atypical severe combined immunodeficiency Recently Published Documents

Cd8 T Cell ◽

Janus Kinase ◽

Janus Kinase 3 ◽

Clinical, Immunological, and Molecular Features of Typical and Atypical Severe Combined Immunodeficiency: Report of the Italian Primary Immunodeficiency Network

Frontiers in Immunology ◽

10.3389/fimmu.2019.01908 ◽

2019 ◽

Vol 10 ◽

Cited By ~ 8

Author(s):

Emilia Cirillo ◽

Caterina Cancrini ◽

Chiara Azzari ◽

Silvana Martino ◽

Baldassarre Martire ◽

...

Keyword(s):

Primary Immunodeficiency ◽

Molecular Features ◽

T+ NK+ IL-2 Receptor γ Chain Mutation: a Challenging Diagnosis of Atypical Severe Combined Immunodeficiency

Journal of Clinical Immunology ◽

10.1007/s10875-018-0514-y ◽

2018 ◽

Vol 38 (4) ◽

pp. 527-536 ◽

Cited By ~ 6

Author(s):

Polina Stepensky ◽

Baerbel Keller ◽

Oded Shamriz ◽

Caroline von Spee-Mayer ◽

David Friedmann ◽

...

Keyword(s):

Late presenting atypical severe combined immunodeficiency (SCID) associated with a novel missense mutation in DCLRE1C

Pediatric Allergy and Immunology ◽

10.1111/pai.12812 ◽

2017 ◽

Vol 29 (1) ◽

pp. 108-111 ◽

Cited By ~ 1

Author(s):

Mikael Sundin ◽

Michael Uhlin ◽

Ahmed Gaballa ◽

Kim Ramme ◽

Antonios GA Kolios ◽

...

Keyword(s):

Missense Mutation ◽

An Atypical Severe Combined Immunodeficiency (SCID) Case Diagnosis Complicated by Alternative Care in the Era of Newborn Screening (NBS) for SCID

Journal of Allergy and Clinical Immunology ◽

10.1016/j.jaci.2016.12.015 ◽

2017 ◽

Vol 139 (2) ◽

pp. AB18

Author(s):

Taylor Alberdi ◽

Johana B. Castro-Wagner ◽

Bhumika Patel ◽

Sonia Joychan ◽

David Lindsey ◽

...

Keyword(s):

Newborn Screening ◽

Alternative Care ◽

Case Diagnosis ◽

DCLRE1C(ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency

Human Molecular Genetics ◽

10.1093/hmg/ddv437 ◽

2015 ◽

Vol 24 (25) ◽

pp. 7361-7372 ◽

Cited By ~ 35

Author(s):

Timo Volk ◽

Ulrich Pannicke ◽

Ismail Reisli ◽

Alla Bulashevska ◽

Julia Ritter ◽

...

Keyword(s):

Antibody Deficiency ◽

Atypical Severe Combined Immunodeficiency Caused by a Novel Homozygous Mutation In Rag1 Gene in a Girl who Presented with Pyoderma Gangrenosum: A Case Report and Literature Review

Journal of Clinical Immunology ◽

10.1007/s10875-014-0077-5 ◽

2014 ◽

Vol 34 (7) ◽

pp. 792-795 ◽

Cited By ~ 17

Author(s):

Turkan Patiroglu ◽

H. Haluk Akar ◽

Kimberly Gilmour ◽

M. Akif Ozdemir ◽

Shahnaz Bibi ◽

...

Keyword(s):

Case Report ◽

Literature Review ◽

Pyoderma Gangrenosum ◽

Homozygous Mutation ◽

Rag1 Gene ◽

Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency

Clinical Immunology ◽

10.1016/j.clim.2011.05.007 ◽

2011 ◽

Vol 141 (1) ◽

pp. 73-82 ◽

Cited By ~ 114

Author(s):

Kerstin Felgentreff ◽

Ruy Perez-Becker ◽

Carsten Speckmann ◽

Klaus Schwarz ◽

Krzysztof Kalwak ◽

...

Keyword(s):

Faculty Opinions recommendation of Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.12845956.14133054 ◽

2011 ◽

Author(s):

Sung-Yun Pai

Keyword(s):

Common gamma chain mutation R222C causes atypical severe combined immunodeficiency (SCID) phenotype

Journal of Allergy and Clinical Immunology ◽

10.1016/s0091-6749(03)80773-x ◽

2003 ◽

Vol 111 (2) ◽

pp. S222

Author(s):

M. Triassi ◽

C. Roifman

Keyword(s):

Gamma Chain ◽

Common Gamma Chain ◽