Marked variability in clinical presentation and outcome of patients with C1q immunodeficiency

van Schaarenburg, Rosanne; Schejbel, Lone; Truedsson, Lennart; TOPALOĞLU, REZAN; Al-Mayouf, Sulaiman; Riordan, Andrew; Simon, Anna; Kallel-Sellami, Maryam; Arkwright, Peter; Ahlin, Anders; Hagelberg, Stefan; Nielsen, Susan; Shayesteh, Alexander; Morales, Adelaida; Tam, Schuman; Genel, Ferah; Berg, Stefan; Ketel, Arnoldus; van den Berg, J.; Kuijpers, Taco; Olsson, Richard; Huizinga, Tom; Lankester, Arjan; Trouw, Leendert

doi:10.1016/j.jaut.2015.06.002

Marked variability in clinical presentation and outcome of patients with C1q immunodeficiency

Atıf İçin Kopyala

van Schaarenburg R. A., Schejbel L., Truedsson L., TOPALOĞLU R., Al-Mayouf S. M., Riordan A., ...Daha Fazla

JOURNAL OF AUTOIMMUNITY, cilt.62, ss.39-44, 2015 (SCI-Expanded)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 62
Basım Tarihi: 2015
Doi Numarası: 10.1016/j.jaut.2015.06.002
Dergi Adı: JOURNAL OF AUTOIMMUNITY
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.39-44
Hacettepe Üniversitesi Adresli: Evet

Özet

Objective: Globally approximately 60 cases of C1q deficiency have been described with a high prevalence of Systemic Lupus Erythematosus (SLE). So far treatment has been guided by the clinical presentation rather than the underlying C1q deficiency. Recently, it was shown that C1q production can be restored by allogeneic hematopoietic stem cell transplantation. Current literature lacks information on disease progression and quality of life of C1q deficient persons which is of major importance to guide clinicians taking care of patients with this rare disease.