Phenotypic and Genetic Heterogeneity in Congenital Neutropenia - Exome Sequencing Reveals Overlap with Other Primary Immunodeficiency Disorders

被引：0

作者：

Kohistani, N. ^{[1
]}

Puchalka, J. ^{[1
]}

Racek, T. ^{[1
]}

Rezaei, N. ^{[2
]}

Unal, E. ^{[3
]}

Unal, S. ^{[4
]}

Skinner, R. ^{[5
,6
]}

Aglaguel, A. ^{[7
]}

Ailal, F. ^{[7
]}

Klein, C. ^{[1
]}

机构：

[1] Univ Munich, Dr von Hauner Childrens Hosp, Munich, Germany

[2] Univ Tehran Med Sci, Childrens Med Ctr, Res Ctr Immunodeficiencies, Tehran, Iran

[3] Erciyes Univ, Fac Med, Kayseri, Turkey

[4] Hacettepe Univ, Div Pediat Hematol, Ankara, Turkey

[5] Great North Childrens Hosp, Dept Paediat & Adolescent Haematol & Oncol, Newcastle Upon Tyne, Tyne & Wear, England

[6] Great North Childrens Hosp, Childrens BMT Unit, Newcastle Upon Tyne, Tyne & Wear, England

[7] King Hassan II Univ, Clin Immunol Unit, Hosp Univ Ctr Ibn Rochd, Casablanca, Morocco

来源：

JOURNAL OF CLINICAL IMMUNOLOGY | 2014年 / 34卷

关键词：

D O I：

暂无

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

ESID-0526

引用

页码：S188 / S188

页数：1

共 50 条

[21] Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings
Rudilla, Francesc
Franco-Jarava, Clara
Martinez-Gallo, Monica
Garcia-Prat, Marina
Martin-Nalda, Andrea
Riviere, Jacques
Aguilo-Cucurull, Aina
Mongay, Laura
Vidal, Francisco
Solanich, Xavier
Irastorza, Inaki
Luis Santos-Perez, Juan
Tercedor Sanchez, Jesus
Cusco, Ivon
Serra, Clara
Baz-Redon, Noelia
Fernandez-Cancio, Monica
Carreras, Carmen
Manuel Vagace, Jose
Garcia-Patos, Vicenc
Pujol-Borrell, Ricardo
Soler-Palacin, Pere
Colobran, Roger
FRONTIERS IN IMMUNOLOGY, 2019, 10
[22] Whole-exome sequencing reveals insights into genetic susceptibility to Congenital Zika Syndrome
Borda, Victor
da Silva Francisco Junior, Ronaldo
Carvalho, Joseane B.
Morais, Guilherme L.
Rossi, Atila Duque
Pezzuto, Paula
Azevedo, Girlene S.
Schamber-Reis, Bruno L.
Portari, Elyzabeth A.
Melo, Adriana
Moreira, Maria Elisabeth L.
Guida, Leticia C.
Cunha, Daniela P.
Gomes, Leonardo
Vasconcelos, Zilton F. M.
Faucz, Fabio R.
Tanuri, Amilcar
Stratakis, Constantine A.
Aguiar, Renato S.
Cardoso, Cynthia Chester
Ribeiro de Vasconcelos, Ana Tereza
PLOS NEGLECTED TROPICAL DISEASES, 2021, 15 (06):
[23] Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns
Alexander H. Li
Neil A. Hanchard
Dieter Furthner
Susan Fernbach
Mahshid Azamian
Annarita Nicosia
Jill Rosenfeld
Donna Muzny
Lisa C. A. D’Alessandro
Shaine Morris
Shalini Jhangiani
Dhaval R. Parekh
Wayne J. Franklin
Mark Lewin
Jeffrey A. Towbin
Daniel J. Penny
Charles D. Fraser
James F. Martin
Christine Eng
James R. Lupski
Richard A. Gibbs
Eric Boerwinkle
John W. Belmont
Genome Medicine, 9
[24] Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns
Li, Alexander H.
Hanchard, Neil A.
Furthner, Dieter
Fernbach, Susan
Azamian, Mahshid
Nicosia, Annarita
Rosenfeld, Jill
Muzny, Donna
D'Alessandro, Lisa C. A.
Morris, Shaine
Jhangiani, Shalini
Parekh, Dhaval R.
Franklin, Wayne J.
Lewin, Mark
Towbin, Jeffrey A.
Penny, Daniel J.
Fraser, Charles D.
Martin, James F.
Eng, Christine
Lupski, James R.
Gibbs, Richard A.
Boerwinkle, Eric
Belmont, John W.
GENOME MEDICINE, 2017, 9
[25] Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome
Badolato, Raffaele
Prandini, Alberto
Caracciolo, Sonia
Colombo, Francesca
Tabellini, Giovanna
Giacomelli, Mauro
Cantarini, Maria E.
Pession, Andrea
Bell, Callum J.
Dinwiddie, Darrell L.
Miller, Neil A.
Hateley, Shannon L.
Saunders, Carol J.
Zhang, Lu
Schroth, Gary P.
Plebani, Alessandro
Parolini, Silvia
Kingsmore, Stephen F.
BLOOD, 2012, 119 (13) : 3185 - 3187
[26] Exome Sequencing Reveals a Pallidin Mutation in a Hermansky-Pudlak-Like Primary Immunodeficiency Syndrome
Badolato, Raffaele
Prandini, Alberto
Caracciolo, Sonia
Colombo, Francesca
Tabellini, Giovanna
Giacomelli, Mauro
Cantarini, Maria E.
Pession, Andrea
Bell, Callum J.
Dinwiddie, Darrell L.
Miller, Neil A.
Hateley, Shannon L.
Saunders, Carol J.
Zhang, Lu
Schroth, Gary P.
Plebani, Alessandro
Parolini, Silvia
Kingsmore, Stephen F.
JOURNAL OF CLINICAL IMMUNOLOGY, 2012, 32 (02) : 380 - 381
[27] Exome sequencing of >500 individuals with brain malformation phenotypes reveals marked genetic heterogeneity
Chen, Wei-Liang
Timms, Andrew
Pao, Emily
Chong, Jessica
Bamshad, Michael
Nickerson, Debbie
Doherty, Dan
Novotny, Edward
Saneto, Russell
Ellenbogen, Richard
Hauptman, Jason
Ojemann, Jeff
Dobyns, William
Aldinger, Kimberly
Mirzaa, Ghayda
GENETICS IN MEDICINE, 2022, 24 (03) : S64 - S65
[28] Whole exome sequencing reveals greater intratumor genetic heterogeneity in primary breast cancer arising in African American compared to Caucasian women
Keenan, Tanya E.
Mroz, Edmund A.
Rocco, James W.
Ellisen, Leif W.
Moy, Beverly
Bardia, Aditya
CANCER RESEARCH, 2015, 75
[29] Whole exome sequencing reveals intertumor heterogeneity and distinct genetic origins of sporadic synchronous colorectal cancer
Di, Jiabo
Yang, Hong
Jiang, Beihai
Wang, Zaozao
Ji, Jiafu
Su, Xiangqian
INTERNATIONAL JOURNAL OF CANCER, 2018, 142 (05) : 927 - 939
[30] Whole Exome Sequencing In A National Cohort Of Steroid Resistant Nephrotic Syndrome Reveals Extent Of Genetic Heterogeneity
Bierzynska, Agnieszka
Mccarthy, Hugh
Simpson, Michael
Koziell, Ania
Baird, Denis
Day, Ian
Welsh, Gavin
Saleem, Moin
PEDIATRIC NEPHROLOGY, 2014, 29 (09) : 1673 - 1673

← 1 2 3 4 5 →