TY  - JOUR
TI  - Rare Autoinflammatory Diseases: A Single Center Experience of 47 Patients
AB  - Autoinflammatory diseases include a group disease characterized by recurrent systemic inflammatory attacks  due  to  failure  in  the  regulation  of  the  innate  immune  system.  The  beginning  time  of autoinflammatory disease are the most commonly in childhood. Autoinflammatory disease which having different clinical forms are rare, therefore diagnosis is often delayed. To determine the clinical, laboratory and radiological characteristics of children with rare autoinflammatory diseases and in which patients to consider autoinflammatory disease. Forty seven patients diagnosed with rare autoinflammatory diseases between 2010 and 2020 were analyzed retrospectively. Demographic characteristics, clinical courses, laboratory and imaging findings of the patients were recorded. Forty-seven with rare autoinflammatory patients  evaluated.  Twenty-three  patients  had  Chronic  Nonbacterial  Osteomyelitis  (CNO),  seven patients had Mevalonate Kinase Deficiency (MKD), six patients had Blau Syndrome / Early-Onset Sarcoidosis (BS/EOS) Syndrome, three patients had Cryopyrin-associated periodic fever syndrome (CAPS), three patients had Autoinflammatory Vasculitis, one patient had Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) syndrome, one patient had Neonatal Onset Pancytopenia, Autoinflammation, Rash and Episodic HLH (NOARCH) syndrome. Three of our patients were being followed up with a diagnosis of undiferantiated systemic autoinflammatory disease  (uSAID).Autoinflammatory  diseases  may  have  different  presentations.  Steril  and  recurrent inflammation should be warning clinicians.
AU  - Pac Kisaarslan, Aysenur
AU  - Özdemir Çiçek, Sümeyra
AU  - TAŞKIN, Sema Nur
AU  - Dusunsel, Ruhan
AU  - Sahin, Nihal
AU  - DOGANTAN, SEYDA
AU  - Poyrazoğlu, Muammer Hakan
DO  - 10.51271/jpea-2021-0110
PY  - 2021
JO  - The journal of pediatric academy (Online)
VL  - 2
IS  - 1
SN  - 2718-0875
SP  - 27
EP  - 35
DB  - TRDizin
UR  - http://search/yayin/detay/1137449
ER  -