dysmorphisms.

Cristiane J. Nunes-Santos
HyeSun Kuehn
Sergio D. Rosenzweig
ResearchOpen Access22 Jun 2023
Nature Communications

Volume: 14, P: 1-12
Partial RAG deficiency in humans induces dysregulated peripheral lymphocyte development and humoral tolerance defect with accumulation of T-bet⁺ B cells

Patients with partial recombination-activating gene (RAG) deficiency (pRD) present variable late-onset autoimmune clinical phenotypes. Walter and colleagues identified a restricted primary B cell antigen receptor repertoire enriched for autoreactivity and clonal persistence in pRD. They described dysregulated B cell maturation with expansion of T-bet⁺ B cells revealing how RAG impacts stringency of tolerance and B cell fate in the periphery.

Krisztian Csomos
Boglarka Ujhazi
Jolan E. Walter
ResearchOpen Access28 Jul 2022
Nature Immunology

Volume: 23, P: 1256-1272
Lessons learned: new insights on the role of cytokines in COVID-19

In the midst of resurging COVID-19 cases, the second NIH/FDA virtual COVID-19 and Cytokines symposium was held on 1 December 2020, focusing on longitudinal studies of COVID-19 immunity, including long-term consequences, potential associations with autoimmunity and the multisystem inflammatory syndrome in children (MIS-C).

Maja Buszko
Aleksandra Nita-Lazar
Amy S. Rosenberg
News & Views15 Mar 2021
Nature Immunology

Volume: 22, P: 404-411
Immunopathological signatures in multisystem inflammatory syndrome in children and pediatric COVID-19

Transcriptomic, proteomic and immune repertoire profiling reveals distinct peripheral features of MIS-C and pediatric COVID-19, including elevated soluble spike protein levels, more pronounced type II IFN-dependent gene expression and a higher B cell mutation rate in patients with MIS-C.

Keith Sacco
Riccardo Castagnoli
Luigi D. Notarangelo
Research17 Feb 2022
Nature Medicine

Volume: 28, P: 1050-1062
Human SNORA31 variations impair cortical neuron-intrinsic immunity to HSV-1 and underlie herpes simplex encephalitis

Herpes simplex virus-1 encephalitis is linked to variants in a small nucleolar RNA, suggesting a new mechanism for antiviral immunity in cortical neurons.

Fabien G. Lafaille
Oliver Harschnitz
Shen-Ying Zhang
Research05 Dec 2019
Nature Medicine

Volume: 25, P: 1873-1884
Lentivector cryptic splicing mediates increase in CD34+ clones expressing truncated HMGA2 in human X-linked severe combined immunodeficiency

De Ravin et al. report an unplanned interim analysis of a secondary safety outcome for an ongoing clinical trial on lentiviral gene therapy for the treatment of X-linked Severe Combined Immunodeficiency (NCT01306019). Vector induced alternative splicing events are identified that cause aberrant fusion transcripts, leading to clonal dominance in a single patient and clonal expansion in others. This can be mitigated by the removal of the lentivector cryptic splice acceptor.

Suk See De Ravin
Siyuan Liu
Xiaolin Wu
ResearchOpen Access28 Jun 2022
Nature Communications

Volume: 13, P: 1-15
Wiskott–Aldrich syndrome protein (WASP) is a tumor suppressor in T cell lymphoma

WASP is a novel tumor-suppressor gene in ALK-driven anaplastic large cell lymphoma through modulation of CDC42 and MAPK signaling and provides a rationale for combination therapy.

Matteo Menotti
Chiara Ambrogio
Roberto Chiarle
Research03 Dec 2018
Nature Medicine

Volume: 25, P: 130-140
Adaptive immune responses to SARS-CoV-2 persist in the pharyngeal lymphoid tissue of children

Manthiram and colleagues analyze the peripheral blood, tonsils and adenoids in children undergoing tonsillectomy or adenoidectomy and find evidence of continued tissue-specific immunity to SARS-CoV-2 and viral RNA persistence weeks to months after acute infection.

Qin Xu
Pedro Milanez-Almeida
Kalpana Manthiram
Research19 Dec 2022
Nature Immunology

Volume: 24, P: 186-199
Whole-genome sequencing of a sporadic primary immunodeficiency cohort

Whole-genome sequencing analysis of individuals with primary immunodeficiency identifies new candidate disease-associated genes and shows how the interplay between genetic variants can explain the variable penetrance and complexity of the disease.

James E. D. Thaventhiran
Hana Lango Allen
Kenneth G. C. Smith
Research06 May 2020
Nature

Volume: 583, P: 90-95
The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM

J. Sayos
C. Wu
C. Terhorst
Research01 Oct 1998
Nature

Volume: 395, P: 462-469
Production and persistence of specific antibodies in COVID-19 patients with hematologic malignancies: role of rituximab

C. Cattaneo
V. Cancelli
L. D. Notarangelo
ResearchOpen Access14 Sept 2021
Blood Cancer Journal

Volume: 11, P: 1-7
A Case of Ataxia-Telengiectasia with Persistent Massive Lymphoproliferation

A Kambourakis
E Stiakaki
M Kalmanti
Research01 May 1999
Pediatric Research

Volume: 45, P: 758
CLINICAL AND MOLECULAR FEATURES OF X-LINKED IMMUNODEFICIENCY WITH HYPER-IgM: A EUROPEAN SURVAY 5

F Candotti
J Levy
L D Notarangelo
Research01 May 1997
Pediatric Research

Volume: 41, P: 729
What's in this issue

Paul Stephenson
Mark L Levy
Editorial21 Dec 2007
Primary Care Respiratory Journal

Volume: 16, P: 329-330
Human genetic and immunological determinants of critical COVID-19 pneumonia

The COVID Human Genetic Effort examines the molecular, cellular and immunological determinants of the various SARS-CoV-2-related disease manifestations by searching for causal errors of immunity.

Qian Zhang
Paul Bastard
Jean-Laurent Casanova
Reviews28 Jan 2022
Nature

Volume: 603, P: 587-598
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

Yanick Crow, Sun Hur and colleagues show that gain-of-function mutations in IFIH1 cause a spectrum of neural and immunological phenotypes associated with enhanced interferon signaling. The mutations increase the affinity of IFIH1 for RNA, leading to immune upregulation and inflammatory disease.

Gillian I Rice
Yoandris del Toro Duany
Yanick J Crow
Research30 Mar 2014
Nature Genetics

Volume: 46, P: 503-509
PTX3 genetic variations affect the risk of Pseudomonas aeruginosa airway colonization in cystic fibrosis patients

M Chiarini
C Sabelli
R Badolato
ResearchOpen Access07 Oct 2010
Genes & Immunity

Volume: 11, P: 665-670
Alterations in the brain adenosine metabolism cause behavioral and neurological impairment in ADA-deficient mice and patients

Aisha V. Sauer
Raisa Jofra Hernandez
Alessandro Aiuti
ResearchOpen Access11 Jan 2017
Scientific Reports

Volume: 7, P: 1-13
Stem cell transplantation for primary immunodeficiencies

F Porta
C Forino
E Mazzolari
Research11 Jun 2008
Bone Marrow Transplantation

Volume: 41, P: S83-S86
Pediatric SARS-CoV-2 long term outcomes study (PECOS): cross sectional analysis at baseline

Gina A. Montealegre Sanchez
Lauren E. Arrigoni
Roberta L. DeBiasi
ResearchOpen Access18 Dec 2024
Pediatric Research

Volume: 98, P: 541-550
First report of successful stem cell transplantation in a child with CD40 deficiency

E Mazzolari
G Lanzi
N Kutukculer
Correspondence14 May 2007
Bone Marrow Transplantation

Volume: 40, P: 279-281
Stem cell transplantation for the Wiskott–Aldrich syndrome: a single-center experience confirms efficacy of matched unrelated donor transplantation

S-Y Pai
D DeMartiis
E Mazzolari
Research02 Oct 2006
Bone Marrow Transplantation

Volume: 38, P: 671-679
Jak3 deficiency blocks innate lymphoid cell development

M L Robinette
M Cella
M Colonna
Research17 May 2017
Mucosal Immunology

Volume: 11, P: 50-60
Hematopoietic stem cell transplantation in Omenn syndrome: a single-center experience

E Mazzolari
D Moshous
L D Notarangelo
Research23 May 2005
Bone Marrow Transplantation

Volume: 36, P: 107-114
A new case of IPEX receiving bone marrow transplantation

E Mazzolari
C Forino
L D Notarangelo
Correspondence21 Mar 2005
Bone Marrow Transplantation

Volume: 35, P: 1033-1034
Retrovirus-mediated WASP gene transfer corrects defective actin polymerization in B cell lines from Wiskott–Aldrich syndrome patients carrying ‘null’ mutations

F Candotti
F Facchetti
R M Blaese
Research25 Jun 1999
Gene Therapy

Volume: 6, P: 1170-1174
A mutation in caspase-9 decreases the expression of BAFFR and ICOS in patients with immunodeficiency and lymphoproliferation

N Clemente
E Boggio
A Chiocchetti
Research08 Jan 2015
Genes & Immunity

Volume: 16, P: 151-161
Clonality profile in relapsed precursor-B-ALL children by GeneScan and sequencing analyses. Consequences on minimal residual disease monitoring

G Germano
L del Giudice
G Basso
Research29 Jul 2003
Leukemia

Volume: 17, P: 1573-1582
Mortality from second tumour among long-term survivors of retinoblastoma: a retrospective analysis of the Italian retinoblastoma registry

A Acquaviva
L Ciccolallo
G Morgese
Reviews28 Aug 2006
Oncogene

Volume: 25, P: 5350-5357

Search

Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency

Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine

Hyperactivated PI3Kδ promotes self and commensal reactivity at the expense of optimal humoral immunity

Tuberculosis in otherwise healthy adults with inherited TNF deficiency

Nodal is a novel TGF-β-like gene expressed in the mouse node during gastrulation

Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency

Human TMEFF1 is a restriction factor for herpes simplex virus in the brain

Inherited ARPC5 mutations cause an actinopathy impairing cell motility and disrupting cytokine signaling

Partial RAG deficiency in humans induces dysregulated peripheral lymphocyte development and humoral tolerance defect with accumulation of T-bet⁺ B cells

Lessons learned: new insights on the role of cytokines in COVID-19

Immunopathological signatures in multisystem inflammatory syndrome in children and pediatric COVID-19

Human SNORA31 variations impair cortical neuron-intrinsic immunity to HSV-1 and underlie herpes simplex encephalitis

Lentivector cryptic splicing mediates increase in CD34+ clones expressing truncated HMGA2 in human X-linked severe combined immunodeficiency

Wiskott–Aldrich syndrome protein (WASP) is a tumor suppressor in T cell lymphoma

Adaptive immune responses to SARS-CoV-2 persist in the pharyngeal lymphoid tissue of children

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM

Production and persistence of specific antibodies in COVID-19 patients with hematologic malignancies: role of rituximab

A Case of Ataxia-Telengiectasia with Persistent Massive Lymphoproliferation

CLINICAL AND MOLECULAR FEATURES OF X-LINKED IMMUNODEFICIENCY WITH HYPER-IgM: A EUROPEAN SURVAY 5

What's in this issue

Human genetic and immunological determinants of critical COVID-19 pneumonia

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

PTX3 genetic variations affect the risk of Pseudomonas aeruginosa airway colonization in cystic fibrosis patients

Alterations in the brain adenosine metabolism cause behavioral and neurological impairment in ADA-deficient mice and patients

Stem cell transplantation for primary immunodeficiencies

Pediatric SARS-CoV-2 long term outcomes study (PECOS): cross sectional analysis at baseline

First report of successful stem cell transplantation in a child with CD40 deficiency

Stem cell transplantation for the Wiskott–Aldrich syndrome: a single-center experience confirms efficacy of matched unrelated donor transplantation

Jak3 deficiency blocks innate lymphoid cell development

Hematopoietic stem cell transplantation in Omenn syndrome: a single-center experience

A new case of IPEX receiving bone marrow transplantation

Retrovirus-mediated WASP gene transfer corrects defective actin polymerization in B cell lines from Wiskott–Aldrich syndrome patients carrying ‘null’ mutations

A mutation in caspase-9 decreases the expression of BAFFR and ICOS in patients with immunodeficiency and lymphoproliferation

Clonality profile in relapsed precursor-B-ALL children by GeneScan and sequencing analyses. Consequences on minimal residual disease monitoring

Mortality from second tumour among long-term survivors of retinoblastoma: a retrospective analysis of the Italian retinoblastoma registry

Search

Quick links

Search

Filter By:

Search

Quick links