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

A G to A transition at the last nucleotide of exon 6 of the γc gene (868G→A) may result in either a splice or missense mutation in patients with X-linked severe combined immunodeficiency

Human Genetics ◽

10.1007/s004390050907 ◽

1999 ◽

Vol 104 (1) ◽

pp. 36-42 ◽

Cited By ~ 12

Author(s):

Nobuko Kanai ◽

Fumio Yanai ◽

S. Hirose ◽

Keiko Nibu ◽

Kenji Izuhara ◽

...

Keyword(s):

Missense Mutation ◽

Combined Immunodeficiency

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 ◽

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):

Homozygosity for a Missense Mutation (G20R) Associated with Neonatal Onset Adenosine Deaminase-Deficient Severe Combined Immunodeficiency (ADA-SCID)

Clinical Immunology and Immunopathology ◽

10.1006/clin.1994.1026 ◽

1994 ◽

Vol 70 (2) ◽

pp. 171-175 ◽

Cited By ~ 6

Author(s):

Diana Ruixi Yang ◽

Maryann L. Huie ◽

Rochelle Hirschhorn

Keyword(s):

Adenosine Deaminase ◽

Missense Mutation ◽

Neonatal Onset

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):

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 ◽

Severe Combined Immunodeficiency of Reduced Severity Due to Homozygosity for an Adenosine Deaminase Missense Mutation (ARG253PRO)

Cellular Immunology ◽

10.1006/cimm.1993.1299 ◽

1993 ◽

Vol 152 (2) ◽

pp. 383-393 ◽

Cited By ~ 9

Author(s):

Rochelle Hirschhorn ◽

Diana Ruixi Yang ◽

Richard A. Insel ◽

Mark Ballow

Keyword(s):

Adenosine Deaminase ◽

Missense Mutation ◽

Combined Immunodeficiency

A missense mutation in exon 4 of the human adenosine deaminase gene causes severe combined immunodeficiency

Human Molecular Genetics ◽

10.1093/hmg/2.8.1307 ◽

1993 ◽

Vol 2 (8) ◽

pp. 1307-1308 ◽

Cited By ~ 3

Author(s):

Ulus Atasoy ◽

Colette J. Norby-Slycord ◽

M.Louise Markert

Keyword(s):

Adenosine Deaminase ◽

Missense Mutation ◽

Exon 4

A case of aberrant CD8 T cell–restricted IL-7 signaling with a Janus kinase 3 defect–associated atypical severe combined immunodeficiency

Immunologic Research ◽

10.1007/s12026-020-09123-x ◽

2020 ◽

Vol 68 (1) ◽

pp. 13-27

Author(s):

Aaruni Khanolkar ◽

Jeffrey D. Wilks ◽

Guorong Liu ◽

Bridget M. Simpson ◽

Edward A. Caparelli ◽

...

Keyword(s):

T Cell ◽

Cd8 T Cell ◽

Janus Kinase ◽

Janus Kinase 3 ◽