Öztürk G., Haskoloğlu Ş., Deveci N., Erkmen H., Çelik N. A., Sucak G., ...Daha Fazla
Turkish archives of pediatrics, 2023 (ESCI, TRDizin)
Özet
Primary immunodeficiencies are diseases that occur due to deficiency and/or dysfunction in
any component of the immune system and may be characterized by susceptibility to infections, autoimmunity, malignancy, allergies, and autoinflammatory diseases.1
Although lymphoproliferation may be present with lymphadenopathy and splenomegaly, it can also be
observed with autoimmune cytopenias, endocrinopathies, or enteropathies. Immune dysregulation disorders are mostly considered in patients with such findings.2
We aimed to present our 20-year-old patient with an unexpected diagnosis of primary immunodeficiency,
who had recurrent infections, developmental delay, lymphadenopathy, splenomegaly,
immune thrombocytopenic purpura (ITP), and dysmorphic features and was referred to us
with suspicion of malignancy