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| 37788905 | Spectrum of <i>LYST</i> mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature. | J Med Genet | 2024 |
| 38015619 | Disease-associated AIOLOS variants lead to immune deficiency/dysregulation by haploinsufficiency and redefine AIOLOS functional domains. | J Clin Invest | 2024 |
| 36378426 | A Heterozygous Gain-of-Function Variant in IKBKB Associated with Autoimmunity and Autoinflammation. | J Clin Immunol | 2023 |
| 37562721 | Subcutaneous panniculitis-like T-cell lymphoma in two unrelated individuals with BENTA disease. | Clin Immunol | 2023 |
| 37561579 | A phase III randomized crossover trial of plerixafor versus G-CSF for treatment of WHIM syndrome. | J Clin Invest | 2023 |
| 37600812 | Identification of eight novel proteasome variants in five unrelated cases of proteasome-associated autoinflammatory syndromes (PRAAS). | Front Immunol | 2023 |
| 35838483 | Autophagy-associated immune dysregulation and hyperplasia in a patient with compound heterozygous mutations in <i>ATG9A</i>. | Autophagy | 2023 |
| 37349293 | Inherited ARPC5 mutations cause an actinopathy impairing cell motility and disrupting cytokine signaling. | Nat Commun | 2023 |
| 37277074 | TCF3 haploinsufficiency defined by immune, clinical, gene-dosage, and murine studies. | J Allergy Clin Immunol | 2023 |
| 37364928 | NF-kappa-B essential modulator (NEMO) gene polymorphism in an adult woman with systemic lupus erythematosus and recurrent non-tuberculous mycobacterial disseminated infections. | RMD Open | 2023 |
| 36522461 | Longitudinal multi-omics analyses of the gut-liver axis reveals metabolic dysregulation in hepatitis C infection and cirrhosis. | Nat Microbiol | 2023 |
| 36884218 | Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease. | J Exp Med | 2023 |
| 36433803 | Inborn errors of human IKAROS: LOF and GOF variants associated with primary immunodeficiency. | Clin Exp Immunol | 2023 |
| 36932076 | Constitutively active Lyn kinase causes a cutaneous small vessel vasculitis and liver fibrosis syndrome. | Nat Commun | 2023 |
| 36662884 | A multimorphic mutation in IRF4 causes human autosomal dominant combined immunodeficiency. | Sci Immunol | 2023 |
| 34089750 | Cushing syndrome and glucocorticoids: T-cell lymphopenia, apoptosis, and rescue by IL-21. | J Allergy Clin Immunol | 2022 |
| 35412596 | Case report and review of the literature: immune dysregulation in a large familial cohort due to a novel pathogenic RELA variant. | Rheumatology (Oxford) | 2022 |
| 35790351 | Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation. | J Med Genet | 2022 |
| 35753512 | Clinical exome sequencing of 1000 families with complex immune phenotypes: Toward comprehensive genomic evaluations. | J Allergy Clin Immunol | 2022 |
| 35687490 | Genomic characterization of lymphomas in patients with inborn errors of immunity. | Blood Adv | 2022 |
| 36166305 | Immunogenetics associated with severe coccidioidomycosis. | JCI Insight | 2022 |
| 35333544 | Gain-of-function <i>IKZF1</i> variants in humans cause immune dysregulation associated with abnormal T/B cell late differentiation. | Sci Immunol | 2022 |
| 34791587 | CARD9 Expression Pattern, Gene Dosage, and Immunodeficiency Phenotype Revisited. | J Clin Immunol | 2022 |
| 34407251 | IFNγR1 deficiency presenting with visceral leishmaniasis and Mycobacterium Avium infections mimicking HLH. | Pediatr Allergy Immunol | 2022 |
| 34780847 | TNF inhibition in vasculitis management in adenosine deaminase 2 deficiency (DADA2). | J Allergy Clin Immunol | 2022 |
| 34655400 | A Double-Blind, Placebo-Controlled, Crossover Study of Magnesium Supplementation in Patients with XMEN Disease. | J Clin Immunol | 2022 |
| 32845957 | Germline IKAROS dimerization haploinsufficiency causes hematologic cytopenias and malignancies. | Blood | 2021 |
| 33876203 | SASH3 variants cause a novel form of X-linked combined immunodeficiency with immune dysregulation. | Blood | 2021 |
| 33691560 | Germline <i>IKZF1</i> mutations and their impact on immunity: IKAROS-associated diseases and pathophysiology. | Expert Rev Clin Immunol | 2021 |
| 33855675 | Abnormal SCID Newborn Screening and Spontaneous Recovery Associated with a Novel Haploinsufficiency IKZF1 Mutation. | J Clin Immunol | 2021 |
| 33658297 | A Point Mutation in IKAROS ZF1 Causes a B Cell Deficiency in Mice. | J Immunol | 2021 |
| 34875609 | STAT3 gain-of-function mutation in an adult patient. | Medicina (B Aires) | 2021 |
| 34788508 | Parathyroid Hormone Resistance and Autoantibodies to the PTH1 Receptor. | N Engl J Med | 2021 |
| 34694366 | T and B cell abnormalities, pneumocystis pneumonia, and chronic lymphocytic leukemia associated with an AIOLOS defect in patients. | J Exp Med | 2021 |
| 34623902 | The expansion of human T-bet<sup>high</sup>CD21<sup>low</sup> B cells is T cell dependent. | Sci Immunol | 2021 |
| 34504497 | SARS-CoV-2 Spike Protein-Directed Monoclonal Antibodies May Ameliorate COVID-19 Complications in APECED Patients. | Front Immunol | 2021 |
| 34826259 | Germline biallelic mutation affecting the transcription factor Helios causes pleiotropic defects of immunity. | Sci Immunol | 2021 |
| 34155405 | A variant in human AIOLOS impairs adaptive immunity by interfering with IKAROS. | Nat Immunol | 2021 |
| 34032947 | Complicated Diagnosis and Treatment of HA20 due to Contiguous Gene Deletions involving 6q23.3. | J Clin Immunol | 2021 |
| 33954879 | Clinical Manifestations, Mutational Analysis, and Immunological Phenotype in Patients with RAG1/2 Mutations: First Cases Series from Mexico and Description of Two Novel Mutations. | J Clin Immunol | 2021 |
| 34136975 | Correction to: Clinical Manifestations, Mutational Analysis, and Immunological Phenotype in Patients with RAG1/2 Mutations: First Cases Series from Mexico and Description of Two Novel Mutations. | J Clin Immunol | 2021 |
| 34354970 | Ikaros-Associated Diseases: From Mice to Humans and Back Again. | Front Pediatr | 2021 |
| 33140240 | POLD1 Deficiency Reveals a Role for POLD1 in DNA Repair and T and B Cell Development. | J Clin Immunol | 2021 |
| 33245474 | N-Glycan Modification in Covid-19 Pathophysiology: In vitro Structural Changes with Limited Functional Effects. | J Clin Immunol | 2021 |
| 33212241 | Recurrent lymphadenitis in a female XIAP/BIRC4 mutation carrier with normal lyonization. | J Allergy Clin Immunol Pract | 2021 |
| 33392855 | IKAROS-Associated Diseases in 2020: Genotypes, Phenotypes, and Outcomes in Primary Immune Deficiency/Inborn Errors of Immunity. | J Clin Immunol | 2021 |
| 33122583 | Common Variable Immunodeficiency, Autoimmune Hemolytic Anemia, and Pancytopenia Associated With a Defect in IKAROS. | J Pediatr Hematol Oncol | 2021 |
| 33007327 | Severe SARS-CoV-2 disease in the context of a NF-κB2 loss-of-function pathogenic variant. | J Allergy Clin Immunol | 2021 |
| 33006108 | Expanding the Clinical Phenotype of Chronic Granulomatous Disease: a Female Patient with a De Novo Mutation in CYBB. | J Clin Immunol | 2021 |
| 31319217 | Skewed Lymphocyte Subpopulations and Associated Phenotypes in Patients with Mastocytosis. | J Allergy Clin Immunol Pract | 2020 |