Clinicopathologic Conference: Straight From the Cradle: A Patient With Early‐Onset Polyautoimmunity and Recurrent Infections
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G. Stojan | D. M. Bongiorno | S. Baig | S. Gaine | A. Fava
[1] David T Yang,et al. Autoimmune Lymphoproliferative Syndrome: An Overview. , 2019, Archives of pathology & laboratory medicine.
[2] K. Schwarz,et al. Distinct molecular response patterns of activating STAT3 mutations associate with penetrance of lymphoproliferation and autoimmunity. , 2019, Clinical immunology.
[3] C. Spencer,et al. An unprecedented COPA gene mutation in two patients in the same family: comparative clinical analysis of newly reported patients with other known COPA gene mutations , 2019, Pediatric Rheumatology.
[4] P. Rohrlich,et al. Clinical Aspects of STAT3 Gain-of-Function Germline Mutations: A Systematic Review. , 2019, The journal of allergy and clinical immunology. In practice.
[5] B. Wright,et al. Contrasting Clinical Presentations In Brothers With Identical STAT3 Gain‐Of‐Function Mutations: 344 , 2019, Journal of Allergy and Clinical Immunology.
[6] D. Teachey,et al. Autoimmune lymphoproliferative syndrome: more than a FAScinating disease , 2017, F1000Research.
[7] J. Milner,et al. Up, Down, and All Around: Diagnosis and Treatment of Novel STAT3 Variant , 2017, Front. Pediatr..
[8] I. Santin,et al. An Activating Mutation in STAT3 Results in Neonatal Diabetes Through Reduced Insulin Synthesis , 2017, Diabetes.
[9] J. Orange,et al. Copa Syndrome: a Novel Autosomal Dominant Immune Dysregulatory Disease , 2016, Journal of Clinical Immunology.
[10] A. Borkhardt,et al. Autoimmune lymphoproliferative syndrome-like disease in patients with LRBA mutation. , 2015, Clinical immunology.
[11] Mark S. Anderson,et al. COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis , 2015, Nature Genetics.
[12] J. Kere,et al. Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease , 2014, Nature Genetics.
[13] K. Warnatz,et al. Common variable immunodeficiency - an update , 2012, Arthritis Research & Therapy.
[14] K. Leslie. My approach to interstitial lung disease using clinical, radiological and histopathological patterns , 2009, Journal of Clinical Pathology.