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X-Linked Combined Immunodeficiency Diseases

Known as: SCID, X Linked, X-SCID, Immunodeficiency Diseases, X-Linked Combined 
Forms of combined immunodeficiency caused by mutations in the gene for INTERLEUKIN RECEPTOR COMMON GAMMA SUBUNIT. Both severe and non-severe subtypes… 
National Institutes of Health

Related topics

Related topics

24 relations
AgammaglobulinemiaBronchitisCandidal diaper rashChronic diarrhea

Broader (1)

Severe Combined Immunodeficiency

Narrower (1)

Woods Black Norbury syndrome

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
1998
1998
A perspective on the use of tubeless pancreatic function tests in diagnosis
For many years, gastroenterologists have searched for the holy grail of pancreatic function tests—the tubeless test. The quest is… 
1993
1993
The localization of a gene causing X-linked cleft palate and ankyloglossia (CPX) in an Icelandic kindred is between DXS326 and DXYS1X.
The locus responsible for X-linked, nonsyndromic cleft palate and/or ankyloglossia (CPX) has previously been mapped to the… 
Highly Cited
1992
Highly Cited
1992
Replacement of arginine 773 by cysteine or histidine in the human androgen receptor causes complete androgen insensitivity with different receptor phenotypes.
We have discovered two different point mutations in a single codon of the X-linked androgen-receptor (AR) gene in two pairs of… 
Highly Cited
1986
Highly Cited
1986
Enzyme-linked immunoabsorbant assay of apolipoprotein AII in plasma, with use of a monoclonal antibody.
We produced a monoclonal antibody (C2-22) to human apolipoprotein (Apo) AII and describe its use in an enzyme-linked… 
1980
1980
X-linked recessive retinitis pigmentosa and vitreous fluorophotometry. A study of female heterozygotes.
Vitreous fluorophotometry was used to assess the functional integrity of the blood-retinal barrier in four female carriers of X… 
Highly Cited
1976
Highly Cited
1976
Heterogeneity of lymphocyte subpopulations in severe combined immunodeficiency. Evidence against a stem cell defect.
Surface markers typical of T and B lymphocytes were present on varying proportions of peripheral blood lymphocytes from three… 
Highly Cited
1976
Highly Cited
1976
Characterization of residual enzyme activity in fibroblasts from patients with adenosine deaminase deficiency and combined immunodeficiency: evidence for a mutant enzyme.
A proportion of patients suffering from the autosomal recessive form of severe combined immunodeficiency have an inherited… 
1976
1976
X-linked recessive type of pure spastic paraplegia in a large pedigree: absence of detectable linkage with Xg.
A family with 24 males affected by an X-linked type of spastic paraplegia is reported. Twelve affected members were personally… 
Highly Cited
1971
Highly Cited
1971
Electron flow and cholesterol-side-chain cleavage in ovarian mitochondria.
The supply of electrons for the hydroxylation reactions associated with cholesterol side-chain cleavage has been studied in… 
1971
1971
Expression of two X-linked genes in human hair follicles of double heterozygotes.
Expression of the two X-linked loci glucose-6-phosphate dehydrogenase (G6PD; EC 1.1.1.49) and hypoxanthine:guanine…