@article {52,
	title = {Association Between Absolute Neutrophil Count and Variation at TCIRG1: The NHLBI Exome Sequencing Project.},
	journal = {Genet Epidemiol},
	volume = {40},
	year = {2016},
	month = {2016 09},
	pages = {470-4},
	abstract = {<p>Neutrophils are a key component of innate immunity. Individuals with low neutrophil count are susceptible to frequent infections. Linkage and association between congenital neutropenia and a single rare missense variant in TCIRG1 have been reported in a single family. Here, we report on nine rare missense variants at evolutionarily conserved sites in TCIRG1 that are associated with lower absolute neutrophil count (ANC; p = 0.005) in 1,058 participants from three cohorts: Atherosclerosis Risk in Communities (ARIC), Coronary Artery Risk Development in Young Adults (CARDIA), and Jackson Heart Study (JHS) of the NHLBI Grand Opportunity Exome Sequencing Project (GO ESP). These results validate the effects of TCIRG1 coding variation on ANC and suggest that this gene may be associated with a spectrum of mild to severe effects on ANC.</p>},
	keywords = {Adult, Aged, Aged, 80 and over, Alleles, Cohort Studies, Female, Gene Frequency, Genotype, High-Throughput Nucleotide Sequencing, Humans, Leukocyte Count, Male, Middle Aged, Mutation, Missense, National Heart, Lung, and Blood Institute (U.S.), Neutropenia, Neutrophils, Sequence Analysis, DNA, United States, Vacuolar Proton-Translocating ATPases},
	issn = {1098-2272},
	doi = {10.1002/gepi.21976},
	author = {Rosenthal, Elisabeth A and Makaryan, Vahagn and Burt, Amber A and Crosslin, David R and Kim, Daniel Seung and Smith, Joshua D and Nickerson, Deborah A and Reiner, Alex P and Rich, Stephen S and Jackson, Rebecca D and Ganesh, Santhi K and Polfus, Linda M and Qi, Lihong and Dale, David C and Jarvik, Gail P}
}
@article {254,
	title = {TCIRG1-associated congenital neutropenia.},
	journal = {Hum Mutat},
	volume = {35},
	year = {2014},
	month = {2014 Jul},
	pages = {824-7},
	abstract = {<p>Severe congenital neutropenia (SCN) is a rare hematopoietic disorder, with estimated incidence of 1 in 200,000 individuals of European descent, many cases of which are inherited in an autosomal dominant pattern. Despite the fact that several causal genes have been identified, the genetic basis for >30\% of cases remains unknown. We report a five-generation family segregating a novel single nucleotide variant (SNV) in TCIRG1. There is perfect cosegregation of the SNV with congenital neutropenia in this family; all 11 affected, but none of the unaffected, individuals carry this novel SNV. Western blot analysis show reduced levels of TCIRG1 protein in affected individuals, compared to healthy controls. Two unrelated patients with SCN, identified by independent investigators, are heterozygous for different, rare, highly conserved, coding variants in TCIRG1. </p>},
	keywords = {DNA Mutational Analysis, Heterozygote, Humans, Mutation, Neutropenia, Pedigree, Vacuolar Proton-Translocating ATPases},
	issn = {1098-1004},
	doi = {10.1002/humu.22563},
	author = {Makaryan, Vahagn and Rosenthal, Elisabeth A and Bolyard, Audrey Anna and Kelley, Merideth L and Below, Jennifer E and Bamshad, Michael J and Bofferding, Kathryn M and Smith, Joshua D and Buckingham, Kati and Boxer, Laurence A and Skokowa, Julia and Welte, Karl and Nickerson, Deborah A and Jarvik, Gail P and Dale, David C}
}
