Publication
Présentations
CEREDIH_Journee_20201211_Diapos_AF_NMAlain Ficher & Nizar Mahlaoui CEREDIH_Journee_20201212_COVID19_PID_Meyts
Isabelle Meyts CEREDIH_Journee_20201212_DIHactualites_Picard
Capucine Picard
Journée CEREDIH 11/12/2020
Publications des équipes du CEREDIH
Dupilumab in atopic-dermatitis-like eczema associated with inborn errors of immunity: A nationwide studyGuillemin C et al.2024
J Am Acad Dermatol Pregnancy in Primary Immunodeficiency Diseases: the PREPI Study
Mallart E et al.
J Allergy Clin Immunol Late-onset enteric virus infection associated with hepatitis (EVAH) in transplanted SCID patients
Riller Q et al.
J Allergy Clin Immunol Current Transition Practice for Primary Immunodeficiencies and Autoinflammatory Diseases in Europe: a RITA-ERN Survey
Israni M et al.
J Clin Immunol Hematopoietic cell transplantation in severe combined immunodeficiency: The SCETIDE 2006-2014 European cohort
Lankester AC et al.2022
J Allergy Clin Immunol The PID Life Index: an interactive tool to measure the status of the PID healthcare environment in any given country
Solis L et al.2022
Orphanet J Rare Dis An appraisal of the frequency and severity of noninfectious manifestations in primary immunodeficiencies: A study of a national retrospective cohort of 1375 patients over 10 years
Alligon M et al.2022
J Allergy Clin Immunol Hematopoietic stem cell transplantation for adolescents and adults with inborn errors of immunity, an EBMT IEWP study
Albert MH et al.2022
Blood Gain-of-function IKZF1 variants in humans cause immune dysregulation associated with abnormal T/B cell late differentiation
Hoshino A et al2022
Sci Immunol Newborn screening as a fully integrated system to stimulate equity in neonatal screening in Europe
Scarpa M et al2022
Lancet Reg Health Eur PUBLICATIONS du CEREDIH
EQUIPES DU CEREDIH2022
PubMed The PID Principles of Care: Where Are We Now? A Global Status Report Based on the PID Life Index
Nordin J et al2021
Front Immunol Phenotype, genotype, treatment, and survival outcomes in patients with X-linked inhibitor of apoptosis deficiency
Yang Y et al.2021
J Allergy Clin Immunol Coronavirus disease 2019 in patients with inborn errors of immunity: An international study
Meyts I et al2021
J Allergy Clin Immunol Infections in Patients with Chronic Granulomatous Disease Treated with Tumor Necrosis Factor Alpha Blockers for Inflammatory Complications
Conrad A et al2021
J Clin Immunol Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations
Thalhammer J et al.2021
J Allergy Clin Immunol Chronic Granulomatous Disease With the McLeod Phenotype: A French National Retrospective Case Series
Lhomme F et al.2020
J Clin Immunol Impact of intravenous and subcutaneous immunoglobulins on false positivity of galactomannan and beta-D-glucan antigenemia and detection of circulating Aspergillus fumigatus DNA
Bougnoux ME et al2020
Clin Microbiol Infect First heterozygous NOP10 mutation in Familial Pulmonary Fibrosis.
Kannengiesser C et al2020
Eur Resp J Skin-specific antibodies neutralizing mycolactone toxin during the spontaneous healing of Mycobacterium ulcerans infection
Foulon M et al2020
Sci Adv Herpes simplex virus encephalitis of childhood: inborn errors of central nervous system cell-intrinsic immunity
Zhang SY2020
Hum Genet Aspergillus felis in Patient with Chronic Granulomatous Disease
Paccoud O et al2019
Emerg. Infect. Dis. Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic form of recurrent respiratory papillomatosis
Drutman SB et al.2019
Proc Natl Acad Sci U S A. A 1-Year Prospective French Nationwide Study of Emergency Hospital Admissions in Children and Adults with Primary Immunodeficiency
Coignard-Biehler H et al2019
J Clin Immunol LINE-1-Mediated AluYa5 Insertion Underlying Complete Autosomal Recessive IFN-γR1 Deficiency
Rosain J et al2019
J Clin Immunol Disseminated Mycobacterial Disease in a Patient with 22q11.2 Deletion Syndrome: Case Report and Review of the Literature
Hoyos-Bachiloglu R et al2019
J Clin Immunol A deep intronic splice mutation of STAT3 underlies hyper IgE syndrome by negative dominance
Khourieh J et al2019
Proc Natl Acad Sci U S A. Candidate predisposition variants in Kaposi sarcoma as detected by whole-genome sequencing
Rinne SJ et al2019
Open Forum Infectious Diseases Platelets are the Achilles' heel of Wiskott-Aldrich syndrome
Fischer A2019
J Allergy Clin Immunol Inherited IFNAR1 deficiency in otherwise healthy patients with adverse reaction to measles and yellow fever live vaccines
Hernandez N et al2019
J Exp Med Impaired telomere integrity and rRNA biogenesis in PARN-deficient patients and knock-out models
Benyelles M et al2019
EMBO Mol Med The NEW ESID Online Database Network
Scheible R et al2019
Bioinformatics The nature of human IL-6
Puel A & Casanova JL2019
J Exp Med Successful Allogenic Stem Cell Transplantation in Patients with Inherited CARD9 Deficiency
Queiroz-Telles F et al2019
J Clin Immunol Severe influenza pneumonitis in children with inherited TLR3 deficiency
Lim HK et al2019
J Exp Med Inherited IL-18BP deficiency in human fulminant viral hepatitis
Belkaya S et al2019
J Exp Med A Severe Neonatal Lymphopenia Associated With Administration of Azathioprine to the Mother in a Context of Crohn's Disease
Thomas C et al2019
J Crohns Colitis Somatic genetic rescue in Mendelian haematopoietic diseases
Revy P et al2019
Nat Rev Genet Traitement du PTI et de l’AHAI au cours du DICV : revue systématique de la littérature
Lacombe V et al2019
Rev Med Interne SeqTailor: a user-friendly webserver for the extraction of DNA or protein sequences from next-generation sequencing data
Zhang P et al2019
Nucleic Acid Re Homozygosity for TYK2 P1104A underlies tuberculosis in about 1% of patients in a cohort of European ancestry
Kerner G et al2019
Proc Natl Acad Sci U S A. Recurrent Salmonella typhi Infection and Autoimmunity in a Young Boy with Complete IL-12 Receptor β1 Deficiency
Jindal AK et al2019
J Clin Immunol Human inborn errors of immunity to infection affecting cells other than leukocytes: from the immune system to the whole organism
Zhang SY et al2019
Current Opin Immunol Life-Threatening Infections Due to Live-Attenuated Vaccines: Early Manifestations of Inborn Errors of Immunity
Pöyhönen L et al2019
J Clin Immunol Outcomes of Salvage Haploidentical Transplant with Post-transplant Cyclophosphamide for Rescuing Graft Failure Patients
Prata PH et al2019
Biol Blood Marrow Transplant Hematopoietic Stem Cell Transplant for the Treatment of X-MAID
Henrickson SE et al2019
Front Pediatr Non-Aspergillus Fungal Infections in Chronic Granulomatous Disease
Guery R et al.2019
Current Fungal Infection Reports Functional classification of ATM variants in Ataxia-Telangiectasia patients
Fiévet A et al2019
Hum Mutat Hematopoietic stem cell transplant effectively rescues lymphocyte differentiation and function in DOCK8-deficient patients
Pillay BA et al2019
JCI Insight Ttc7a regulates haematopoietic stem cell functions while controlling the stress-induced response
Leveau C et al2019
Haematologica Life-threatening pulmonary interstitial lung disease complicating pediatric non-humoral immunodeficiencies
Al Farsi T et al2019
J Allergy Clin Immunol in pract Pediatric Evans syndrome is associated with a high frequency of potentially damaging variants in immune genes
Hadjadj J et al2019
Blood Clinical and economic aspects of NBS for SCID: DEPISTREC study results
Thomas C et al2019
Clin Immunol Conséquences pathologiques d’un excès d’interféron in vivo
Lebon P et al2019
Med Sci (Paris) Why are so many cases of invasive aspergillosis missed?
Danion F et al2019
Med Mycol. Dimethyl Fumarate Disrupts Human Innate Immune Signaling by Targeting the IRAK4-MyD88 Complex
Zaro BW et al2019
J Immunol Spectrum of pulmonary aspergillosis in Hyper IgE syndrome with autosomal dominant STAT3 deficiency
Duréault A et al2019
J Allergy Clin Immunol in pract Outcomes and treatment strategies for autoimmunity and hyperinflammation in patients with RAG deficiency
Farmer JR et al2019
J Allergy Clin Immunol in pract Haploidentical HSCT with post-transplant CY for primary immunodeficiencies and inherited disorders in children
Neven B et al2019
Biol Blood Marrow Transplant Cernunnos/Xlf Deficiency Results in Suboptimal V(D)J Recombination and Impaired Lymphoid Development in Mice
Roch B et al2019
Front Immunol Cutaneous granulomas with primary immunodeficiency in children: a report of 17 new patients and a review of the literature
Leclerc-Mercier S et al2019
J Eur Acad Dermatol Venereol. Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseases
Li Y et al2019
Proc Natl Acad Sci U S A. Human DOCK2 Deficiency: Report of a Novel Mutation and Evidence for Neutrophil Dysfunction
Moens L et al2019
J Clin Immunol Genotype-phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutations
van Os N et al2019
J Med Genet Approach to recurrent Herpes Simplex Encephalitis in children
Alsweed A et al2019
Int J Pediatr Adolesc Med. Inherited Interleukin 2-Inducible T-Cell (ITK) Kinase Deficiency in Siblings With Epidermodysplasia Verruciformis and Hodgkin Lymphoma
Youssefian L et al2019
Clin Infect Dis The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity
Seidel MG et al2019
J Allergy Clin Immunol in pract Increased proportions of γδ T lymphocytes in atypical SCID associate with disease manifestations
Tometten I et al2019
Clin Immunol A combined immunodeficiency with severe infections, inflammation and allergy caused by ARPC1B deficiency
Volpi S et al2019
J Allergy Clin Immunol CHRONIC GRANULOMATOUS DISEASE: AN UNREPORTED MUTATION
Kiat M et al2019
PEDIATRIC INFECTIOUS DISEASE SOCIETY OF THE PHILIPPINES Double-strand break repair through homologous recombination in autosomal-recessive BCL10 deficiency
Garcia-Gomez S et al2019
J Allergy Clin Immunol Molecular, Immunological, and Clinical Features of 16 Iranian Patients with Mendelian Susceptibility to Mycobacterial Disease
Sarrafzadeh2019
J Clin Immunol A Novel Recessive Mutation of Interferon-γ Receptor 1 in a Patient with Mycobacterium tuberculosis in Bone Marrow Aspirate
Shabani M et al2019
J Clin Immunol Vaccination of children (Editorial)
Fischer A2019
Arch Ped An essential role for the Zn2+ transporter ZIP7 in B cell development
Anzilotti C et al2019
Nat Immunol Pseudo-Sarcoidosis Revealing MonoMAC Syndrome
Damian L et al2019
J Clin Immunol Synergistic convergence of microbiota-specific systemic IgG and secretory IgA
Fadlallah J et al2019
J Allergy Clin Immunol Kaposi's sarcoma-associated herpesvirus/human herpesvirus 8 associated lymphoproliferative disorders
Oksenhendler E et al2019
Blood Successful in utero stem cell transplantation in X-linked severe combined immunodeficiency
Magnani A et al2019
Blood Adv. Combined liver and hematopoietic stem cell transplantation in X-linked hyper IgM syndrome
Bucciol G et al2019
J Allergy Clin Immunol Outcomes for Nitazoxanide Treatment in a Case Series of Patients with Primary Immunodeficiencies and Rubella Virus-Associated Granuloma
Perelygina L et al2019
J Clin Immunol Neurological Involvement in Childhood Evans Syndrome
Pincez T et al2019
J Clin Immunol Lymphoproliferative Disease in Wiskott-Aldrich Syndrome. Analysis of the French Registry of Primary Immunodeficiencies
Cheminant M et al2019
J Allergy Clin Immunol Hematopoietic stem cell transplantation for CD40 ligand deficiency: results from an EBMT/ESID-IEWP-SCETIDE-PIDTC Study
Ferrua F et al2019
J Allergy Clin Immunol Genetic diagnosis of primary immunodeficiencies: a survey of the French national registry
Mahlaoui N et al2019
J Allergy Clin Immunol ALPS-FAS PATIENTS HAVE AN ABNORMAL REGULATORY T CELL PHENOTYPE BUT DISPLAY NORMAL nTREG SUPPRESSIVE FUNCTION ON T CELL PROLIFERATION
Mazerolles F et al2018
Front Immunol Corrigendum: IRAK4 Deficiency in a Patient with Recurrent Pneumococcal Infections: Case Report and Review of the Literature.
Gobin KS2018
Front Pediatr Laboratory evaluation of the IFN-γ circuit for the molecular diagnosis of Mendelian susceptibility to mycobacterial disease
Esteve-Solé A et al2018
Crit Rev Clin Lab Sci. Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection
Zhang SY2018
Cell Hematopoietic stem cell gene therapy for IFNγR1 deficiency protects mice from mycobacterial infections.
Hetzel M et al2018
Blood IRF4 haploinsufficiency in a family with Whipple's disease
Guerin A et al2018
Elife Kinesin-1: A New Actor Involved in Platelet Secretion and Thrombus Stability
Adam F et al.2018
Arterioscler Thromb Vasc Biol Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study
Barzaghi F et al2018
J Allerg Clin Immunol Disease evolution and response to rapamycin in Activated PI3Kδ Syndrome: the ESID-APDS registry
Maccari M.E. et al.2018
Front Immunol A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon
Oleaga-Quintas C et al2018
Hum Mol Genet STAT1 Gain-of-Function and Dominant Negative STAT3 Mutations Impair IL-17 and IL-22 Immunity Associated with CMC
Hiller J et al2018
J Invest Dermatol Disseminated Spiroplasma apis Infection in Patient with Agammaglobulinemia, France
Etienne N et al2018
Emerg Infect Dis. Human TANK-binding kinase 1 is required for early autophagy induction upon herpes simplex virus 1 infection
Ahmad L et al2018
J Allergy Clin Immunol Arid5a makes the IL-17A/F-responsive pathway less arid
Puel A et Casanova JL2018
Sci Signal A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon
Oleaga-Quintas C et al2018
Hum Mol Genet Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis
Maffucci P et al2018
Proc Natl Acad Sci U S A Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies
Mafucci P et al2018
J Clin Invest A CIB1 Splice-site Founder Mutation in Families with Typical Epidermodysplasia Verruciformis
Vahidnezhad H et al2018
J Invest Dermatol PopViz: a webserver for visualizing minor allele frequencies and damage prediction scores of human genetic variations
Zhang P et al2018
Bioinformatics Human IFN-γ immunity to mycobacteria is governed by both IL-12 and IL-23
Martínez-Barricarte R et al2018
Sci Immunol Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common TYK2 missense variant
Boisson-Dupuis S et al2018
Sci Immunol IFN-γ and CD25 drive distinct pathologic features during hemophagocytic lymphohistiocytosis
Humblet-Baron S et al2018
J Allergy Clin Immunol Immune/microbial interface perturbation in human IgA deficiency
Sterlin D et al2018
Gut Microbes Campylobacter infection in adult patients with primary antibody deficiency.
Dion J et al2018
J Allergy Clin Immunol in pract A comprehensive analysis of Lymphoma-associated haemophagocytic syndrome in a large French multicentre cohort detects some clues to improve prognosis
Bigenwald C et al2018
Br J Haematol Disruption of Coronin 1 Signaling in T Cells Promotes Allograft Tolerance while Maintaining Anti-Pathogen Immunity.
Jayachandran R et al2018
Immunity Successful haematopoietic stem cell transplantation in a case of pulmonary alveolar proteinosis due to GM-CSF receptor deficiency
Frémond ML et al2018
Thorax Current Understanding and Future Research Priorities in Malignancy Associated With Inborn Errors of Immunity and DNA Repair Disorders: The Perspective of an Interdisciplinary Working Group
Bomken S et al2018
Font. Immunol Rubella Virus-Associated Cutaneous Granulomatous Disease: a Unique Complication in Immune-Deficient Patients, Not Limited to DNA Repair Disorders
Buchbinder D et al2018
J Clin Immunol Epstein-Barr Virus (EBV)-Related Lymphoproliferative Disorders in Ataxia Telangiectasia: Does ATM Regulate EBV Life Cycle?
Tafti M, Hermine O et Suarez F2018
Front. Immmunol FAS and RAS related Apoptosis defects: From autoimmunity to leukemia
Meynier S et Rieux-Laucat F2018
Immunol Rev Synergistic convergence of microbiota-specific systemic IgG and secretory IgA
Fadlallah J et al2018
J Allergy Clin Immunol Progressive Multifocal Leukoencephalopathy in Primary Immunodeficiencies
Hadjadj J et al2018
J Clin Immunol Tetratricopeptide repeat domain 7A is a nuclear factor that modulates transcription and chromatin structure
El-Daher MT et al2018
Cell Discov Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency
Boisson B et al2018
J Clin Invest JAK 1/2 Blockade in MDA5 Gain-of-Function
McLellan KE et al2018
J Clin Immunol Hematopoietic stem cell transplantation as treatment for patients with DOCK8 deficiency
Aydin SE et al.2018
J Allergy Clin Immunol Pract Clinical Heterogeneity of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome: A French Multicenter Retrospective Study
Duclaux-Loras R et al2018
Clin Transl Gastroenterol AD Hyper-IgE Syndrome Due to a Novel Loss-of-Function Mutation in STAT3: a Diagnostic Pursuit Won by Clinical Acuity
Moens L et al.2018
J Clin Immunol Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies.
Maffucci P et al.2018
J Clin Invest Somatic alterations compromised molecular diagnosis of DOCK8 hyper-IgE syndrome caused by a novel intronic splice site mutation
Hagl B et al2018
Sci Rep Reactivation of dormant/latent fungal infection
Brunet K et al2018
J Infect A CARD9 Founder Mutation Disrupts NF-κB Signaling by Inhibiting BCL10 and MALT1 Recruitment and Signalosome Formation
De Bruyne M et al.2018
Front. Immmunol The burden of common variable immunodeficiency disorders: a retrospective analysis of the European Society for Immunodeficiency (ESID) registry data
Odnoletkova I et al2018
Orphanet Journal of Rare Diseases OL-EDA-ID Syndrome: a Novel Hypomorphic NEMO Mutation Associated with a Severe Clinical Presentation and Transient HLH
Ricci S et al2018
J Clin Immunol Clinical Assessment of a Nocardia PCR-Based Assay for Diagnosis of Nocardiosis
Rouzaud C et al2018
J Clin Microbiol Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond-like syndrome
Bellanné-Chantelot C et al2018
Blood Copy number variations and founder effect underlying complete IL-10Rβ deficiency in Portuguese kindreds
Charbit-Henrion F et al2018
Plos One Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome
Gayden T et al2018
Nat Genet Intestinal dysbiosis in Inflammatory Bowel Disease associated with primary immunodeficiency.
Sokol H et al2018
J Allergy Clin Immunol Daratumumab in life-threatening autoimmune hemolytic anemia following hematopoietic stem cell transplantation
Schuetz C et al2018
Blood Adv. Efficacy of JAK1/2 inhibition in the treatment of chilblain lupus due to TREX1 deficiency
Briand C et al2018
Ann Rheum Dis Mendelian susceptibility to mycobacterial disease: 2014-2018 update
Rosain J et al2018
Immunol Cell Biol Early-Onset Invasive Infection Due to Corynespora cassiicola Associated with Compound Heterozygous CARD9 Mutations in a Colombian Patient
Arango-Franco CA et al2018
J Clin Immunol T cell dynamics and response of the microbiota after gene therapy to treat X-linked severe combined immunodeficiency
Clarke EL et al.2018
Genome Med T cell defects in patients with ARPC1B germline mutations account for their combined immunodeficiency.
Brigida I et al2018
Blood Newborn Screening for Severe Combined Immunodeficiency: Analytic and Clinical Performance of the T Cell Receptor Excision Circle Assay in France (DEPISTREC Study)
Audrain M et al2018
J Clin Immunol Varicella-zoster virus CNS vasculitis and RNA polymerase III gene mutation in identical twins
Carter-Timofte ME et al2018
Neurol Neuroimmunol Neuroinflamm Interest of immunodeficiency screening in adult after admission in medical intensive care unit for severe infection, a retrospective and a prospective study (ICUSPID)
Baldolli A et al2018
Infection Chronic granulomatous skin lesions leading to a diagnosis of TAP1 deficiency syndrome
Law-Ping-Man S et al2018
Pediatr Dermatol A Brief Historical Perspective on the Pathological Consequences of Excessive Type I Interferon Exposure In vivo
Crow YJ et al2018
J Clin Immunol A 44 year old female with overwhelming sepsis
Seligman SJ et al2018
Clin Infect Dis Innate Lymphoid Cells: 10 Years On
Vivier E et al2018
Cell Inherited CARD9 Deficiency: Invasive Disease Caused by Ascomycete Fungi in Previously Healthy Children and Adults
Corvilain E et al2018
J Clin Immunol Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency
Hernandez N et al2018
J Exp Med Diagnostics of rare disorders: whole-exome sequencing deciphering locus heterogeneity in telomere biology disorders
Trotta L et al2018
Orphanet J Rare Dis Mechanism of dysfunction of human variants of the IRAK4 kinase and a role for its kinase activity in interleukin-1 receptor signaling
De S et al2018
J Biol Chem. Proinflammatory cytokine response toward fungi but not bacteria in chronic granulomatous disease
Gazendam RP et al2018
J Allergy Clin Immunol Disruption of an antimycobacterial circuit between dendritic and helper T cells in human SPPL2a deficiency
Kong XF et al2018
Nat Immunol Treatment dilemmas in asymptomatic children with primary haemophagocytic lymphohistiocytosis
Lucchini G et al2018
Blood Human hyper-IgE syndrome: singular or plural?
Zhang Q et al2018
Mamm Genome Long-term follow-up of an Activated PI3K-δ Syndrome 2 patient presenting with an agammaglobulinemia phenotype
Nguyen Y et al2018
Ann Allergy Asthma Immunol A Novel Homozygous Mutation With Different Clinical Presentations in 2 IRAK-4-Deficient Siblings: First Case With Recurrent Salmonellosis and Non-Hodgkin Lymphoma
Gokturk B et al2018
J Allerg Clin Immunol Lessons learned from the study of human inborn errors of innate immunity
Bucciol G et al2018
J Allerg Clin Immunol Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons
Bolze A et al2018
Proc Natl Acad Sci U S A The human CIB1–EVER1–EVER2 complex governs keratinocyte-intrinsic immunity to β-papillomaviruses
de Jong SJ et al 2018
J Exp Med Epidermodysplasia verruciformis: Genetic heterogeneity and novel EVER1 and EVER2 mutations revealed by genome-wide analysis
Youssefian L et al2018
J Invest Dermatol A case of reversible pulmonary arterial hypertension associated with incontinentia pigmenti
Atallah V et al2018
Pulm Circ Severe BCG-osis Misdiagnosed as Multidrug-Resistant Tuberculosis in an IL-12Rβ1-Deficient Peruvian Girl
Esteve-Sole A et al2018
J Clin Immunol Outcome of haematopoietic stem cell transplantation in dyskeratosis congenita
Fioredda F et al2018
Br J Haematol A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency
Rosain J et al2018
J Clin Immunol T-Cell Receptor Excision Circles in HIV-Exposed, Uninfected Newborns Measured During a National Newborn Screening Program for Severe Combined Immunodeficiency
Warszawski J et al2018
J Pediatr Outcome of domino hematopoietic stem cell transplantation in humans - an international case series
Belderbos ME et al.2018
J Allerg Clin Immunol Epidermodysplasia Verruciformis: Inborn Errors of Immunity to Human Beta-Papillomaviruses
de Jong SJ et al2018
Front Microbiol. Novel IL2RG Mutation Causes Leaky TLOWB+NK+ SCID With Nodular Regenerative Hyperplasia and Normal IL-15 STAT5 Phosphorylation
Neves JF et al2018
J Pediatr Hematol Oncol CDG: An Online Server for Detecting Biologically Closest Disease-Causing Genes and its Application to Primary Immunodeficiency
Requena D et al2018
Front. Immunol. TTC7A mutation must be considered in patients with repeated intestinal atresia associated with early inflammatory bowel disease: Two new case reports and a literature review
Fayard J et al2018
Arch Ped The Autoimmune Lymphoproliferative Syndrome with Defective FAS or FAS-Ligand Functions
Rieux-Laucat F et al2018
J Clin Immunol A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity
Béziat V et al2018
Sci Immunol ZNF341 controls STAT3 expression and thereby immunocompetence
Frey-Jakobs S et al2018
Sci Immunol Efficacy of oral sirolimus as salvage therapy in refractory lichen planus associated with immune deficiency
Mahévas T et al2018
Br J Dermatol Genetic screening of male patients with primary hypogammaglobulinemia can guide diagnosis and clinical management
Vince N et al2018
Send to Hum Immunol Microbial ecology perturbation in human IgA deficiency
Fadlallah J et al2018
Sci Transl Med Dominant-negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency
Boutboul D et al2018
J Clin Invest Lethal Influenza in Two Related Adults with Inherited GATA2 Deficiency
Sologuren I et al2018
J Clin Immunol Combined Immunodeficiency in Patients With Trichohepatoenteric Syndrome
Vély F et al2018
Front Immunol Long-term management of leukocyte adhesion deficiency type III without hematopoietic stem cell transplantation
Saultier P et al2018
Haematologica STAT3 Gain of Function: A New Kid on the Block in Interstitial Lung Diseases
Fabre A et al2018
Am J Respir Crit Care Med Mucocutaneous IL-17 immunity in mice and humans: host defense vs. excessive inflammation
Li J, Casanova JL & Puel A2018
Mucosal Immunol Autosomal Dominant IFN-γR1 Deficiency Presenting with both Atypical Mycobacteriosis and Tuberculosis in a BCG-Vaccinated South African Patient
Glanzmann B et al2018
J Clin Immunol Model of population pharmacokinetics of cidofovir in immunocompromised children with cytomegalovirus and adenovirus infection
Neant N et al2018
J Antimicrob Chemother Next Generation Phenotyping using narrative reports in a rare disease Clinical Data Warehouse
Garcelon N et al2018
Orphanet J Rare Dis Severe combined immunodeficiency in Sting V154M/WT mice
Bouis D et al2018
J Allerg Clin Immunol PROMIDISalpha: a T cell receptor alpha (TCRalpha) signature associated with 2 immunodeficiencies caused by V(D)J recombination defects
Berland A, Rosain J, Kaltenbach S et al2018
J Allerg Clin Immunol International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity
Picard C et al2018
J Clin Immunol Mendelian Susceptibility to Mycobacterial Disease Caused by a Novel Founder IL12B Mutation in Saudi Arabia
Alodayani AN et al2018
J Clin Immunol A RAB27A duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosis
Grandin V et al2018
Hum Mutat Natural history of GATA2 deficiency in a survey of 79 French and Belgian patients
Donadieu J et al2018
Haematologica Diagnostic Yield of Next-Generation Sequencing in Very Early-Onset Inflammatory Bowel Diseases: A Multicenter Study
Charbit-Henrion F et al2018
J Crohns Colitis Comprehensive molecular diagnosis of Epstein-Barr virus-associated lymphoproliferative diseases using next-generation sequencing
Ono S2018
Int J Hematol Epithelial barrier dysfunction in Desmoglein-1 deficiency
Polivka L et al2018
J Allerg Clin Immunol Microdeletion on chromosome 8p23.1 in a familial form of severe Buruli ulcer.
Vincent QB et al2018
PLoS Negl Trop Dis Diagnostic biologique des déficits immunitaires primitifs
Miot C et al2018
Revue Francophone des Laboratoires Adaptive immunity by convergent evolution
Casanova JL2018
Nat. Rev. Immunol. Comparative methylome analysis of ICF patients identifies heterochromatin loci that require ZBTB24, CDCA7 and HELLS for their methylated state
Velasco G et al.2018
Hum Mol Genet Immunoglobulin G (IgG) and IgG subclass reference intervals in children, using Optilite® reagents
Grunewald O2018
Clin Chem Lab Med Inherited Immunodeficiency : A New Association With Early-Onset Childhood Panniculitis
Bader-Meunier B et al2018
Pediatrics Diagnosis and management of Aspergillus diseases: executive summary of the 2017 ESCMID-ECMM-ERS guideline
Ullmann AJ et al2018
Clin Microbiol Infect Pediatric-onset Evans syndrome: Heterogeneous presentation and high frequency of monogenic disorders including LRBA and CTLA4 mutations
Lévy E et al.2018
Clin Immunol Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency
Boisson B et al2017
J Clin Immunol Disseminated Tuberculosis and Chronic Mucocutaneous Candidiasis in a Patient with a Gain-of-Function Mutation in Signal Transduction and Activator of Transcription 1.
Pedraza-Sánchez S et al2017
Front Immunol Gain-of-Function Mutations in STAT1: A Recently Defined Cause for Chronic Mucocutaneous Candidiasis Disease Mimicking Combined Immunodeficiencies.
Eren Akarcan S et al2017
Case Reports Immunol. Human genetics of infectious diseases: Unique insights into immunological redundancy
Casanova JL, Abel L.2017
Semin Immunol Lymphadenopathy driven by TCR-Vγ8Vδ1 T-cell expansion in FAS-related autoimmune lymphoproliferative syndrome.
Vavassori S et al2017
Blood Adv Type I interferon-mediated autoinflammation due to DNase II deficiency
Rodero MP et al2017
Nat Commun Loss of RASGRP1 in humans impairs T-cell expansion leading to Epstein-Barr virus susceptibility
Winter S et al2017
EMBO Mol Med Successful haematopoietic stem cell transplantation in a case of pulmonary alveolar proteinosis due to GM-CSF receptor deficiency
Frémond ML et al2017
Thorax VALUE OF THE OVERALL PNEUMOCOCCAL POLYSACCHARIDE RESPONSE IN THE DIAGNOSIS OF PRIMARY HUMORAL IMMUNODEFICIENCIES
Lopez B et al.2017
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Pediatrics
Recommandations
Information du CEREDIH, de PERMEDES, d’IRIS relative aux tensions persistantes d’approvisionnement en immunoglobulines des patients atteints de Déficits Immunitaires Héréditaires.CEREDIH + IRIS + PERMEDES