BLNK mutation associated with T-cell LGL leukemia and autoimmune diseases: Case report in hematology - Université Paris Cité Accéder directement au contenu
Article Dans Une Revue Frontiers in Medicine Année : 2022

BLNK mutation associated with T-cell LGL leukemia and autoimmune diseases: Case report in hematology

Guillemette Fouquet
  • Fonction : Auteur
Julien Rossignol
  • Fonction : Auteur
Laure Ricard
  • Fonction : Auteur
Flavia Guillem
  • Fonction : Auteur
Lucile Couronné
  • Fonction : Auteur
Vahid Asnafi
  • Fonction : Auteur
Manon Vavasseur
  • Fonction : Auteur
Mélanie Parisot
  • Fonction : Auteur
Frédéric Rieux-Laucat
  • Fonction : Auteur
Arsène Mekinian
Olivier Hermine
  • Fonction : Auteur

Résumé

We present the case of a female patient with a heterozygous somatic BLNK mutation, a T-cell LGL (large granular lymphocyte) leukemia, and multiple autoimmune diseases. Although this mutation seems uncommon especially in this kind of clinical observation, it could represent a new mechanism for autoimmune diseases associated with LGL leukemia. The patient developed several autoimmune diseases: pure red blood cell apalsia, thyroiditis, oophoritis, and alopecia areata. She also presented a T-cell LGL leukemia which required treatment with corticosteroids and cyclophosphamide, with good efficacy. Interestingly, she had no notable infectious history. The erythroblastopenia also resolved, the alopecia evolves by flare-ups, and the patient is still under hormonal supplementation for thyroiditis and oophoritis. We wanted to try to understand the unusual clinical picture presented by this patient. We therefore performed whole-genome sequencing, identifying a heterozygous somatic BLNK mutation. Her total gamma globulin level was slightly decreased. Regarding the lymphocyte subpopulations, she presented a B-cell deficiency with increased autoreactive B-cells and a CD4+ and Treg deficiency. This B-cell deficiency persisted after complete remission of erythroblastopenia and LGL leukemia. We propose that the persistent B-cell deficiency linked to the BLNK mutation can explain her clinical phenotype.

Dates et versions

hal-03886915 , version 1 (06-12-2022)

Identifiants

Citer

Guillemette Fouquet, Julien Rossignol, Laure Ricard, Flavia Guillem, Lucile Couronné, et al.. BLNK mutation associated with T-cell LGL leukemia and autoimmune diseases: Case report in hematology. Frontiers in Medicine, 2022, 9, ⟨10.3389/fmed.2022.997161⟩. ⟨hal-03886915⟩
16 Consultations
0 Téléchargements

Altmetric

Partager

Gmail Facebook X LinkedIn More