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Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis.
Frede N, Rojas-Restrepo J, Caballero Garcia de Oteyza A, Buchta M, Hübscher K, Gámez-Díaz L, Proietti M, Saghafi S, Chavoshzadeh Z, Soler-Palacin P, Galal N, Adeli M, Aldave-Becerra JC, Al-Ddafari MS, Ardenyz Ö, Atkinson TP, Kut FB, Çelmeli F, Rees H, Kilic SS, Kirovski I, Klein C, Kobbe R, Korganow AS, Lilic D, Lunt P, Makwana N, Metin A, Özgür TT, Karakas AA, Seneviratne S, Sherkat R, Sousa AB, Unal E, Patiroglu T, Wahn V, von Bernuth H, Whiteford M, Doffinger R, Jouhadi Z, Grimbacher B. Frede N, et al. Among authors: metin a. J Clin Immunol. 2021 Nov;41(8):1804-1838. doi: 10.1007/s10875-021-01086-4. Epub 2021 Aug 14. J Clin Immunol. 2021. PMID: 34390440 Free PMC article.
Homozygous c.130-131 ins A (pW44X) mutation in the HAX1 gene as the most common cause of congenital neutropenia in Turkey: Report from the Turkish Severe Congenital Neutropenia Registry.
Yılmaz Karapınar D, Patıroğlu T, Metin A, Çalışkan Ü, Celkan T, Yılmaz B, Karakaş Z, Karapınar TH, Akıncı B, Özkınay F, Onay H, Yeşilipek MA, Akar HH, Tüysüz G, Tokgöz H, Özdemir GN, Aslan Kıykım A, Karaman S, Kılınç Y, Oymak Y, Küpesiz A, Olcay L, Keskin Yıldırım Z, Aydoğan G, Gökçe M, İleri T, Aral YZ, Bay A, Atabay B, Kaya Z, Söker M, Özdemir Karadaş N, Özbek U, Özsait Selçuk B, Özdemir HH, Uygun V, Tezcan Karasu G, Yılmaz Ş. Yılmaz Karapınar D, et al. Among authors: metin a. Pediatr Blood Cancer. 2019 Oct;66(10):e27923. doi: 10.1002/pbc.27923. Epub 2019 Jul 19. Pediatr Blood Cancer. 2019. PMID: 31321910