Clinicopathologic Conference: Straight From the Cradle: A Patient With Early‐Onset Polyautoimmunity and Recurrent Infections

A Caucasian man with a history of autoimmune hepatitis on chronic prednisone therapy developed a rash over his chest, back, and upper extremities. He was evaluated by a dermatologist, who thought his scattered ill-defined, erythematous patches were consistent with an eczema flare. Topical steroids were prescribed.

[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.