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Variable CD18 expression in a 22-year-old female with leukocyte adhesion deficiency I: Clinical case and literature review.
Bondarenko, Anastasiia V; Boyarchuk, Oksana R; Sakovich, Inga S; Polyakova, Ekaterina A; Migas, Alexander A; Kupchinskaya, Aleksandra N; Opalinska, Aleksandra; Reich, Adam; Volianska, Liubov; Hilfanova, Anna M; Lapiy, Fedir I; Chernyshova, Liudmyla I; Volokha, Alla P; Zabara, Dariia V; Belevtsev, Mikhail V; Shman, Tatsiana V; Kukharenko, Lyudmila V; Goltsev, Mikhail V; Dubouskaya, Tatsiana G; Hancharou, Andrei Y; Ji, Weizhen; Lakhani, Saquib; Lucas, Carrie L; Aleinikova, Olga V; Sharapova, Svetlana O.
Afiliação
  • Bondarenko AV; Department of Pediatrics, Immunology, Infectious and Rare Diseases, European Medical School International European University Kyiv Ukraine.
  • Boyarchuk OR; Department of Children's Diseases and Pediatric Surgery I. Horbachevsky Ternopil National Medical University Ternopil Ukraine.
  • Sakovich IS; Research Department Belarusian Research Center for Pediatric Oncology, Hematology and Immunology Minsk Belarus.
  • Polyakova EA; Research Department Belarusian Research Center for Pediatric Oncology, Hematology and Immunology Minsk Belarus.
  • Migas AA; Research Department Belarusian Research Center for Pediatric Oncology, Hematology and Immunology Minsk Belarus.
  • Kupchinskaya AN; Research Department Belarusian Research Center for Pediatric Oncology, Hematology and Immunology Minsk Belarus.
  • Opalinska A; Department of Dermatology, Institute of Medical Sciences Medical College of Rzeszow University Rzeszow Poland.
  • Reich A; Department of Dermatology, Institute of Medical Sciences Medical College of Rzeszow University Rzeszow Poland.
  • Volianska L; Department of Children's Diseases and Pediatric Surgery I. Horbachevsky Ternopil National Medical University Ternopil Ukraine.
  • Hilfanova AM; Department of Pediatrics, Immunology, Infectious and Rare Diseases, European Medical School International European University Kyiv Ukraine.
  • Lapiy FI; Department of Pediatrics, Immunology, Infectious and Rare Diseases, European Medical School International European University Kyiv Ukraine.
  • Chernyshova LI; Shupyk National Healthcare University of Ukraine Kyiv Ukraine.
  • Volokha AP; Shupyk National Healthcare University of Ukraine Kyiv Ukraine.
  • Zabara DV; Institute of Pediatrics, Obstetrics and Gynecology named after Academician O.M. Lukyanova of the NAMS of Ukraine Kyiv Ukraine.
  • Belevtsev MV; Research Department Belarusian Research Center for Pediatric Oncology, Hematology and Immunology Minsk Belarus.
  • Shman TV; Research Department Belarusian Research Center for Pediatric Oncology, Hematology and Immunology Minsk Belarus.
  • Kukharenko LV; Department of Medical and Biological Physics Belarusian State Medical University Minsk Belarus.
  • Goltsev MV; Department of Medical and Biological Physics Belarusian State Medical University Minsk Belarus.
  • Dubouskaya TG; Institute of Biophysics and Cell Engineering NAS of Belarus Minsk Belarus.
  • Hancharou AY; Institute of Biophysics and Cell Engineering NAS of Belarus Minsk Belarus.
  • Ji W; Department of Pediatrics Yale University New Haven Connecticut USA.
  • Lakhani S; Yale University Pediatric Genomics Discovery Program New Haven Connecticut USA.
  • Lucas CL; Department of Pediatrics Yale University New Haven Connecticut USA.
  • Aleinikova OV; Yale University Pediatric Genomics Discovery Program New Haven Connecticut USA.
  • Sharapova SO; Yale University Pediatric Genomics Discovery Program New Haven Connecticut USA.
Clin Case Rep ; 11(8): e7791, 2023 Aug.
Article em En | MEDLINE | ID: mdl-37601427
ABSTRACT
Key Clinical Message Partial leukocyte adhesion deficiency type 1 (LAD-1) deficiency is extremely rare condition with milder infectious manifestation and immune system imbalance leads to increased risks of autoinflammatory complications, such as pyoderma gangrenosum, that can be triggered by trauma or pregnancy. In patients with spice-site ITGB2 variants, partial expression can occur due to different ß2 integrin isophorms expression. Abstract LAD-1, OMIM ID #116920 is a rare, autosomal recessive disorder that results from mutations in the ITGB2 gene that encodes the CD18 ß2 integrin subunit. According to the CD18 expression, LAD-1 is categorized as severe (<2%), moderate (2%-30%), or mild (>30%). Here, we describe a 22-year-old female, who presented with inflammatory skin disease and oral cavity, as well as respiratory tract infections during the first year of life. LAD-1 was diagnosed at the age of 2 years by low expression of CD18 (1%). Whole-exome sequencing identified homozygous c. 59-10C>A variant in the ITGB2 gene. Despite severe phenotype, the patient survived to adulthood without hematopoietic stem cell transplantation and became pregnant at the age of 20 years, with pregnancy complicated by a pyoderma gangrenosum-like lesion. During her life, CD18 expression increased from 1% to 9%; at 22 years of age, 5% of neutrophils and 9% of lymphocytes were CD18+. All CD18+-lymphocytes were predominantly memory/effector cytotoxic T cells. However, revertant mosaicism was not being established suggesting that CD18 expression variability may be mediated by other mechanisms such as different ß2 integrin isophorms expression.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Revista: Clin Case Rep Ano de publicação: 2023 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Revista: Clin Case Rep Ano de publicação: 2023 Tipo de documento: Article