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glycine and Severe Combined Immunodeficiency

glycine has been researched along with Severe Combined Immunodeficiency in 4 studies

Severe Combined Immunodeficiency: Group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. It is inherited as an X-linked or autosomal recessive defect. Mutations occurring in many different genes cause human Severe Combined Immunodeficiency (SCID).

Research Excerpts

ExcerptRelevanceReference
"Patients with severe combined immune deficiency (SCID) suffer from defective T-cell Ca2+ signaling."1.35Increased hydrophobicity at the N terminus/membrane interface impairs gating of the severe combined immunodeficiency-related ORAI1 mutant. ( Bergsmann, J; Carugo, O; Derler, I; Eshaghi, S; Fahrner, M; Frischauf, I; Muik, M; Romanin, C; Schindl, R, 2009)
"Most patients are infants with severe combined immunodeficiency (SCID), but in about 20 percent immune dysfunction becomes manifest later in childhood ("delayed-onset"); several patients with "late" or "adult" onset of immune dysfunction have been diagnosed at 15-39 years."1.30Seven novel mutations in the adenosine deaminase (ADA) gene in patients with severe and delayed onset combined immunodeficiency: G74C, V129M, G140E, R149W, Q199P, 462delG, and E337del. Mutations in brief no. 142. Online. ( Arrendondo-Vega, FX; Buckley, R; Conley, ME; El Dahr, J; Hershfield, MS; Notarangelo, LD; Roifman, C; Santisteban, I, 1998)

Research

Studies (4)

TimeframeStudies, this research(%)All Research%
pre-19901 (25.00)18.7374
1990's2 (50.00)18.2507
2000's1 (25.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Derler, I1
Fahrner, M1
Carugo, O1
Muik, M1
Bergsmann, J1
Schindl, R1
Frischauf, I1
Eshaghi, S1
Romanin, C1
KOZINETS, GI1
OSECHENSKAIA, GV1
Sasaki, Y1
Iseki, M1
Yamaguchi, S1
Kurosawa, Y1
Yamamoto, T1
Moriwaki, Y1
Kenri, T1
Sasaki, T1
Yamashita, R1
Arrendondo-Vega, FX1
Santisteban, I1
Notarangelo, LD1
El Dahr, J1
Buckley, R1
Roifman, C1
Conley, ME1
Hershfield, MS1

Other Studies

4 other studies available for glycine and Severe Combined Immunodeficiency

ArticleYear
Increased hydrophobicity at the N terminus/membrane interface impairs gating of the severe combined immunodeficiency-related ORAI1 mutant.
    The Journal of biological chemistry, 2009, Jun-05, Volume: 284, Issue:23

    Topics: Amino Acid Substitution; Calcium Channels; Cell Line; Cell Membrane; Cloning, Molecular; Computation

2009
[Uptake of C14-labelled glycine into the hematopoietic cells of patients with leukoses].
    Medical radiology, 1962, Volume: 7

    Topics: Autoradiography; Blood Platelets; Bone Marrow; Erythrocytes; Genetic Diseases, X-Linked; Glycine; Hu

1962
Direct evidence of autosomal recessive inheritance of Arg24 to termination codon in purine nucleoside phosphorylase gene in a family with a severe combined immunodeficiency patient.
    Human genetics, 1998, Volume: 103, Issue:1

    Topics: Amino Acid Sequence; Arginine; Base Sequence; Child, Preschool; Chromosome Mapping; Chromosomes, Hum

1998
Seven novel mutations in the adenosine deaminase (ADA) gene in patients with severe and delayed onset combined immunodeficiency: G74C, V129M, G140E, R149W, Q199P, 462delG, and E337del. Mutations in brief no. 142. Online.
    Human mutation, 1998, Volume: 11, Issue:6

    Topics: Adenosine Deaminase; Adolescent; Adult; Age of Onset; Arginine; Cysteine; Glutamic Acid; Glutamine;

1998