Published in J Pediatr on May 01, 1988
Genetic Analysis of Inherited Urologic Malignant Disorders: Collection of Samples | NCT00001814
Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet (1992) 11.38
Maximum-likelihood analysis of human T-cell X chromosome inactivation patterns: normal women versus carriers of X-linked severe combined immunodeficiency. Am J Hum Genet (1992) 1.50
Mutations in btk in patients with presumed X-linked agammaglobulinemia. Am J Hum Genet (1998) 1.19
Application of carrier testing to genetic counseling for X-linked agammaglobulinemia. Am J Hum Genet (1994) 1.13
The random inactivation of the X chromosome carrying the defective gene responsible for X-linked hyper IgM syndrome (X-HIM) in female carriers of HIGM1. J Clin Invest (1994) 1.01
Bruton's tyrosine kinase defect in dendritic cells from X-linked agammaglobulinaemia patients does not influence their differentiation, maturation and antigen-presenting cell function. Clin Exp Immunol (2003) 0.97
XLP: clinical features and molecular etiology due to mutations in SH2D1A encoding SAP. J Clin Immunol (2014) 0.90
Detection of Bruton's tyrosine kinase mutations in hypogammaglobulinaemic males registered as common variable immunodeficiency (CVID) in the Japanese Immunodeficiency Registry. Clin Exp Immunol (2000) 0.88
Clonal diversity in the B cell repertoire of patients with X-linked agammaglobulinemia. J Exp Med (1989) 0.87
X linked agammaglobulinaemia with a 'leaky' phenotype. Arch Dis Child (1996) 0.81
Genetics of human X-linked immunodeficiency diseases. Clin Exp Immunol (1991) 0.79
Evidence for failure of V(D)J recombination in bone marrow pre-B cells from X-linked agammaglobulinemia. J Clin Invest (1992) 0.76
Trisomy X in a female member of a family with X linked severe combined immunodeficiency: implications for carrier diagnosis. J Med Genet (1994) 0.75
Hyper-IgE syndrome with recurrent infections--an autosomal dominant multisystem disorder. N Engl J Med (1999) 5.82
Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome. Cell (1995) 5.64
Report of the committee on the genetic constitution of the X chromosome. Cytogenet Cell Genet (1989) 3.37
Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants. J Pediatr (1997) 2.92
Isolation of cDNA clones encoding the 20K non-glycosylated polypeptide chain of the human T-cell receptor/T3 complex. Nature (1986) 2.76
Inherited human Caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II. Cell (1999) 2.74
X inactivation in females with X-linked disease. N Engl J Med (1998) 2.67
Genetic linkage of hyper-IgE syndrome to chromosome 4. Am J Hum Genet (1999) 2.63
Protection of infants from infection with influenza A virus by transplacentally acquired antibody. J Infect Dis (1980) 2.50
Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency. Nat Genet (1996) 2.29
An inherited disorder of lymphocyte apoptosis: the autoimmune lymphoproliferative syndrome. Ann Intern Med (1999) 2.20
The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis. Blood (2001) 2.15
Clincal, immunologic, and genetic features of an autoimmune lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis. Blood (1997) 2.10
Treatment of X-linked severe combined immunodeficiency by in utero transplantation of paternal bone marrow. N Engl J Med (1996) 1.86
Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance. Am J Hum Genet (1999) 1.74
Carrier detection in X-linked severe combined immunodeficiency based on patterns of X chromosome inactivation. J Clin Invest (1987) 1.67
Heterogeneity of clinical severity and molecular lesions in Aicardi syndrome. J Pediatr (1990) 1.62
Defective CD95/APO-1/Fas signal complex formation in the human autoimmune lymphoproliferative syndrome, type Ia. Proc Natl Acad Sci U S A (1999) 1.56
Immunophenotypic profiles in families with autoimmune lymphoproliferative syndrome. Blood (2001) 1.55
Increases in circulating and lymphoid tissue interleukin-10 in autoimmune lymphoproliferative syndrome are associated with disease expression. Blood (2001) 1.42
Pathological findings in human autoimmune lymphoproliferative syndrome. Am J Pathol (1998) 1.41
Nonrandom X chromosome inactivation in B cells from carriers of X chromosome-linked severe combined immunodeficiency. Proc Natl Acad Sci U S A (1988) 1.41
Characteristic T helper 2 T cell cytokine abnormalities in autoimmune lymphoproliferative syndrome, a syndrome marked by defective apoptosis and humoral autoimmunity. J Immunol (1997) 1.27
Disproportionate expansion of a minor T cell subset in patients with lymphadenopathy syndrome and acquired immunodeficiency syndrome. J Infect Dis (1985) 1.21
Delayed eruption of permanent teeth in hyperimmunoglobulinemia E recurrent infection syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol Endod (2000) 1.21
TcR-alpha/beta(+) CD4(-)CD8(-) T cells in humans with the autoimmune lymphoproliferative syndrome express a novel CD45 isoform that is analogous to murine B220 and represents a marker of altered O-glycan biosynthesis. Clin Immunol (2001) 1.20
An immune defect causing dominant chronic mucocutaneous candidiasis and thyroid disease maps to chromosome 2p in a single family. Am J Hum Genet (2001) 1.18
Novel intraoral phenotypes in hyperimmunoglobulin-E syndrome. Oral Dis (2008) 1.10
Dinucleotide repeat polymorphism at the DXS441 locus. Nucleic Acids Res (1992) 1.07
IL-2R gamma gene microdeletion demonstrates that canine X-linked severe combined immunodeficiency is a homologue of the human disease. Genomics (1994) 1.06
Regulatory interactions governing the proliferation of T cell subsets stimulated with pokeweed mitogen. J Immunol (1984) 1.00
Gene localization and syntenic mapping by FISH in the dog. Cytogenet Cell Genet (1996) 0.99
X-linked severe combined immunodeficiency. Diagnosis in males with sporadic severe combined immunodeficiency and clarification of clinical findings. J Clin Invest (1990) 0.98
IL2RGbase: a database of gamma c-chain defects causing human X-SCID. Immunol Today (1996) 0.97
The clinical spectrum in a large kindred with autoimmune lymphoproliferative syndrome caused by a Fas mutation that impairs lymphocyte apoptosis. J Pediatr (1998) 0.96
Primary immunodeficiency mutation databases. Adv Genet (2001) 0.95
Sib understanding of genetics and attitudes toward carrier testing for X-linked severe combined immunodeficiency. Am J Med Genet (2001) 0.95
Molecular analysis of X-linked agammaglobulinemia with growth hormone deficiency. J Pediatr (1991) 0.94
Lymphoid development and function in X-linked severe combined immunodeficiency mice after stem cell gene therapy. Mol Ther (2000) 0.94
The gene encoding human TFE3, a transcription factor that binds the immunoglobulin heavy-chain enhancer, maps to Xp11.22. Genomics (1991) 0.93
Interleukin-4-specific signal transduction events are driven by homotypic interactions of the interleukin-4 receptor alpha subunit. EMBO J (1996) 0.92
Family pictures: growing up with a brother with X-linked severe combined immunodeficiency. Am J Med Genet (2001) 0.90
Clonal analysis of solitary follicular nodules in the thyroid. Am J Pathol (1990) 0.90
Autoimmune lymphoproliferative syndrome: a syndrome associated with inherited genetic defects that impair lymphocytic apoptosis--CT and US features. Radiology (1999) 0.89
X chromosome inactivation patterns in obligate carriers of X-linked lymphoproliferative syndrome. Clin Immunol Immunopathol (1990) 0.88
Autoimmune lymphoproliferative syndrome, a disorder of apoptosis. Curr Opin Pediatr (1999) 0.87
Maternal mosaicism for a novel interleukin-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency in a Navajo kindred. J Clin Immunol (1997) 0.87
Genomic structure and mapping of human FADD, an intracellular mediator of lymphocyte apoptosis. J Immunol (1996) 0.86
Intronic point mutation in the IL2RG gene causing X-linked severe combined immunodeficiency. Hum Mol Genet (1995) 0.84
The interleukin-4 receptor variant Q576R in hyper-IgE syndrome. N Engl J Med (1998) 0.84
Efficient detection of thirty-seven new IL2RG mutations in human X-linked severe combined immunodeficiency. Clin Immunol (2000) 0.83
Expression in transgenic mice of dominant interfering Fas mutations: a model for human autoimmune lymphoproliferative syndrome. Clin Immunol (1999) 0.83
Definition of the gene loci in X-linked immunodeficiencies. Immunol Invest (1988) 0.83
The autoimmune lymphoproliferative syndrome. A disorder of human lymphocyte apoptosis. Clin Rev Allergy Immunol (2001) 0.82
Analphoid marker chromosome in a patient with hyper-IgE syndrome, autism, and mild mental retardation. Genet Med (2001) 0.81
Comparative mapping of canine and human proximal Xq and genetic analysis of canine X-linked severe combined immunodeficiency. Genomics (1994) 0.81
Interleukin-4 signaling in B lymphocytes from patients with X-linked severe combined immunodeficiency. J Biol Chem (1997) 0.80
Two mutational hotspots in the interleukin-2 receptor gamma chain gene causing human X-linked severe combined immunodeficiency. Am J Hum Genet (1995) 0.80
RFLPs in human X-linked PGK1: a new probe for the PstI RFLP demonstrates strong linkage disequilibrium with the BgII RFLP. Nucleic Acids Res (1989) 0.78
Retroviral-mediated gene correction for X-linked severe combined immunodeficiency. Blood (1996) 0.78
Twelve new polymorphic microsatellites on human chromosome 22. Genomics (1993) 0.78
Primary immunodeficiency diseases. JAMA (1997) 0.78
Catheter-related Fusarium solani fungemia and pulmonary infection in a patient with leukemia in remission. Clin Infect Dis (1993) 0.78
Localization of the 75-kDa inositol polyphosphate-5-phosphatase (INPP5B) to human chromosome band 1p34. Cytogenet Cell Genet (1994) 0.78
Interleukin-7R alpha mRNA expression increases as stem cells differentiate into T and B lymphocyte progenitors. Exp Hematol (1997) 0.77
Retroviral marking of canine bone marrow: long-term, high-level expression of human interleukin-2 receptor common gamma chain in canine lymphocytes. Blood (1998) 0.77
Characterization of an MDR1 retroviral bicistronic vector for correction of X-linked severe combined immunodeficiency. Gene Ther (1998) 0.77
Branhamella catarrhalis sepsis. Pediatr Infect Dis (1985) 0.76
A disease gene for autosomal hyper-IgM syndrome: more genes associated with more immunodeficiencies. Clin Immunol (2000) 0.75
Antigen presentation to human T lymphocytes. I. Different requirements for stimulation by hapten-modified cells vs. cell sonicates. J Exp Med (1981) 0.75
The timing of twinning: more insights from X inactivation. Am J Hum Genet (1998) 0.75
The Canale-Smith syndrome. N Engl J Med (1997) 0.75
Bromodeoxyuridine and light treatment enhances responsiveness of pokeweed mitogen-stimulated human lymphocytes to autologous and allogeneic determinants. Cell Immunol (1982) 0.75
Seven chromosome 22 STR polymorphisms. Hum Mol Genet (1994) 0.75
Canine lymphocyte expression of retrovirally transferred human common gamma chain. Ann N Y Acad Sci (1999) 0.75
Lymphocyte subsets in patients with acquired immunodeficiency syndrome (AIDS), aids-related complex (ARC), and acute viral infections. Trans Assoc Am Physicians (1984) 0.75
Genetic testing and screening in pediatric populations. Nurs Clin North Am (2000) 0.75
Immunodeficiencies: injecting some safety into SCID gene therapy? Gene Ther (2006) 0.75
Role of Ia-positive cells in induction of secondary human immune responses to haptens in vitro. J Exp Med (1980) 0.75
Antigen presentation to human T lymphocytes. II. Requirements for Mac-120+ macrophages and responsiveness to interleukin 2. Cell Immunol (1983) 0.75