PARTIAL OCULOCUTANEOUS ALBINISM AND IMMUNODEFICIENCY SYNDROMES: TEN YEARS EXPERIENCE FROM A SINGLE CENTER IN TURKEY

• Published in: Genetic counseling Vol. 27; no. 1; pp. 67 - 76
• Main Authors: Patiroglu, T, Akar, H H, Unal, E, Chiang, S C, Schlums, H, Tesi, B, Ozkars, M Y, Karakukcu, M
• Format: Journal Article
• Language: English
• Published: Switzerland Éditions Médecine et Hygiène 2016
• Subjects: Albinism, Oculocutaneous - blood; Albinism, Oculocutaneous - genetics; Albinism, Oculocutaneous - pathology; Albinism, Oculocutaneous - physiopathology; Child, Preschool; Consanguinity; Fatal Outcome; Female; Humans; Immunologic Deficiency Syndromes - blood; Immunologic Deficiency Syndromes - genetics; Immunologic Deficiency Syndromes - pathology; Immunologic Deficiency Syndromes - physiopathology; Infant; Lymphohistiocytosis, Hemophagocytic - blood; Lymphohistiocytosis, Hemophagocytic - genetics; Lymphohistiocytosis, Hemophagocytic - pathology; Lymphohistiocytosis, Hemophagocytic - physiopathology; Male; Medicin och hälsovetenskap; Piebaldism - blood; Piebaldism - genetics; Piebaldism - pathology; Piebaldism - physiopathology; Retrospective Studies; Turkey; Turkey
• ISSN: 1015-8146

Partial oculocutaneous albinism and immunodeficiency (OCA-ID) diseases are autosomal recessive syndromes characterized by partial hypopigmentation and recurrent infections. Moreover, some OCA-ID syndromes confer susceptibility to develop a life-threatening hyperinflammatory condition called hemophagocytic lymphohistiocytosis (HLH). We investigated the genetic, clinical and immunological characteristics of 20 OCA patients. Herein, we present the clinical and immunological characteristics of 20 OCA patients who referred to the Department of Pediatric Immunology, Erciyes University Medical Faculty in Kayseri, Turkey between 2004 and 2014. Of the 20 OCA patients, 7 fulfilled diagnostic criteria for HLH, 9 showed defective functions of CD8 T cells and natural killer cells, and 8 received a definitive molecular diagnosis. Among the patients, we also report a patient diagnosed with two different genetic defects, in TYR and JAK3 genes, causing, respectively, OCA and ID. Our results illustrate the variability of clinical presentations and disease severity in OCA-ID patients, with consequent challenges in diagnosing and treating these patients.