Adenosine Deaminase Type II Deficiency: Severe Chronic Neutropenia, Lymphoid Infiltration in Bone Marrow, and Inflammatory Features.

SÜLEYMAN M., TAN Ç., ÜNER A., Inkaya C., Aytac Ş. S., BÜYÜKAŞIK Y., ...Daha Fazla

Immunological investigations, cilt.51, sa.3, ss.558-566, 2022 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 51 Sayı: 3
  • Basım Tarihi: 2022
  • Doi Numarası: 10.1080/08820139.2020.1853153
  • Dergi Adı: Immunological investigations
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database
  • Sayfa Sayıları: ss.558-566
  • Anahtar Kelimeler: Deficiency of adenosine deaminase 2, chronic neutropenia, autoinflammatory disease
  • Hacettepe Üniversitesi Adresli: Evet

Özet

Deficiency of adenosine deaminase type 2 (DADA2) is an autoinflammatory disease characterized with immunologic, hematologic, and neurological features. Here, we presented two patients with severe persistent chronic neutropenia, which required differential diagnosis of congenital and autoimmune neutropenia, myelodysplastic syndrome (MDS), and primary immunodeficiency diseases, including autoimmune lymphoproliferative disease. The therapy of the disease except hematopoietic stem cell transplantation is a challenging experience.