Scopus
YÖKSİS Eşleşti
Diagnosis of Immunoglobulin G4-related disease in a child with ligneous conjunctivitis: a novel mutation in plasminogen gene and plasminogen activator inhibitor-1 polymorphism
Blood Coagulation and Fibrinolysis · Ekim 2023
YÖKSİS Kayıtları
Diagnosis of Immunoglobulin G4-related disease in a child with ligneous conjunctivitis: a novel mutation in plasminogen gene and plasminogen activator inhibitor-1 polymorphism
BLOOD COAGULATION & FIBRINOLYSIS · 2023 SCI-Expanded
PROFESÖR BANU BOZKURT →
Diagnosis of Immunoglobulin G4-related disease in a child with ligneous conjunctivitis: a novel mutation in plasminogen gene and plasminogen activator inhibitor-1 polymorphism
Ovid Technologies (Wolters Kluwer Health) · 2023 SCI-Expanded
PROFESÖR HALİL HALDUN EMİROĞLU →
Diagnosis of Immunoglobulin G4-related disease in a child with ligneous conjunctivitis: a novel mutation in plasminogen gene and plasminogen activator inhibitor-1 polymorphism
Blood Coagulation and Fibrinolysis · 2023 SCI-Expanded
DOÇENT MELİKE EMİROĞLU →
Diagnosis of Immunoglobulin G4-related disease in a child with ligneous conjunctivitis: a novel mutation in plasminogen gene and plasminogen activator inhibitor-1 polymorphism
Ovid Technologies (Wolters Kluwer Health) · 2023 SCI-Expanded
PROFESÖR MUSTAFA KOPLAY →
Makale Bilgileri
DergiBlood Coagulation and Fibrinolysis
Yayın TarihiEkim 2023
Cilt / Sayfa34 · 456-461
Scopus ID2-s2.0-85173618275
Özet
ObjectivesLigneous conjunctivitis (LC) is a chronic conjunctivitis characterized by recurrent, firm, fibrin-rich, woody pseudomembranes on the palpebral conjunctiva. It is an ultrarare autosomal recessive disease associated with congenital plasminogen (PLG) deficiency due to mutations in the PLG gene (6q26). Immunoglobulin G4-related disease (IgG4-RD) is an idiopathic, systemic fibroinflammatory disease characterized by elevated serum IgG4 concentration and tissue infiltration of IgG4-positive plasma cells leading to organ enlargement, fibrosis and damage.Case ReportA 7-year-old girl with LC was hospitalized for recurrent pancreatitis and diagnosed as IgG4-RD. PLG activity level was 15% (normal range 55-145%). Co-segregation analysis indicated that the patient was homozygous for the c. NG_016200.1(NM_000301.5):c.1465 T>C mutation in PLG gene. c. NG_016200.1(NM_000301.5):c.1465 T>C PLG variant was found to be heterozygous by NGS analysis in both parents. She also had plasminogen activator inhibitor-1 (PAI-1) NG_013213.1(NM_000602.5):c.-816A>G (4G/4G) homozygous polymorphism and a heterozygote NG_001333.2 (NM_002769.5):c.292_293insC mutation in the serine protease 1 (PRSS-1) gene. However, heterozygous PRSS-1NG_001333.2 (NM_002769.5):c.292_293insC variant was found in the mother of the patient. All detected variants are currently considered as a variant of uncertain (or unknown) significance (VUS) according to the American College of Medical Genetics and Genomics (ACMG) classification. Oral steroid, oral azathioprine, topical fresh frozen plasma, topical heparin, topical steroid and topical cyclosporine were given. After 3years of follow-up, IgG4-RD is under partial remission and no pseudomembranes.ConclusionShe is the second case had both LC and IgG4-RD. We identified a NG_016200.1(NM_000301.5):c.1465 T>C novel homozygous mutation in PLG gene and a PAI-1 NG_016200.1(NM_000301.5):c.1465 T>C (4G/4G) homozygous polymorphism, which has been reported as a risk factor for thrombotic events.
Yazarlar (6)
1
Melike Emiroglu
ORCID: 0000-0003-1307-0246
2
Banu Bozkurt
ORCID: 0000-0002-9847-3521
3
Halil Haldun Emiroğlu
4
M. Koplay
ORCID: 0000-0001-7513-4968
5
Nadir Koçak
ORCID: 0000-0002-1104-1292
6
Pınar Karabağlı
ORCID: 0000-0002-5558-0175
Anahtar Kelimeler
homozygous mutation
immunoglobulin G4-related disease
ligneous conjunctivitis
novel
plasminogen gene
Kurumlar
Selçuk Tip Fakültesi
Konya Turkey