Inborn errors of metabolism underlying primary immunodeficiencies

Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment

(2014) Yu Zhang et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels

(2014) Atfa Sassi et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Endoplasmic Reticulum Stress Regulator XBP-1 Contributes to Effector CD8+ T Cell Differentiation during Acute Infection

(2014) D. Kamimura et al.   JOURNAL OF IMMUNOLOGY

Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2

(2014) Qing Zhou et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mutant Adenosine Deaminase 2 in a Polyarteritis Nodosa Vasculopathy

(2014) Paulina Navon Elkan et al.   NEW ENGLAND JOURNAL OF MEDICINE

Autoinflammatory bone disorders

(2013) Henner Morbach et al.   CLINICAL IMMUNOLOGY

Autoinflammatory bone disorders

(2013) Manisha Sharma et al.   CURRENT OPINION IN RHEUMATOLOGY

Purine nucleoside phosphorylase deficiency presenting as severe combined immune deficiency

(2013) Raz Somech et al.   IMMUNOLOGIC RESEARCH

Primary immunodeficiencies: A rapidly evolving story

(2013) Nima Parvaneh et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

A Phenotypic Approach for IUIS PID Classification and Diagnosis: Guidelines for Clinicians at the Bedside

(2013) Ahmed Aziz Bousfiha et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Intermittent Neutropenia as an Early Feature of Mild Mevalonate Kinase Deficiency

(2013) Nima Parvaneh et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Severe Combined Immunodeficiency Resulting From Mutations in MTHFD1

(2013) M. D. Keller et al.   PEDIATRICS

Lipins, lipinopathies, and the modulation of cellular lipid storage and signaling

(2013) Lauren S. Csaki et al.   PROGRESS IN LIPID RESEARCH

Induced Pluripotent Stem Cells with a Mitochondrial DNA Deletion

(2013) Anne B. C. Cherry et al.   STEM CELLS

Liver Transplantation Followed by Allogeneic Hematopoietic Stem Cell Transplantation for Atypical Mevalonic Aciduria

(2012) S. Chaudhury et al.   AMERICAN JOURNAL OF TRANSPLANTATION

Leukocyte adhesion deficiencies

(2012) Suhair Hanna et al.   Annals of the New York Academy of Sciences

Hyper-IgE syndrome update

(2012) Kathryn J. Sowerwine et al.   Annals of the New York Academy of Sciences

Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review

(2012) Nienke ter Haar et al.   ANNALS OF THE RHEUMATIC DISEASES

Efficacy of anti-IL-1 treatment in Majeed syndrome

(2012) Troels Herlin et al.   ANNALS OF THE RHEUMATIC DISEASES

Vitamin B12 absorption: Mammalian physiology and acquired and inherited disorders

(2012) Renata Kozyraki et al.   BIOCHIMIE

Glucose-6-phosphatase- , implicated in a congenital neutropenia syndrome, is essential for macrophage energy homeostasis and functionality

(2012) H. S. Jun et al.   BLOOD

Outcome of hematopoietic stem cell transplantation for adenosine deaminase-deficient severe combined immunodeficiency

(2012) A. Hassan et al.   BLOOD

Mevalonate kinase deficiency, a metabolic autoinflammatory disease

(2012) Robert van der Burgh et al.   CLINICAL IMMUNOLOGY

Haematological features in Barth syndrome

(2012) Josef Finsterer et al.   CURRENT OPINION IN HEMATOLOGY

Genetics and Pathophysiology of Severe Congenital Neutropenia Syndromes Unrelated to Neutrophil Elastase

(2012) Kaan Boztug et al.   HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA

Delayed-onset adenosine deaminase deficiency: Strategies for an early diagnosis

(2012) Carsten Speckmann et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Pulmonary alveolar proteinosis in patients with adenosine deaminase deficiency

(2012) Eyal Grunebaum et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Lipin-2 Reduces Proinflammatory Signaling Induced by Saturated Fatty Acids in Macrophages

(2012) Martín Valdearcos et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Neurology of inherited glycosylation disorders

(2012) Hudson H Freeze et al.   LANCET NEUROLOGY

Impaired phagocytosis in macrophages from patients affected by lysinuric protein intolerance

(2012) Amelia Barilli et al.   MOLECULAR GENETICS AND METABOLISM

Lysinuric protein intolerance (LPI): A multi organ disease by far more complex than a classic urea cycle disorder

(2012) Hélène Ogier de Baulny et al.   MOLECULAR GENETICS AND METABOLISM

Activation of autophagy by inflammatory signals limits IL-1β production by targeting ubiquitinated inflammasomes for destruction

(2012) Chong-Shan Shi et al.   NATURE IMMUNOLOGY

Human mitochondrial DNA: roles of inherited and somatic mutations

(2012) Eric A. Schon et al.   NATURE REVIEWS GENETICS

Efficacy of interleukin-1-targeting drugs in mevalonate kinase deficiency

(2012) C. Galeotti et al.   RHEUMATOLOGY

Current Understanding of the Pathogenesis and Management of Chronic Recurrent Multifocal Osteomyelitis

(2012) Polly J. Ferguson et al.   Current Rheumatology Reports

Lysinuric protein intolerance: Reviewing concepts on a multisystem disease

(2011) Gianfranco Sebastio et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Inborn errors of cobalamin absorption and metabolism

(2011) David Watkins et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

G-CSF improves murine G6PC3-deficient neutrophil function by modulating apoptosis and energy homeostasis

(2011) H. S. Jun et al.   BLOOD

Macrophages in the Pathogenesis of Atherosclerosis

(2011) Kathryn J. Moore et al.   CELL

Congenital disorders of glycosylation

(2011) Miranda Theodore et al.   CURRENT OPINION IN PEDIATRICS

Hyper-IgD syndrome or mevalonate kinase deficiency

(2011) Monique Stoffels et al.   CURRENT OPINION IN RHEUMATOLOGY

The cellular and molecular mechanisms for neutropenia in Barth syndrome

(2011) Vahagn Makaryan et al.   EUROPEAN JOURNAL OF HAEMATOLOGY

Eponym

(2011) Atsuhito Takeda et al.   EUROPEAN JOURNAL OF PEDIATRICS

G6PC3 mutations are associated with a major defect of glycosylation: a novel mechanism for neutrophil dysfunction

(2011) B. Hayee et al.   GLYCOBIOLOGY

Occurrence of myelodysplastic syndrome in 2 patients with reticular dysgenesis

(2011) Chantal Lagresle-Peyrou et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Autophagy Controls IL-1β Secretion by Targeting Pro-IL-1β for Degradation

(2011) James Harris et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Inflammatory links between obesity and metabolic disease

(2011) Carey N. Lumeng et al.   JOURNAL OF CLINICAL INVESTIGATION

Update and new concepts in vitamin responsive disorders of folate transport and metabolism

(2011) David Watkins et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband

(2011) D. Watkins et al.   JOURNAL OF MEDICAL GENETICS

Extended Spectrum of Human Glucose-6-Phosphatase Catalytic Subunit 3 Deficiency: Novel Genotypes and Phenotypic Variability in Severe Congenital Neutropenia

(2011) Kaan Boztug et al.   JOURNAL OF PEDIATRICS

Purine Nucleoside Phosphorylase Deficiency: A Mutation Update

(2011) P. L. C. Walker et al.   NUCLEOSIDES NUCLEOTIDES & NUCLEIC ACIDS

Mevalonate Kinase Deficiency: A Survey of 50 Patients

(2011) B. Bader-Meunier et al.   PEDIATRICS

Journal Info Home About the Journal Editorial Board Archive Research Topics View Some Authors Review Guidelines Subscribe to Alerts Search Article Type Publication Date ...... Go Author Info Why Submit? Fees Article Types Author Guidelines Submission Checklist Contact Editorial Office Submit Manuscript Review ARTICLE Abstract Full Text PDF 0 Write a Comment Primary immunodeficiency diseases: an update on the classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency

(2011) Waleed Al-Herz   Frontiers in Immunology

Whole-Exome-Sequencing-Based Discovery of Human FADD Deficiency

(2010) Alexandre Bolze et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Enzymes of the mevalonate pathway of isoprenoid biosynthesis

(2010) Henry M. Miziorko   ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS

Lack of glucose recycling between endoplasmic reticulum and cytoplasm underlies cellular dysfunction in glucose-6-phosphatase- -deficient neutrophils in a congenital neutropenia syndrome

(2010) H. S. Jun et al.   BLOOD

Adenylate Kinase 2 Links Mitochondrial Energy Metabolism to the Induction of the Unfolded Protein Response

(2010) Alison Burkart et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Structural Basis for the Growth Factor Activity of Human Adenosine Deaminase ADA2

(2010) Anton V. Zavialov et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Leukocyte Adhesion Deficiency Type II: Long-Term Follow-Up and Review of the Literature

(2010) Yael Gazit et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Compromized geranylgeranylation of RhoA and Rac1 in mevalonate kinase deficiency

(2010) L. Henneman et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Should transcobalamin deficiency be treated aggressively?

(2010) Manuel Schiff et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Human adenosine deaminase 2 induces differentiation of monocytes into macrophages and stimulates proliferation of T helper cells and macrophages

(2010) A. V. Zavialov et al.   JOURNAL OF LEUKOCYTE BIOLOGY

Lipids, Mitochondria and Cell Death: Implications in Neuro-oncology

(2010) Alison Colquhoun   MOLECULAR NEUROBIOLOGY

A role for mitochondria in NLRP3 inflammasome activation

(2010) Rongbin Zhou et al.   NATURE

Autophagy proteins regulate innate immune responses by inhibiting the release of mitochondrial DNA mediated by the NALP3 inflammasome

(2010) Kiichi Nakahira et al.   NATURE IMMUNOLOGY

Monocytes in atherosclerosis: subsets and functions

(2010) Kevin J. Woollard et al.   Nature Reviews Cardiology

A Novel Missense Mutation in MVK Associated With MK Deficiency and Dyserythropoietic Anemia

(2010) A. Samkari et al.   PEDIATRICS

Vitamin B12 in Health and Disease

(2010) Fiona O’Leary et al.   Nutrients

Cardiolipin and monolysocardiolipin analysis in fibroblasts, lymphocytes, and tissues using high-performance liquid chromatography–mass spectrometry as a diagnostic test for Barth syndrome

(2009) Riekelt H. Houtkooper et al.   ANALYTICAL BIOCHEMISTRY

Cardiolipin acts as a mitochondrial signalling platform to launch apoptosis

(2009) Zachary T. Schug et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES

The role of cardiolipin in the structural organization of mitochondrial membranes

(2009) Michael Schlame et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES

How I treat ADA deficiency

(2009) H. B. Gaspar et al.   BLOOD

Reversible severe combined immunodeficiency phenotype secondary to a mutation of the proton-coupled folate transporter

(2009) Arturo Borzutzky et al.   CLINICAL IMMUNOLOGY

Adenylate Kinase and AMP Signaling Networks: Metabolic Monitoring, Signal Communication and Body Energy Sensing

(2009) Petras Dzeja et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Glucose-6-phosphatase Catalytic Subunit Gene Family

(2009) John C. Hutton et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A Conserved Serine Residue Is Required for the Phosphatidate Phosphatase Activity but Not the Transcriptional Coactivator Functions of Lipin-1 and Lipin-2

(2009) Jimmy Donkor et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Inborn errors of purine and pyrimidine metabolism

(2009) A. Jurecka   JOURNAL OF INHERITED METABOLIC DISEASE

Enhanced modification of cardiolipin during ischemia in the aged heart

(2009) Edward J. Lesnefsky et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

A Clinical Criterion to Exclude the Hyperimmunoglobulin D Syndrome (Mild Mevalonate Kinase Deficiency) in Patients with Recurrent Fever

(2009) O. STEICHEN et al.   JOURNAL OF RHEUMATOLOGY

Living donor liver transplantation for glycogen storage disease type Ib

(2009) Mureo Kasahara et al.   LIVER TRANSPLANTATION

Mitochondrial gateways to cancer

(2009) Lorenzo Galluzzi et al.   MOLECULAR ASPECTS OF MEDICINE

Pediatric neurological syndromes and inborn errors of purine metabolism

(2009) Marcella Camici et al.   NEUROCHEMISTRY INTERNATIONAL

A Syndrome with Congenital Neutropenia and Mutations inG6PC3

(2009) Kaan Boztug et al.   NEW ENGLAND JOURNAL OF MEDICINE

Neutrophil stress and apoptosis underlie myeloid dysfunction in glycogen storage disease type Ib

(2008) S. Y. Kim et al.   BLOOD

Somatic mosaicism in primary immune deficiencies

(2008) Taizo Wada et al.   Current Opinion in Allergy and Clinical Immunology

Mitochondrial defects lie at the basis of neutropenia in Barth syndrome

(2008) Bram J van Raam et al.   CURRENT OPINION IN HEMATOLOGY

Lentivirus gene therapy for purine nucleoside phosphorylase deficiency

(2008) Pu Liao et al.   JOURNAL OF GENE MEDICINE

On the nomenclature of congenital disorders of glycosylation (CDG)

(2008) J. Jaeken et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Cardiolipin biosynthesis and remodeling enzymes are altered during development of heart failure

(2008) Harjot K. Saini-Chohan et al.   JOURNAL OF LIPID RESEARCH

The Clinical Course and Genetic Defect in the PCFT Gene in a 27-Year-Old Woman with Hereditary Folate Malabsorption

(2008) Sang Hee Min et al.   JOURNAL OF PEDIATRICS

Bone Marrow Transplantation in Glycogen Storage Disease Type 1b

(2008) Germaine Pierre et al.   JOURNAL OF PEDIATRICS

Long-Term Follow-Up, Clinical Features, and Quality of Life in a Series of 103 Patients With Hyperimmunoglobulinemia D Syndrome

(2008) Jeroen C. H. van der Hilst et al.   MEDICINE

Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness

(2008) Chantal Lagresle-Peyrou et al.   NATURE GENETICS

Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2

(2008) Ulrich Pannicke et al.   NATURE GENETICS

Novel mutations of NP in two patients with purine nucleoside phosphorylase deficiency

(2007) Nima Parvaneh et al.   CLINICAL BIOCHEMISTRY

Bloodspot Assay Using HPLC-Tandem Mass Spectrometry for Detection of Barth Syndrome

(2007) W. Kulik et al.   CLINICAL CHEMISTRY