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4 Primary immunodeficiency mutation databases

article

A Markov model to analyze cost-effectiveness of screening for severe combined immunodeficiency (SCID) ⬇️

artículo científico publicado el 12 de julio de 2011

A man with distinctive facial features and recurrent pyoderma, pneumonia, and skeletal fractures

scientific article published on 01 April 2004

A novel IL2RG mutation associated with maternal T lymphocyte engraftment in a patient with severe combined immunodeficiency

scientific article published on 07 April 2006

A novel human autoimmune syndrome caused by combined hypomorphic and activating mutations in ZAP-70

artículo científico publicado en 2016

A phenotypic approach for IUIS PID classification and diagnosis: guidelines for clinicians at the bedside

artículo científico publicado en 2013

A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.

artículo científico publicado en 2013

A trial of alemtuzumab adjunctive therapy in allogeneic hematopoietic cell transplantation with minimal conditioning for severe combined immunodeficiency

artículo científico publicado en 2014

A trial of plerixafor adjunctive therapy in allogeneic hematopoietic cell transplantation with minimal conditioning for severe combined immunodeficiency

artículo científico publicado en 2014

Aberrant T-cell antigen receptor-mediated responses in autoimmune lymphoproliferative syndrome

artículo científico publicado en 2002

Abnormal B-cell maturation in the bone marrow of patients with germline mutations in PIK3CD.

artículo científico publicado en 2016

Abnormal development of thymic dendritic and epithelial cells in human X-linked severe combined immunodeficiency

scientific article published on 01 January 2004

Adenosine Deaminase (ADA)-Deficient Severe Combined Immune Deficiency (SCID) in the US Immunodeficiency Network (USIDNet) Registry

scientific article published on 02 September 2020

Allogeneic hematopoietic cell transplantation for primary immune deficiency diseases: current status and critical needs

artículo científico publicado en 2008

An essential role for the Zn2+ transporter ZIP7 in B cell development

artículo científico publicado en 2019

An update on the hyper-IgE syndromes ⬇️

artículo científico publicado el 30 de noviembre de 2012

Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal transducing death domain: Molecular mechanisms and clinical penetrance

article published in 2011

Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance

artículo científico publicado en 2011

Autosomal Dominant Hyper IgE Syndrome

artículo científico publicado en 2012

Autosomal Dominant Hyper-IgE Syndrome in the USIDNET Registry

artículo científico publicado en 2017

Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity

artículo científico publicado en 2004

B cell differentiation and IL-21 response in IL2RG/JAK3 SCID patients after hematopoietic stem cell transplantation.

artículo científico publicado en 2018

B-cell development and functions and therapeutic options in adenosine deaminase-deficient patients.

artículo científico publicado en 2014

Biotechnology. A prudent path forward for genomic engineering and germline gene modification

artículo científico publicado en 2015

Bone density and fractures in autosomal dominant hyper IgE syndrome

artículo científico publicado en 2014

Brain abnormalities in patients with hyperimmunoglobulin E syndrome

artículo científico publicado en 2007

Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency

artículo científico publicado en 2015

Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency.

artículo científico publicado en 2016

Causes of death in hyper-IgE syndrome

artículo científico publicado en 2007

Cellular calibrators to quantitate T-cell receptor excision circles (TRECs) in clinical samples ⬇️

artículo científico publicado el 21 de septiembre de 2012

Chronic Granulomatous Disease-Associated IBD Resolves and Does Not Adversely Impact Survival Following Allogeneic HCT

artículo científico publicado en 2019

Clinical outcome in IL-10- and IL-10 receptor-deficient patients with or without hematopoietic stem cell transplantation

artículo científico publicado en 2012

Combined immunodeficiency due to MALT1 mutations, treated by hematopoietic cell transplantation

artículo científico publicado en 2015

Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation

Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation.

artículo científico publicado en 2008

Consensus approach for the management of severe combined immune deficiency caused by adenosine deaminase deficiency

artículo científico publicado en 2018

Coronin-1A: immune deficiency in humans and mice

artículo científico publicado en 2015

Correction to: Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee

artículo científico publicado en 2020

Correction to: Infections in Infants with SCID: Isolation, Infection Screening and Prophylaxis in PIDTC Centers

artículo científico publicado en 2020

Correction: Chronic Granulomatous Disease-Associated IBD Resolves and Does Not Adversely Impact Survival Following Allogeneic HCT

scientific article published on 29 August 2020

Corrigendum: Primary Immunodeficiency Diseases: An Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency.

artículo científico publicado en 2014

Current Knowledge and Priorities for Future Research in Late Effects after Hematopoietic Stem Cell Transplantation (HCT) for Severe Combined Immunodeficiency Patients: A Consensus Statement from the Second Pediatric Blood and Marrow Transplant Conso

artículo científico publicado en 2017

Deficient T Cell Receptor Excision Circles (TRECs) in autosomal recessive hyper IgE syndrome caused by DOCK8 mutation: implications for pathogenesis and potential detection by newborn screening.

artículo científico publicado en 2011

Dermatitis and the newborn rash of hyper-IgE syndrome

artículo científico publicado en 2004

Development of population-based newborn screening for severe combined immunodeficiency

artículo científico publicado en 2005

Diagnostic assay to assist clinical decisions for unclassified severe combined immune deficiency

scientific article published on 01 June 2020

Diagnostic interpretation of genetic studies in patients with primary immunodeficiency diseases: A working group report of the Primary Immunodeficiency Diseases Committee of the American Academy of Allergy, Asthma & Immunology

artículo científico publicado en 2019

Dominant inhibition of Fas ligand-mediated apoptosis due to a heterozygous mutation associated with autoimmune lymphoproliferative syndrome (ALPS) Type Ib

artículo científico publicado en 2007

Drug selection with paclitaxel restores expression of linked IL-2 receptor gamma -chain and multidrug resistance (MDR1) transgenes in canine bone marrow

artículo científico publicado en 2002

EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay

artículo científico publicado en 2017

Early vs. delayed diagnosis of severe combined immunodeficiency: A family perspective survey ⬇️

artículo científico publicado el 28 de octubre de 2010

Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: the Primary Immune Deficiency Treatment Consortium experience

artículo científico publicado en 2013

Excellent Outcomes Following Hematopoietic Cell Transplantation for Wiskott-Aldrich Syndrome: A PIDTC Report

artículo científico publicado en 2020

Expansion of immunoglobulin-secreting cells and defects in B cell tolerance in Rag-dependent immunodeficiency

artículo científico publicado en 2010

Expert Commentary: Practical Issues in Newborn Screening for Severe Combined Immune Deficiency (SCID) ⬇️

artículo científico publicado el 20 de octubre de 2011

Extended Follow-up After Hematopoietic Cell Transplantation for IκBα Deficiency with Disseminated Mycobacterium avium Infection

scientific article published on 13 December 2019

Familial immunodeficiency with cutaneous vasculitis, myoclonus, and cognitive impairment

artículo científico publicado en 2004

Fluorodeoxyglucose positron emission tomography (FDG-PET) for monitoring lymphadenopathy in the autoimmune lymphoproliferative syndrome (ALPS).

artículo científico publicado en 2006

Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations

artículo científico publicado en 2005

Gene therapy for immune disorders: good news tempered by bad news

artículo científico publicado en 2006

Gene therapy improves immune function in preadolescents with X-linked severe combined immunodeficiency

artículo científico publicado en 2007

Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome

artículo científico publicado en 2006

Genomic Analysis of Historical Cases with Positive Newborn Screens for Short-Chain Acyl-CoA Dehydrogenase Deficiency Shows That a Validated Second-Tier Biochemical Test Can Replace Future Sequencing

scientific article published on 26 May 2020

Genotype, phenotype, and outcomes of nine patients with T-B+NK+ SCID

artículo científico publicado en 2011

HLA B44 is associated with decreased severity of autoimmune lymphoproliferative syndrome in patients with CD95 defects (ALPS type Ia).

artículo científico publicado en 2005

Hematopoietic Cell Transplantation in Patients With Primary Immune Regulatory Disorders (PIRD): A Primary Immune Deficiency Treatment Consortium (PIDTC) Survey

artículo científico publicado en 2020

Hematopoietic stem cell transplantation for severe combined immunodeficiency diseases

artículo científico publicado en 2008

Hematopoietic stem cell transplantation for severe combined immunodeficiency in the neonatal period leads to superior thymic output and improved survival

artículo científico publicado en 2002

Histologic features of sinus histiocytosis with massive lymphadenopathy in patients with autoimmune lymphoproliferative syndrome

artículo científico

History and current status of newborn screening for severe combined immunodeficiency

artículo científico publicado en 2015

Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification

artículo científico publicado en 2020

Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee

scientific article published on 17 January 2020

Hyper IgM Syndrome: a Report from the USIDNET Registry

artículo científico publicado en 2016

Hyper-IgE syndromes

artículo científico publicado en 2005

Hypo-active variant of IL-2 and associated decreased T cell activation contribute to impaired apoptosis in autoimmune prone MRL mice

artículo científico publicado en 2002

IL-21 is the primary common γ chain-binding cytokine required for human B-cell differentiation in vivo

artículo científico publicado en 2011

IL-7 receptor deficient SCID with a unique intronic mutation and post-transplant autoimmunity due to chronic GVHD.

artículo científico publicado en 2007

IL2RG reversion event in a common lymphoid progenitor leads to delayed diagnosis and milder phenotype.

artículo científico publicado en 2015

Immune disorders caused by defects in the caspase cascade

artículo científico publicado en 2003

Immune reconstitution and survival of 100 SCID patients post-hematopoietic cell transplant: a PIDTC natural history study.

artículo científico publicado en 2017

Immunodeficiencies Associated with Abnormal Newborn Screening for T Cell and B Cell Lymphopenia

artículo científico publicado en 2017

Immunodeficiency disorders

artículo científico publicado en 2003

Improving cellular therapy for primary immune deficiency diseases: recognition, diagnosis, and management

artículo científico publicado en 2009

Induction of apoptosis and activation of NF-kappaB by CD95 require different signalling thresholds

artículo científico publicado en 2004

Infections in Infants with SCID: Isolation, Infection Screening, and Prophylaxis in PIDTC Centers

scientific article published on 02 October 2020

Intermediate phenotypes in patients with autosomal dominant hyper-IgE syndrome caused by somatic mosaicism ⬇️

artículo científico publicado el 25 de abril de 2013

International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity.

artículo científico publicado en 2017

Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: The winner is T-cell receptor excision circles ⬇️

artículo científico publicado el 29 de enero de 2012

Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome

artículo científico publicado en 2009

Lentiviral Gene Therapy Combined with Low-Dose Busulfan in Infants with SCID-X1

scientific article published on 01 April 2019

Lentivirus Mediated Correction of Artemis-Deficient Severe Combined Immunodeficiency

artículo científico publicado en 2016

Lessons for Sequencing from the Addition of Severe Combined Immunodeficiency to Newborn Screening Panels

scientific article published on 01 July 2018

Lessons from the Wiskott-Aldrich syndrome.

artículo científico publicado en 2006

Long-Term Tolerability, Safety, and Efficacy of Recombinant Human Hyaluronidase-Facilitated Subcutaneous Infusion of Human Immunoglobulin for Primary Immunodeficiency

artículo científico publicado en 2016

Longstanding Eosinophilia in a Case of Late Diagnosis Chronic Granulomatous Disease

artículo científico publicado en 2016

Low Exposure Busulfan Conditioning to Achieve Sufficient Multilineage Chimerism in Patients with Severe Combined Immunodeficiency

artículo científico publicado en 2019

Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B

scientific journal article

Mutations causing severe combined immunodeficiency: detection with a custom resequencing microarray

artículo científico publicado en 2008

Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome

artículo científico publicado en 2010

NRAS mutation causes a human autoimmune lymphoproliferative syndrome.

artículo científico publicado en 2007

Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations

artículo científico publicado en 2014

Neonatal screening for severe combined immune deficiency

artículo científico publicado en 2007

Neonatal screening for severe combined immunodeficiency ⬇️

artículo científico publicado el 1 de diciembre de 2011

Neurologic event-free survival demonstrates a benefit for SCID patients diagnosed by newborn screening

artículo científico publicado en 2017

Newborn Screening for SCID Identifies Patients with Ataxia Telangiectasia ⬇️

artículo científico publicado el 20 de diciembre de 2012

Newborn Screening for Severe Combined Immunodeficiency and T-cell Lymphopenia in California, 2010-2017

artículo científico publicado en 2019

Newborn Screening for Severe Combined Immunodeficiency in the US: Current Status and Approach to Management

scientific article published on 21 June 2017

Newborn Screening for Severe Combined Immunodeficiency in the United States: Lessons Learned

artículo científico publicado en 2018

Newborn Sequencing in Genomic Medicine and Public Health

artículo científico publicado en 2017

Newborn screening for severe combined immunodeficiency and T-cell lymphopenia

artículo científico publicado en 2019

Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: results of the first 2 years

artículo científico publicado en 2013

Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States

artículo científico publicado en 2014

Nijmegen breakage syndrome detected by newborn screening for T cell receptor excision circles (TRECs)

artículo científico publicado en 2015

Novel Mutation in the Class II Transactivator Associated with Immunodeficiency and Autoimmunity

artículo científico publicado en 2015

Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency

scientific article published on 12 March 2019

Parallel genotyping of over 10,000 SNPs using a one-primer assay on a high-density oligonucleotide array

artículo científico publicado en 2004

Parental Views on Expanded Newborn Screening Using Whole-Genome Sequencing

artículo científico publicado en 2016

Perspectives of gene therapy for primary immunodeficiencies

artículo científico publicado en 2004

Plasma cell deficiency in human subjects with heterozygous mutations in Sec61 translocon alpha 1 subunit (SEC61A1).

artículo científico publicado en 2017

Pleiotropic defects in lymphocyte activation caused by caspase-8 mutations lead to human immunodeficiency

artículo científico publicado en 2002

Pneumocystis jiroveci infection in patients with hyper-immunoglobulin E syndrome

artículo científico publicado en 2006

Polymer-stabilized Cas9 nanoparticles and modified repair templates increase genome editing efficiency

scientific article published on 09 December 2019

Population-based newborn screening for severe combined immunodeficiency.

artículo científico publicado en 2008

Population-based newborn screening for severe combined immunodeficiency: steps toward implementation

artículo científico publicado en 2007

Primary Immune Deficiency Treatment Consortium (PIDTC) report

artículo científico publicado en 2013

Primary Immune Deficiency Treatment Consortium (PIDTC) update

artículo científico publicado en 2016

Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015.

artículo científico publicado en 2015

Primary immunodeficiencies: 2009 update

artículo científico publicado en 2009

Primary immunodeficiency diseases: an update

artículo científico publicado en 2004

Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee

artículo científico publicado en 2007

Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee Meeting in Budapest, 2005

artículo científico publicado en 2006

Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency

artículo científico publicado en 2014

Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency

artículo científico publicado en 2011

Primary immunodeficiency: Meeting the challenges

article

Pyrimethamine treatment does not ameliorate lymphoproliferation or autoimmune disease in MRL/lpr-/- mice or in patients with autoimmune lymphoproliferative syndrome

artículo científico publicado en 2007

Recombinant human hyaluronidase facilitated subcutaneous immunoglobulin treatment in pediatric patients with primary immunodeficiencies: long-term efficacy, safety and tolerability

artículo científico publicado en 2016

Recombinant human hyaluronidase-facilitated subcutaneous infusion of human immunoglobulins for primary immunodeficiency ⬇️

artículo científico publicado el 28 de julio de 2012

Recommendations for Screening and Management of Late Effects in Patients with Severe Combined Immunodeficiency after Allogenic Hematopoietic Cell Transplantation: A Consensus Statement from the Second Pediatric Blood and Marrow Transplant Consortium

artículo científico publicado en 2017

Recommendations for live viral and bacterial vaccines in immunodeficient patients and their close contacts

artículo científico publicado en 2014

Reference intervals for lymphocyte subsets in preterm and term neonates without immune defects

scientific article published on 18 June 2019

Reply: To PMID 22285280

scientific article published on 12 January 2013

Retroviral transduction of IL2RG into CD34+ cells from X-linked severe combined immunodeficiency patients permits human T- and B-cell development in sheep chimeras

article

SCID genotype and 6-month posttransplant CD4 count predict survival and immune recovery

scientific article published on 28 August 2018

STAT3 mutations in the hyper-IgE syndrome

artículo científico publicado en 2007

Severe combined immunodeficiencies and related disorders

artículo científico publicado en 2015

Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion

artículo científico publicado en 2008

Severe combined immunodeficiency: new advances in diagnosis and treatment

artículo científico publicado en 2007

Single nucleotide polymorphisms in the apoptosis receptor gene TNFRSF6.

artículo científico publicado en 2005

Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome

artículo científico publicado en 2010

Somatic mutations--not just for cancer anymore

scientific article published on 01 September 2004

Successes and risks of gene therapy in primary immunodeficiencies

artículo científico publicado en 2004

Successful SCID Gene Therapy in Infant with Disseminated BCG

scientific article published on 16 September 2020

Successful newborn screening for SCID in the Navajo Nation

artículo científico publicado en 2015

The 2015 IUIS Phenotypic Classification for Primary Immunodeficiencies

artículo científico publicado en 2015

The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies

artículo científico publicado en 2017

The actin regulator coronin 1A is mutant in a thymic egress-deficient mouse strain and in a patient with severe combined immunodeficiency

artículo científico publicado en 2008

The case for newborn screening for severe combined immunodeficiency and related disorders ⬇️

artículo científico publicado el 1 de diciembre de 2011

The genetic landscape of severe combined immunodeficiency in the United States and Canada in the current era (2010-2018)

scientific article published on 05 September 2018

The hyper IgE syndrome and mutations in TYK2

artículo científico publicado en 2007

The hyper-IgE syndrome is not caused by a microdeletion syndrome

artículo científico publicado en 2007

The natural history of children with severe combined immunodeficiency: baseline features of the first fifty patients of the primary immune deficiency treatment consortium prospective study 6901.

artículo científico publicado en 2013

The role of exome sequencing in newborn screening for inborn errors of metabolism

artículo científico publicado en 2020

Transcription factor zinc finger and BTB domain 1 is essential for lymphocyte development

artículo científico publicado en 2012

Transplantation outcomes for severe combined immunodeficiency, 2000-2009.

artículo científico publicado en 2014

Treatment of infants identified as having severe combined immunodeficiency by means of newborn screening

artículo científico publicado en 2017

Treatment of patients with new onset Type 1 diabetes with a single course of anti-CD3 mAb Teplizumab preserves insulin production for up to 5 years

scientific article published on 14 May 2009

USE OF GENOME DATA IN NEWBORNS AS A STARTING POINT FOR LIFE-LONG PRECISION MEDICINE.

artículo científico publicado en 2016

USIDNET: a strategy to build a community of clinical immunologists

artículo científico publicado en 2014

Unknown Cytomegalovirus Serostatus in Primary Immunodeficiency Disorders: A New Category of Transplant Recipients

artículo científico publicado en 2020

Update on the safety and efficacy of retroviral gene therapy for immunodeficiency due to adenosine deaminase deficiency.

artículo científico publicado en 2016

Use of mycophenolate mofetil for chronic, refractory immune cytopenias in children with autoimmune lymphoproliferative syndrome

artículo científico publicado en 2005

Use of rituximab for refractory cytopenias associated with autoimmune lymphoproliferative syndrome (ALPS)

artículo científico publicado en 2009

Whole exome and whole genome sequencing with dried blood spot DNA without whole genome amplification.

artículo científico publicado en 2017

X Inactivation in Females with X-Linked Disease

article published in 1998

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