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Quoted phrase not found in phrase index: "Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency"
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JAGN1 Deficient Severe Congenital Neutropenia: Two Cases from the Same Family.
Baris S, Karakoc-Aydiner E, Ozen A, Delil K, Kiykim A, Ogulur I, Baris I, Barlan IB. Baris S, et al. J Clin Immunol. 2015 May;35(4):339-43. doi: 10.1007/s10875-015-0156-2. Epub 2015 Apr 8. J Clin Immunol. 2015. PMID: 25851723
Recently autosomal recessively inherited mutations in the gene encoding Jagunal homolog 1 (JAGN1) was described as a novel disease-causing gene of severe congenital neutropenia (SCN) JAGN1-mutant neutrophils were characterized by a …
Recently autosomal recessively inherited mutations in the gene encoding Jagunal homolog 1 (JAGN1) was described as a no …
Three patients with glucose-6 phosphatase catalytic subunit 3 deficiency.
Cetinkaya PG, Cagdas D, Arikoglu T, Gumruk F, Tezcan I. Cetinkaya PG, et al. J Pediatr Endocrinol Metab. 2020 Jul 28;33(7):957-961. doi: 10.1515/jpem-2019-0541. J Pediatr Endocrinol Metab. 2020. PMID: 32623377
Objectives Severe congenital neutropenia (SCN) is a primary immunodeficiency (PID) characterized by persistent severe neutropenia, recurrent infections, and oral aphthous lesions. Severe congenital neutropenia is caused by various genetic …
Objectives Severe congenital neutropenia (SCN) is a primary immunodeficiency (PID) characterized by persistent severe n …
Screening of genetic variants in ELANE mutation negative congenital neutropenia by next generation sequencing.
Arunachalam AK, Suresh H, Edison ES, Korula A, Aboobacker FN, George B, Shaji RV, Mathews V, Balasubramanian P. Arunachalam AK, et al. J Clin Pathol. 2020 Jun;73(6):322-327. doi: 10.1136/jclinpath-2019-206306. Epub 2019 Nov 15. J Clin Pathol. 2020. PMID: 31732620
AIMS: Congenital neutropenia (CN) is a rare inherited disease that results in recurrent, life-threatening bacterial infections due to a deficiency of mature neutrophils. They are usually caused by heterozygous ELANE mutations although mutations in other genes like HAX-1, G …
AIMS: Congenital neutropenia (CN) is a rare inherited disease that results in recurrent, life-threatening bacterial infections due to a d …