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., ...More

Immunological investigations, vol.51, no.3, pp.558-566, 2022 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 51 Issue: 3
  • Publication Date: 2022
  • Doi Number: 10.1080/08820139.2020.1853153
  • Journal Name: Immunological investigations
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database
  • Page Numbers: pp.558-566
  • Keywords: Deficiency of adenosine deaminase 2, chronic neutropenia, autoinflammatory disease
  • Hacettepe University Affiliated: Yes

Abstract

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.