Disease: Severe combined immunodeficiency
- <em>NUDCD3</em> deficiency disrupts V(D)J recombination to cause SCID and Omenn syndrome
- <em>Pneumocystis murina</em> lesions in lungs of experimentally infected Cd40l<sup>-/-</sup> mice
- 18q Deletion Syndrome Presenting with Late-Onset Combined Immunodeficiency
- A case of T-cell acute lymphoblastic leukemia in retroviral gene therapy for ADA-SCID
- A Clinical Neurological Approach to the Child With Adenosine Deaminase Deficiency
- A combined immune and inflammatory indicator predict the prognosis of severe Pneumocystis jirovecii pneumonia patients: a 12-year, retrospective, observational cohort
- A heterocyclic compound inhibits viral release by inducing cell surface BST2/Tetherin/CD317/HM1.24
- A large single-center cohort of bare lymphocyte syndrome: Immunological and genetic features in Turkey
- A new neonatal BCG vaccination pathway in England: a mixed methods evaluation of its implementation
- A novel MALT1 variant in an Egyptian patient presenting with exfoliative dermatitis: a case-based review
- A rare disease: ZAP70 deficiency
- A Unique Comprehensive Model to Screen Newborns for Severe Combined Immunodeficiency-An Ontario Single-Centre Experience Spanning 2013-2023
- Adenosine Deaminase (ADA)-Deficient Severe Combined Immunodeficiency Unmasked by Persistent Lymphopenia and Prolonged Severe SARS-CoV-2 Infection in a Three-Week-Old Neonate
- Advances in gene therapy for inborn errors of immunity
- Advancing gene targeting for primary immune deficiencies: Adenine base editing of the human IL2RG locus for correction of SCID-X1
- Allogeneic Hematopoietic Stem Cell Transplantation in Immunodeficiency-Centromeric Instability-Facial Dysmorphism (ICF) Syndrome: an EBMT/ESID Inborn Errors Working Party Study
- Alpharetroviral vector-mediated gene therapy for IL7RA deficient SCID
- Analysis of efficacy and prognosis of allogeneic hematopoietic stem cell transplantation for the treatment of combined immunodeficiency
- Applications of Organoids in Advancing Drug Discovery and Development
- Artemis deficiency: A large cohort including a novel variant with increased radiosensitivity
- Association of Busulfan Exposure and Outcomes after HCT for Patients with an Inborn Error of Immunity
- ATAXIA-telangiectasia with compound heterozygous ATM mutations discovered on abnormal newborn screen
- Biotin labeling allows for post-transfusion functional assessment of stored human platelets in mice
- Bone Marrow Mesenchymal Stem Cells Promote Ovarian Cancer Cell Proliferation via Cytokine Interactions
- Brown Adipose Tissue as a Unique Niche for Islet Organoid Transplantation: Insights From In Vivo Imaging
- Case Report: Profound newborn leukopenia related to a novel RAC2 variant
- Combined treatment with allogeneic Epstein-Barr- and human polyomavirus 1 specific T-cells in progressive multifocal leukoencephalopathy and EBV infection: a case report
- Comparative analysis of genomic characteristics and immune response between Mycobacterium tuberculosis strains cultured continuously for 25 years and H37Rv
- Complement C1s deficiency in a male Caucasian patient with systemic lupus erythematosus: a case report
- Cutaneous legionellosis in an immunocompromised neonate
- CXCR4 WHIM syndrome is a cancer predisposition condition for virus-induced malignancies
- Development of a novel rodent model for dog heartworm microfilaremia using the severe-combined immunodeficiency mouse
- Development of chimeric antigen receptor (CAR)-T cells targeting A56 viral protein implanted by oncolytic virus
- Diagnostic yield of next-generation sequencing in suspect primary immunodeficiencies diseases: a systematic review and meta-analysis
- Discovery of pathogenic variants in EFEMP2 and RAG1 and undetectable fetal phenotype: A challenge of prenatal exome sequencing
- Disruption of cyclin D1 degradation leads to the development of mantle cell lymphoma
- Disseminated Bacillus Calmette-Guerin Infection: The Harbinger of Severe Combined Immunodeficiency Disease
- Establishment of a humanized mouse model of HIV-1 infection and quantification of integrated HIV proviral DNA <em>in vivo</em>
- Expanded Newborn Screening for Inborn Errors of Immunity: The Experience of Tuscany
- Expanded Scope of Bacillus Calmette-Guerin (BCG) Vaccine Applicability in Disease Prophylaxis, Diagnostics, and Immunotherapeutics
- Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome
- Fatal Disseminated Hepatitis E in an Adult Patient with IKBKB GOF Mutation
- Flow cytometry-based diagnostic approach for inborn errors of immunity: experience from Algeria
- Gastrointestinal system involvement in patients with primary immunodeficiency: a single center experience
- HIV and COVID-19: two pandemics with significant (but different) central nervous system complications
- Human DNA-dependent protein kinase catalytic subunit deficiency: a comprehensive review and update
- Identification and Functional Analysis of a de novo IKZF3 Mutation in a Pediatric Patient with Combined Immunodeficiency
- Idiopathic pulmonary hemosiderosis associated with Kabuki syndrome
- Immuno-targeting the ectopic phosphorylation sites of PDGFRA generated by MAN2A1-FER fusion in HCC
- Immunodeficiency-Related Vaccine-Derived Poliovirus (iVDPV) Excretion in an Infant with Severe Combined Immune Deficiency with Spillover to a Parent
- Inborn Errors of Immunity
- Inborn Errors of Immunity in Jordan: First Report from a Tertiary Referral Center
- Increased mortality in infants with abnormal T-cell receptor excision circles
- Insights into Patient Experiences with Facilitated Subcutaneous Immunoglobulin Therapy in Primary Immune Deficiency: A Prospective Observational Cohort
- MCP5, a methyl-accepting chemotaxis protein regulated by both the Hk1-Rrp1 and Rrp2-RpoN-RpoS pathways, is required for the immune evasion of <em>Borrelia burgdorferi</em>
- MHC class II deficiency: Clinical, immunological, and genetic insights in a large multicenter cohort
- MLH1 Inhibits Metastatic Potential of Pancreatic Ductal Adenocarcinoma via Downregulation of GPRC5C
- Multiplex Real-Time PCR-Based Newborn Screening for Severe Primary Immunodeficiency and Spinal Muscular Atrophy in Osaka, Japan: Our Results after 3 Years
- Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns
- Newborn Screening Today and Tomorrow: A Brief Report from the International Primary Immunodeficiencies Congress
- Novel Mutation in the Moesin (MSN) Gene Leads to Immunodeficiency with Epstein-Barr Virus (EBV) Infection and Dermatomyositis-Like Symptoms
- Novel Presentation of Major Histocompatibility Complex Class II Deficiency with Hemophagocytic Lymphohistiocytosis
- Novel Synonymous Variant in IL7R Causes Preferential Expression of the Soluble Isoform
- Omenn Syndrome can Occur during Enzyme Therapy for Adenosine Deaminase Deficiency
- Omenn Syndrome in Two Infants with Different Hypomorphic Variants in Janus Kinase 3
- Opening SCID newborn screening for novel exon genetic variants through whole-exome sequencing in China
- Packaging of supplemented urokinase into alpha granules of in vitro-grown megakaryocytes for targeted nascent clot lysis
- Parental Engagement in Identifying Information Needs After Newborn Screening for Families of Infants with Suspected Athymia
- Paving the way in implementation of SCID newborn screening in developing nations: feasibility study and strategies to move forward in Malaysia
- PAX1 represses canonical Wnt signaling pathway and plays dual roles during endoderm differentiation
- Pharmacokinetics of Briquilimab as a Conditioning Agent for Hematopoietic Stem Cell Transplantation in Patients With Severe Combined Immunodeficiency, Myelodysplastic Syndrome, or Acute Myeloid Leukemia
- Phenotypic spectrum in a family with a novel <em>RAC2</em> p.I21S dominant-activating mutation
- Photo-metallo-immunotherapy: Fabricating Chromium-Based Nanocomposites to Enhance CAR-T Cell Infiltration and Cytotoxicity against Solid Tumors
- Probiotic treatment with viable α-galactosylceramide-producing Bacteroides fragilis reduces diabetes incidence in female nonobese diabetic mice
- Promotion of perineural invasion of cholangiocarcinoma by Schwann cells via nerve growth factor
- Quality considerations and major pitfalls for high throughput DNA-based newborn screening for severe combined immunodeficiency and spinal muscular atrophy
- Rapamycin Controls Lymphoproliferation and Reverses T-Cell Responses in a Patient with a Novel STIM1 Loss-of-Function Deletion
- Rare and severe adverse events in children with inflammatory bowel disease: analysis of data from the PIBD-SETQuality Safety Registry
- Recessively Inherited Deficiency of Secreted WFDC2 (HE4) Causes Nasal Polyposis and Bronchiectasis
- Reconstitution of norovirus-specific T cell responses following hematopoietic stem cell transplantation in patients with inborn errors of immunity and chronic norovirus infection
- Relevant cutaneous manifestations as indications for inborn errors of immunity
- Restoration of T and B Cell Differentiation after RAG1 Gene Transfer in Human RAG1 Defective Hematopoietic Stem Cells
- Restoration of T and B cell generation in X-linked severe combined immunodeficiency mice through adenine base editing of hematopoietic stem cells
- Restoring T and B cell generation in X-linked severe combined immunodeficiency mice through hematopoietic stem cells adenine base editing
- Secondary bone marrow graft loss after third-party virus-specific T cell infusion: Case report of a rare complication
- Severe Combined Immunodeficiency from a Homozygous DNA Ligase 1 Mutant with Reduced Catalytic Activity but Increased Ligation Fidelity
- Severe Gastrointestinal Cytomegalovirus Infection in a Patient Diagnosed with Late Onset Combined Immunodeficiency
- Severe Lactic Acidosis Due to Inappropriate Use of Biktarvy in a Patient With AIDS
- SIRT1 promotes doxorubicin-induced breast cancer drug resistance and tumor angiogenesis via regulating GSH-mediated redox homeostasis
- Store-operated calcium entry dysfunction in CRAC channelopathy: Insights from a novel STIM1 mutation
- Successful bone marrow transplantation in a patient with Omenn syndrome, a rare variant of severe combined immunodeficiency syndrome: A case report
- Successful treatment of severe and recurrent hand eczema with infection in human immunodeficiency virus patients: A case report
- Survival After Hematopoietic Stem Cell Transplantation in Severe Combined Immunodeficiency (SCID): A Worldwide Review of the Prognostic Variables
- The complex nature of CXCR4 mutations in WHIM syndrome
- The Tumor Growth Inhibitory Effect of a Standardized Extract of Cultured Lentinula edodes Mycelia Using Patient Derived Xenograft Model
- Treatment of plaque-psoriasis in HIV-positive patients
- Treatment with Elapegademase Restores Immunity in Infants with Adenosine Deaminase Deficient Severe Combined Immunodeficiency
- Truncating NFKB1 variants cause combined NLRP3 inflammasome activation and type I interferon signaling and predispose to necrotizing fasciitis
- Utilization of next-generation sequencing to define the role of heterozygous FOXN1 variants in immunodeficiency
- X-linked severe combined immunodeficiency complicated by disseminated bacillus Calmette-Guerin disease caused by a novel pathogenic mutation in exon 3 of the IL2RG gene: a case report and literature review