title: Ocular Manifestations of Inherited Phospholipase-Cγ2-Associated Antibody Deficiency and Immune Dysregulation.
abstract: OBJECTIVE
  To report the ocular manifestations of phospholipase-Cγ2-associated antibody deficiency and immune dysregulation (PLAID).
  
  
  METHODS
  Case report and literature review.
  
  
  RESULTS
  A 21-year-old woman diagnosed with PLAID was referred for evaluation of repeated episodes of ocular inflammation resulting in bilateral peripheral corneal pannus with episcleritis and corneal scarring accompanied by systemic manifestations including epidermolysis bullosa and interstitial lung disease. Systemic immunosuppression with corticosteroids and interleukin-1 (IL-1) receptor antagonist (anakinra) was supplemented with topical anakinra to avoid systemic side effects, which resulted in partial improvement of the ocular symptoms. Oral prednisone was restarted to treat active lesions during bouts of inflammation.
  
  
  CONCLUSIONS
  Ocular PLAID is a bilateral chronic or recurrent inflammatory disease of the ocular surface leading to severe and early cicatricial ocular surface and corneal involvement because of high IL-1 production. Management of PLAID may require both topical and systemic immunomodulatory treatments, potentially including targeted local anti-IL-1 therapy.
authors.affiliation: *Schepens Eye Research Institute, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, MA; and†Columbia University, Edward S. Harkness Eye Institute, New York, NY.
authors.forename: Antonio
authors.initials: A
authors.lastname: Di Zazzo
authors.forename: Maryam
authors.initials: M
authors.lastname: Tahvildari
authors.forename: George J
authors.initials: GJ
authors.lastname: Florakis
authors.forename: Reza
authors.initials: R
authors.lastname: Dana
mesh_terms: D000284:Administration, Oral; D018501:Antirheumatic Agents / Q000627:therapeutic use; D003231:Conjunctivitis / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D003316:Corneal Diseases / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D004359:Drug Therapy, Combination; D005260:Female; D005938:Glucocorticoids / Q000627:therapeutic use; D056660:Hereditary Autoinflammatory Diseases / Q000188:drug therapy / Q000235:genetics*; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000188:drug therapy / Q000235:genetics*; D053590:Interleukin 1 Receptor Antagonist Protein / Q000627:therapeutic use; D051966:Phospholipase C gamma / Q000235:genetics*; D011241:Prednisone / Q000627:therapeutic use; D015423:Scleritis / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D055815:Young Adult
chemical_list: D018501:Antirheumatic Agents; D005938:Glucocorticoids; D053590:Interleukin 1 Receptor Antagonist Protein; D051966:Phospholipase C gamma; D011241:Prednisone