Disease: Severe combined immunodeficiency- atypical
- <em>IL2RG</em> hypomorphic mutation: identification of a novel pathogenic mutation in exon 8 and a review of the literature
- A case of aberrant CD8 T cell-restricted IL-7 signaling with a Janus kinase 3 defect-associated atypical severe combined immunodeficiency
- A case of atypical, complete DiGeorge syndrome without 22q11 mutation
- A Case with Purine Nucleoside Phosphorylase Deficiency Suffering from Late-Onset Systemic Lupus Erythematosus and Lymphoma
- A great disturbance in the force: IL-2 receptor defects disrupt immune homeostasis
- A horse or a zebra? Unusual manifestations of common cutaneous infections in primary immunodeficiency pediatric patients
- A newly found homozygous mutation in recombination activating gene 1 in a patient with leaky severe combined immunodeficiency disorder
- A novel deletion mutation in IL2RG gene results in X-linked severe combined immunodeficiency with an atypical phenotype
- A novel splice donor mutation in DCLRE1C caused atypical severe combined immunodeficiency in a patient with colon lymphoma: case report and literature review
- A prospective study on the natural history of patients with profound combined immunodeficiency: An interim analysis
- A synonymous splice site mutation in IL2RG gene causes late-onset combined immunodeficiency
- A unique STK4 mutation truncating only the C-terminal SARAH domain results in a mild clinical phenotype despite severe T cell lymphopenia: Case report
- Acquired and Innate Immunity Impairment and Severe Disseminated <em>Mycobacterium genavense</em> Infection in a Patient With a NF-κB1 Deficiency
- Acquired and Innate Immunity Impairment and Severe Disseminated Mycobacterium genavense Infection in a Patient With a NF-kappaB1 Deficiency
- Advances and Challenges of the Decade: The Ever-Changing Clinical and Genetic Landscape of Immunodeficiency
- Anal cytological lesions and HPV infection in individuals at increased risk for anal cancer
- Asymptomatic Infant With Atypical SCID and Novel Hypomorphic <em>RAG</em> Variant Identified by Newborn Screening: A Diagnostic and Treatment Dilemma
- Asymptomatic Infant With Atypical SCID and Novel Hypomorphic RAG Variant Identified by Newborn Screening: A Diagnostic and Treatment Dilemma
- Atypical Hemolytic Uremic Syndrome (aHUS) and Adenosine Deaminase (ADA)-Deficient Severe Combined Immunodeficiency (SCID)-Two Diseases That Exacerbate Each Other: Case Report
- Atypical immune phenotype in severe combined immunodeficiency patients with novel mutations in IL2RG and JAK3
- Atypical Omenn Syndrome Due to RAG2 Gene Mutation, a Case Report
- Atypical phenotype of an old disease or typical phenotype of a new disease: deficiency of adenosine deaminase 2
- Atypical SIFD with novel TRNT1 mutations: a case study on the pathogenesis of B-cell deficiency
- BCL10 loss-of-function novel mutation leading to atypical severe combined immunodeficiency
- Biochemical analysis of patients with mutations in MTHFD1 and a diagnosis of methylenetetrahydrofolate dehydrogenase 1 deficiency
- Case report: <em>ETS1</em> gene deletion associated with a low number of recent thymic emigrants in three patients with Jacobsen syndrome
- Case report: A late and isolated presentation of meningoencephalomyelitis uncovers a novel pathogenic variant in the <em>CIITA</em> gene
- Case Report: Interleukin-2 Receptor Common Gamma Chain Defect Presented as a Hyper-IgE Syndrome
- Case report: Rubella virus-induced cutaneous granulomas in a girl with atypical SCID caused by <em>DCLRE1C</em> gene mutations
- Case report: Rubella virus-induced cutaneous granulomas in a girl with atypical SCID caused by DCLRE1C gene mutations
- Challenges in Gene Therapy for Somatic Reverted Mosaicism in X-Linked Combined Immunodeficiency by CRISPR/Cas9 and Prime Editing
- Characterization of Expanded Gamma Delta T Cells from Atypical X-SCID Patient Reveals Preserved Function and IL2RG-Mediated Signaling
- Chronic active Epstein-Barr virus infection as the initial symptom in a Janus kinase 3 deficiency child: Case report and literature review
- Clinical analysis of conjunctival papilloma
- Clinical and Laboratory Factors Affecting the Prognosis of Severe Combined Immunodeficiency
- Clinical, immunological and molecular findings of 8 patients with typical and atypical severe combined immunodeficiency: identification of 7 novel mutations by whole exome sequencing
- Clinical, Immunological, and Molecular Features of Typical and Atypical Severe Combined Immunodeficiency: Report of the Italian Primary Immunodeficiency Network
- Combined Immune Defect in B-Cell Lymphoproliferative Disorders Is Associated with Severe Infection and Cancer Progression
- Compound heterozygous DCLRE1C mutations lead to clinically typical Severe Combined Immunodeficiency presenting with Graft Versus Host Disease
- Cytometric analysis and clinical features in a Moroccan cohort with severe combined immunodeficiency
- DCLRE1C (ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency
- Diagnosis of primary immunodeficiency diseases in pediatric patients hospitalized for recurrent, severe, or unusual infections
- Diagnostic challenge in a series of eleven patients with hyper IgE syndromes
- Diffuse parenchymal lung disease as first clinical manifestation of GATA-2 deficiency in childhood
- DNMT3B deficiency presenting as severe combined immune deficiency: A case report
- Dock2 in the development of inflammation and cancer
- Erratum to: Adenosine Deaminase Deficient Severe Combined Immunodeficiency Presenting as Atypical Haemolytic Uraemic Syndrome
- Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations
- From variant of uncertain significance to likely pathogenic in two siblings with atypical RAG2 Deficiency: a case report and review of the literature
- Gastrointestinal system involvement in patients with primary immunodeficiency: a single center experience
- Generalized Pyoderma Gangrenosum Associated with Ulcerative Colitis: Successful Treatment with Infliximab and Azathioprine
- Genotype and Phenotype of Adenosine Deaminase 2 Deficiency: a Report from Saudi Arabia
- Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome
- Homozygous deletion of RAG1, RAG2 and 5' region TRAF6 causes severe immune suppression and atypical osteopetrosis
- Human DNA-dependent protein kinase catalytic subunit deficiency: a comprehensive review and update
- Hypomorphic function and somatic reversion of DOCK8 cause combined immunodeficiency without hyper-IgE
- Ichtyosiform erythroderma revealing a severe combined immunodeficiency
- Inborn errors of immunity and related microbiome
- Increased proportions of gammadelta T lymphocytes in atypical SCID associate with disease manifestations
- Increased proportions of γδ T lymphocytes in atypical SCID associate with disease manifestations
- Late presenting atypical severe combined immunodeficiency (SCID) associated with a novel missense mutation in DCLRE1C
- Late-onset combined immune deficiency due to LIGIV mutations in a 12-year-old patient
- Late-Onset Combined Immunodeficiency with a Novel IL2RG Mutation and Probable Revertant Somatic Mosaicism
- Long-Term Outcomes of Hematopoietic Stem Cell Transplantation for ZAP70 Deficiency
- Mutational landscape of severe combined immunodeficiency patients from Turkey
- National experience with adenosine deaminase deficiency related SCID in Polish children
- Newborn Screening for SCID and Other Severe Primary Immunodeficiency in the Polish-German Transborder Area: Experience From the First 14 Months of Collaboration
- Novel Compound Heterozygous Mutations in <em>IL-7 Receptor</em> α Gene in a 15-Month-Old Girl Presenting With Thrombocytopenia, Normal T Cell Count and Maternal Engraftment
- Novel Hemizygous IL2RG p.(Pro58Ser) Mutation Impairs IL-2 Receptor Complex Expression on Lymphocytes Causing X-Linked Combined Immunodeficiency
- Omenn Syndrome Presenting with Striking Erythroderma and Extreme Lymphocytosis in a Newborn
- P064 Association Between Crohn's Disease (CD) and Transient IgM and IgG Immunodeficiency-Diagnostic and Management Challenges
- Partial T cell defects and expanded CD56<sup>bright</sup> NK cells in an SCID patient carrying hypomorphic mutation in the IL2RG gene
- Phenotypical heterogeneity in RAG-deficient patients from a highly consanguineous population
- Prevention of Human Lymphoproliferative Tumor Formation in Ovarian Cancer Patient-Derived Xenografts
- Primary Immunodeficiencies with Elevated IgE
- Promotion of perineural invasion of cholangiocarcinoma by Schwann cells via nerve growth factor
- Recent advances in understanding RAG deficiencies
- Recombinase Activating Gene 1 Deficiencies Without Omenn Syndrome May Also Present With Eosinophilia and Bone Marrow Fibrosis
- Reticular Dysgenesis and Mitochondriopathy Induced by Adenylate Kinase 2 Deficiency with Atypical Presentation
- Reticular Dysgenesis: A Rare Immunodeficiency in a Neonate With Cytopenias and Bacterial Sepsis
- Scales of Magt1 Gene: Novel Mutations, Different Presentations
- Severe combined immunodeficiencies and related disorders
- Sirolimus Restores Erythropoiesis and Controls Immune Dysregulation in a Child With Cartilage-Hair Hypoplasia: A Case Report
- Somatic Reversion of a Novel <em>IL2RG</em> Mutation Resulting in Atypical X-Linked Combined Immunodeficiency
- Somatic Reversion of a Novel IL2RG Mutation Resulting in Atypical X-Linked Combined Immunodeficiency
- Successful rescue of a lethal Griscelli syndrome type 2 presenting with neurological involvement and hemophagocytic lymphohistiocytosis: a case report
- T(+) NK(+) IL-2 Receptor gamma Chain Mutation: a Challenging Diagnosis of Atypical Severe Combined Immunodeficiency
- T<sup>+</sup> NK<sup>+</sup> IL-2 Receptor γ Chain Mutation: a Challenging Diagnosis of Atypical Severe Combined Immunodeficiency
- The diagnosis of severe combined immunodeficiency (SCID): The Primary Immune Deficiency Treatment Consortium (PIDTC) 2022 Definitions
- The diagnosis of severe combined immunodeficiency: Implementation of the PIDTC 2022 Definitions
- The IL-2RG R328X nonsense mutation allows partial STAT-5 phosphorylation and defines a critical region involved in the leaky-SCID phenotype
- The role of MAGT1 in genetic syndromes
- Three faces of recombination activating gene 1 (RAG1) mutations
- Two cases of ADA2 deficiency presenting as childhood polyarteritis nodosa: novel ADA2 variant, atypical CNS manifestations, and literature review
- Two siblings with PRKDC defect who presented with cutaneous granulomas and review of the literature
- Uncontrolled Epstein-Barr Virus as an Atypical Presentation of Deficiency in ADA2 (DADA2)
- Unusual phenotype in patients with a hypomorphic mutation in the DCLRE1C gene: IgG hypergammaglobulinemia with IgA and IgE deficiency
- Vasculitis as a Major Morbidity Factor in Patients With Partial RAG Deficiency
- When Screening for Severe Combined Immunodeficiency (SCID) with T Cell Receptor Excision Circles Is Not SCID: a Case-Based Review
- Whole exome sequencing reveals a novel LRBA mutation and clonal hematopoiesis in a common variable immunodeficiency patient presented with hemophagocytic lymphohistiocytosis