Recommendations from the ClinGen SCID VCEP: Implementation of ACMG/AMP Variant Curation Guidelines for Severe Combined Immunodeficiency Disease

被引：1

作者：

Jacovas, Vanessa ^{[1
]}

Zelnick, Michelle ^{[1
]}

Cowan, Morton ^{[2
]}

Ghosh, Rajarshi ^{[3
]}

Hershfield, Michael ^{[4
]}

Puck, Jennifer ^{[5
]}

Verbsky, James ^{[6
]}

Walter, Jolan ^{[7
]}

Yuan, Bo ^{[1
]}

Martin, Shiloh ^{[8
]}

Pan, Xueyang ^{[1
]}

McNulty, Shannon ^{[9
]}

Johnson, Britt ^{[8
]}

Chinn, Ivan ^{[10
]}

机构：

[1] Baylor Coll Med, Houston, TX USA

[2] Univ Calif San Francisco, Allergy Immunol & Blood & Marrow Transplant Div, San Francisco, CA USA

[3] NIAID, NIH, Bethesda, MD USA

[4] Duke Univ, Med Rheumatol & Immunology, Dept Internal Med, Durham, NC USA

[5] Univ Calif San Francisco, Div Pediat Allergy Immunol & Blood & Marrow Trans, San Francisco, CA USA

[6] Med Coll Wisconsin, Clin Immunol Res Lab & Translat Res, Madison, WI USA

[7] Univ S Florida, Tampa, FL USA

[8] Invitae, San Francisco, CA USA

[9] Univ N Carolina, Lab Genet & Genom, Dept Pathol & Lab Med, Chapel Hill, NC 27599 USA

[10] Baylor Coll Med, Dept Pediat, Div Immunol Allergy & Retrovirol, Houston, TX USA

来源：

关键词：

SCID; ClinGen; ACMG/AMP guidelines;

D O I：

10.1016/j.clim.2023.109607

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

262

引用

页码：156 / 156

页数：1