• A model for reticular dysgenesis shows impaired sensory organ development and hair cell regeneration linked to cellular stress
• AK2 deficiency: An awkward tale for B cells
• Baseline reticular basement membrane morphology is related to subsequent spirometry deterioration in pediatric chronic airway inflammation: a follow-up study
• Bone Marrow Failure
• Bone Marrow Failure
• Case Report: Profound newborn leukopenia related to a novel RAC2 variant
• Clinical, Immunological, and Molecular Findings in 57 Patients With Severe Combined Immunodeficiency (SCID) From India
• Cutis Marmorata Telangiectatica Congenita
• DNA methylation profiling of central nervous system hemangioblastomas identifies two distinct subgroups
• Frequency of pathogenic/likely pathogenic germline variants in cancer-related genes among children with acute leukemia in Saudi Arabia
• Hypomorphic variants in AK2 reveal the contribution of mitochondrial function to B-cell activation
• Interstitial lung abnormalities and interstitial lung diseases associated with cigarette smoking in a rural cohort undergoing surgical resection
• Isolated congenital interruption of the right interlobar pulmonary artery with unilateral interstitial lung abnormality
• Not too little, not too much: the impact of mutation types in Wiskott-Aldrich syndrome and RAC2 patients
• Peripheral Vestibular Dysfunction Is a Common Occurrence in Children With Non-syndromic and Syndromic Genetic Hearing Loss
• Planar cell polarity and the pathogenesis of Tourette Disorder: New hypotheses and perspectives
• Progressive Necrotic Black Eschar and Reticular Purpura: A Quiz
• Reticular Chemistry-Enabled Sonodynamic Activity of Covalent Organic Frameworks for Nanodynamic Cancer Therapy
• Reticular Dysgenesis and Mitochondriopathy Induced by Adenylate Kinase 2 Deficiency with Atypical Presentation
• Reticular dysgenesis caused by an intronic pathogenic variant in <em>AK2</em>
• Reticular dysgenesis caused by an intronic pathogenic variant in AK2
• Reticular dysgenesis exacerbated by hemophagocytic lymphohistiocytosis and the presence of unusual histiocyte-like cells in bone marrow
• Reticular Dysgenesis: A Rare Immunodeficiency in a Neonate With Cytopenias and Bacterial Sepsis
• Rheumatological manifestations in primary immunodeficiency diseases
• Spectrum of Liver Pathology in Dyskeratosis Congenita
• The Effect of Heterozygous Mutation of Adenylate Kinase 2 Gene on Neutrophil Differentiation
• TREC/KREC Newborn Screening followed by Next-Generation Sequencing for Severe Combined Immunodeficiency in Japan
• UK-5099, a mitochondrial pyruvate carrier inhibitor, recovers impaired neutrophil maturation caused by AK2 deficiency in human pluripotent stem cell models
• Update on nevi and nevoid skin disorders
• Vascular uses of LP1064 applicator on the harmony XL pro device