Published in Clin Exp Immunol on February 01, 2005
Diversity of polyproline recognition by EVH1 domains. Front Biosci (Landmark Ed) (2009) 0.95
Germinal center dark and light zone organization is mediated by CXCR4 and CXCR5. Nat Immunol (2004) 4.22
Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. Cell (1994) 4.04
Wiskott-Aldrich syndrome. An immunologic deficiency disease involving the afferent limb of immunity. Am J Med (1968) 3.54
Wiskott-Aldrich syndrome protein regulates podosomes in primary human macrophages. Proc Natl Acad Sci U S A (1999) 2.89
Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia. Nat Genet (2001) 2.70
Wiskott-Aldrich syndrome protein is required for NK cell cytotoxicity and colocalizes with actin to NK cell-activating immunologic synapses. Proc Natl Acad Sci U S A (2002) 2.32
Configuration of human dendritic cell cytoskeleton by Rho GTPases, the WAS protein, and differentiation. Blood (2001) 1.96
A critical role for complement in maintenance of self-tolerance. Immunity (1998) 1.90
Chemotaxis of macrophages is abolished in the Wiskott-Aldrich syndrome. Br J Haematol (1998) 1.87
Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation. Blood (2004) 1.78
Wiskott-Aldrich syndrome protein regulates lipid raft dynamics during immunological synapse formation. Immunity (2002) 1.69
Wiskott-Aldrich syndrome protein deficiency leads to reduced B-cell adhesion, migration, and homing, and a delayed humoral immune response. Blood (2004) 1.56
Defective actin reorganization and polymerization of Wiskott-Aldrich T cells in response to CD3-mediated stimulation. Blood (1997) 1.51
Altered leukocyte response to CXCL12 in patients with warts hypogammaglobulinemia, infections, myelokathexis (WHIM) syndrome. Blood (2004) 1.46
Monocytes from Wiskott-Aldrich patients display reduced chemotaxis and lack of cell polarization in response to monocyte chemoattractant protein-1 and formyl-methionyl-leucyl-phenylalanine. J Immunol (1998) 1.37
Impaired dendritic-cell homing in vivo in the absence of Wiskott-Aldrich syndrome protein. Blood (2004) 1.35
Maturation of DC is associated with changes in motile characteristics and adherence. Cell Motil Cytoskeleton (2004) 1.31
X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene. Nat Genet (1995) 1.29
Impaired natural and CD16-mediated NK cell cytotoxicity in patients with WAS and XLT: ability of IL-2 to correct NK cell functional defect. Blood (2004) 1.27
Mechanisms of WASp-mediated hematologic and immunologic disease. Blood (2004) 1.26
T cell lines characterize events in the pathogenesis of the Wiskott-Aldrich syndrome. J Exp Med (1992) 1.24
Autoimmunity in Wiskott-Aldrich syndrome. Curr Opin Rheumatol (2003) 1.20
Early deficit of lymphocytes in Wiskott-Aldrich syndrome: possible role of WASP in human lymphocyte maturation. Clin Exp Immunol (2004) 1.13
Intrinsic dendritic cell abnormalities in Wiskott-Aldrich syndrome. Eur J Immunol (1998) 1.06
Phenotypic perturbation of B cells in the Wiskott-Aldrich syndrome. Clin Exp Immunol (2005) 1.03
Wiskott-Aldrich Syndrome: a model for defective actin reorganization, cell trafficking and synapse formation. Curr Opin Immunol (2003) 1.01
Defective actin polymerization in EBV-transformed B-cell lines from patients with the Wiskott-Aldrich syndrome. J Pathol (1998) 0.98
Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia. Blood (2002) 0.96
The spleen in the Wiskott-Aldrich syndrome: histopathologic abnormalities of the white pulp correlate with the clinical phenotype of the disease. Am J Surg Pathol (1999) 0.96
Complement receptor 2 and autoimmunity. Curr Dir Autoimmun (2004) 0.80
Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2). Cell (2000) 9.99
Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies). Clin Immunol (1999) 5.98
Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM. Nature (1993) 4.39
Clinical spectrum of X-linked hyper-IgM syndrome. J Pediatr (1997) 3.63
Video-assisted anal fistula treatment (VAAFT): a novel sphincter-saving procedure for treating complex anal fistulas. Tech Coloproctol (2011) 3.45
Partial V(D)J recombination activity leads to Omenn syndrome. Cell (1998) 3.18
Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis. Nat Genet (2000) 3.12
Gene therapy in peripheral blood lymphocytes and bone marrow for ADA- immunodeficient patients. Science (1995) 2.79
V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations. Blood (2001) 2.50
Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM. Proc Natl Acad Sci U S A (2001) 2.39
Presentation of the same glycolipid by different CD1 molecules. J Exp Med (2002) 2.06
Human V gamma 9-V delta 2 cells are stimulated in a cross-reactive fashion by a variety of phosphorylated metabolites. Eur J Immunol (1995) 2.05
Self glycolipids as T-cell autoantigens. Eur J Immunol (1999) 1.93
Studies of the expression of the Wiskott-Aldrich syndrome protein. J Clin Invest (1996) 1.87
The alphabeta T cell response to self-glycolipids shows a novel mechanism of CD1b loading and a requirement for complex oligosaccharides. Immunity (2000) 1.72
Interaction of mite allergens Der p3 and Der p9 with protease-activated receptor-2 expressed by lung epithelial cells. J Immunol (2001) 1.68
Monokine production by microglial cell clones. Eur J Immunol (1989) 1.64
Distinct interactions of the X-linked lymphoproliferative syndrome gene product SAP with cytoplasmic domains of members of the CD2 receptor family. Clin Immunol (2001) 1.44
Complex effects of naturally occurring mutations in the JAK3 pseudokinase domain: evidence for interactions between the kinase and pseudokinase domains. Mol Cell Biol (2000) 1.38
GB virus C infection in patients with type II mixed cryoglobulinemia. Ann Intern Med (1997) 1.37
Monocytes from Wiskott-Aldrich patients display reduced chemotaxis and lack of cell polarization in response to monocyte chemoattractant protein-1 and formyl-methionyl-leucyl-phenylalanine. J Immunol (1998) 1.37
In-utero transplantation of parental CD34 haematopoietic progenitor cells in a patient with X-linked severe combined immunodeficiency (SCIDXI). Lancet (1996) 1.35
Structural and functional basis for JAK3-deficient severe combined immunodeficiency. Blood (1997) 1.34
CD30 cell expression and abnormal soluble CD30 serum accumulation in Omenn's syndrome: evidence for a T helper 2-mediated condition. Eur J Immunol (1996) 1.33
Defective expression of CD40 ligand on T cells causes "X-linked immunodeficiency with hyper-IgM (HIGM1)". Immunol Rev (1994) 1.32
Immunology of Down syndrome: a review. Am J Med Genet Suppl (1990) 1.30
The mutational spectrum of human malignant autosomal recessive osteopetrosis. Hum Mol Genet (2001) 1.29
Intrathymic restriction and peripheral expansion of the T-cell repertoire in Omenn syndrome. Blood (1999) 1.27
Missense mutations in the Fas gene resulting in autoimmune lymphoproliferative syndrome: a molecular and immunological analysis. Blood (1997) 1.23
Molecular cloning of ILP-2, a novel member of the inhibitor of apoptosis protein family. Mol Cell Biol (2001) 1.23
Expression of inducible nitric oxide synthase in human granulomas and histiocytic reactions. Am J Pathol (1999) 1.21
Mutations in conserved regions of the predicted RAG2 kelch repeats block initiation of V(D)J recombination and result in primary immunodeficiencies. Mol Cell Biol (2000) 1.20
Novel Munc13-4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis. J Med Genet (2006) 1.20
Detection of HIV-1 in epidermal Langerhans cells of HIV-infected patients using the polymerase chain reaction. J Invest Dermatol (1991) 1.18
Chromosomal banding patterns in the eyelid-less microteiid radiation: Procellosaurinus and Vanzosaura (Squamata, Gymnophthalmidae). Cytogenet Cell Genet (1996) 1.14
Signaling via IL-2 and IL-4 in JAK3-deficient severe combined immunodeficiency lymphocytes: JAK3-dependent and independent pathways. Immunity (1996) 1.13
Treatment of a newly established transgenic model of chronic arthritis with nondepleting anti-CD4 monoclonal antibody. J Immunol (1997) 1.09
A novel 4-kb interleukin-13 receptor alpha mRNA expressed in human B, T, and endothelial cells encoding an alternate type-II interleukin-4/interleukin-13 receptor. Eur J Immunol (1997) 1.08
Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis. J Med Genet (2001) 1.07
X-chromosome inactivation analysis in a female carrier of FOXP3 mutation. Clin Exp Immunol (2002) 1.06
Unexpected and variable phenotypes in a family with JAK3 deficiency. Genes Immun (2001) 1.05
Interleukin-15 (IL-15) induces IL-8 and monocyte chemotactic protein 1 production in human monocytes. Blood (1997) 1.04
IgM and IgD concentrations in the serum and secretions of children with selective IgA deficiency. Clin Exp Immunol (1983) 1.03
Omenn syndrome: a disorder of Rag1 and Rag2 genes. J Clin Immunol (1999) 1.03
BTKbase: a database of XLA-causing mutations. International Study Group. Immunol Today (1995) 1.03
CD70 expression on T-cell subpopulations: study of normal individuals and patients with chronic immune activation. Immunol Lett (1997) 1.02
PTX3 genetic variations affect the risk of Pseudomonas aeruginosa airway colonization in cystic fibrosis patients. Genes Immun (2010) 1.01
Surgery for hilar cholangiocarcinoma: an Italian experience. J Hepatobiliary Pancreat Surg (2000) 1.01
CD40lbase: a database of CD40L gene mutations causing X-linked hyper-IgM syndrome. Immunol Today (1996) 1.00
Molecular modeling of the Jak3 kinase domains and structural basis for severe combined immunodeficiency. Clin Immunol (2000) 0.98
Organization of the human CD40L gene: implications for molecular defects in X chromosome-linked hyper-IgM syndrome and prenatal diagnosis. Proc Natl Acad Sci U S A (1994) 0.98
Defective actin polymerization in EBV-transformed B-cell lines from patients with the Wiskott-Aldrich syndrome. J Pathol (1998) 0.98
Structural basis for chromosome X-linked agammaglobulinemia: a tyrosine kinase disease. Proc Natl Acad Sci U S A (1994) 0.97
The spleen in the Wiskott-Aldrich syndrome: histopathologic abnormalities of the white pulp correlate with the clinical phenotype of the disease. Am J Surg Pathol (1999) 0.96
Stem cell transplantation for the Wiskott-Aldrich syndrome: a single-center experience confirms efficacy of matched unrelated donor transplantation. Bone Marrow Transplant (2006) 0.96
Primary immunodeficiency mutation databases. Adv Genet (2001) 0.95
Comparison of American and European practices in the management of patients with primary immunodeficiencies. Clin Exp Immunol (2012) 0.94
Genetic mutation screening in an italian cohort of nonsyndromic pheochromocytoma/paraganglioma patients. Ann N Y Acad Sci (2006) 0.94
Enhanced interleukin 1 and depressed interleukin 2 production in juvenile arthritis. J Rheumatol (1986) 0.93
Linker for activation of T cells (LAT), a novel immunohistochemical marker for T cells, NK cells, mast cells, and megakaryocytes: evaluation in normal and pathological conditions. Am J Pathol (1999) 0.93
HTLV-II infection in Italian drug abusers. Lancet (1990) 0.92
A PCR-based non-radioactive X-chromosome inactivation assay for genetic counseling in X-linked primary immunodeficiencies. Life Sci (1997) 0.92
Close linkage of probe p212 (DXS178) to X-linked agammaglobulinemia. Hum Genet (1989) 0.92
Generation of new oncogenic murine retroviruses by cotransfection of cloned AKR and MH2 proviruses. Oncogene (1989) 0.92
Surgical treatment of iatrogenic lesions of the proximal common bile duct. World J Surg (2001) 0.91
In vitro cell death of activated lymphocytes in Omenn's syndrome. Eur J Immunol (1997) 0.91
High prevalence of nonsense, frame shift, and splice-site mutations in 16 patients with full-blown Wiskott-Aldrich syndrome. Blood (1995) 0.91
Mom and dad says I shouldn't: supervised and unsupervised children's knowledge of their parents' rules for home safety. J Pediatr Psychol (1986) 0.90
The hyper-IgM (HIM) syndrome. Springer Semin Immunopathol (1998) 0.90
Lymphoid abnormalities in CD40 ligand transgenic mice suggest the need for tight regulation in gene therapy approaches to hyper immunoglobulin M (IgM) syndrome. Cancer Gene Ther (2000) 0.89
Defective expression of HLA class I and CD1a molecules in boy with Marfan-like phenotype and deep skin ulcers. J Am Acad Dermatol (1996) 0.89
IgG subclass serum levels in juvenile chronic arthritis. Ann Rheum Dis (1986) 0.89
Activity of classical and alternative pathways of complement in preterm and small for gestational age infants. Pediatr Res (1984) 0.88
Advances in the understanding of cytokine signal transduction: the role of Jaks and STATs in immunoregulation and the pathogenesis of immunodeficiency. J Clin Immunol (1997) 0.88
Presentation of Wiskott Aldrich syndrome as isolated thrombocytopenia. Blood (1991) 0.88
Common polymorphisms of the growth hormone (GH) receptor do not correlate with the growth response to exogenous recombinant human GH in GH-deficient children. J Clin Endocrinol Metab (2006) 0.88
B cell function after haploidentical in utero bone marrow transplantation in a patient with severe combined immunodeficiency. Bone Marrow Transplant (2002) 0.88
A new case of IPEX receiving bone marrow transplantation. Bone Marrow Transplant (2005) 0.87
Characterization of a CD38-like 78-kilodalton soluble protein released from B cell lines derived from patients with X-linked agammaglobulinemia. J Clin Invest (1998) 0.86
Locally inducible CD66a (CEACAM1) as an amplifier of the human intestinal T cell response. Eur J Immunol (2000) 0.86
Immune reconstitution after in utero bone marrow transplantation in a fetus with severe combined immunodeficiency with natural killer cells. Transplant Proc (1999) 0.85
Hematopoietic stem cell transplantation in Omenn syndrome: a single-center experience. Bone Marrow Transplant (2005) 0.85
Identification of novel RFLPs in the vicinity of CpG islands in Xq28: application to the analysis of the pattern of X chromosome inactivation. Am J Hum Genet (1992) 0.84
A gene that modifies the sex ratio in a bisexual strain of Sciara ocellaris. Heredity (Edinb) (1979) 0.84
Functional inactivation in the whole population of human V gamma 9/V delta 2 T lymphocytes induced by a nonpeptidic antagonist. J Exp Med (1997) 0.84
Prevention of child injury: an overview of targets, methods, and tactics for psychologists. J Consult Clin Psychol (1985) 0.84
Isolation of cosmid and cDNA clones in the region surrounding the BTK gene at Xq21.3-q22. Genomics (1994) 0.84
First report of successful stem cell transplantation in a child with CD40 deficiency. Bone Marrow Transplant (2007) 0.84
In vitro correction of JAK3-deficient severe combined immunodeficiency by retroviral-mediated gene transduction. J Exp Med (1996) 0.84
Subcutaneous infusion of gamma globulins in the management of agammaglobulinemic patients. Birth Defects Orig Artic Ser (1983) 0.84
Structure and biology of self lipid antigens. Curr Top Microbiol Immunol (2007) 0.84
Eleven novel JAK3 mutations in patients with severe combined immunodeficiency-including the first patients with mutations in the kinase domain. Hum Mutat (2001) 0.84
Pharmacokinetics of prednisone and its metabolite prednisolone in children with nephrotic syndrome during the active phase and in remission. Br J Clin Pharmacol (1984) 0.83
Development of systemic lupus erythematosus in a young child affected with chronic granulomatous disease following withdrawal of treatment with interferon-gamma. Rheumatology (Oxford) (2003) 0.83
Rearrangement and expression of the antigen receptor alpha, beta and gamma genes in suppressor antigen-specific T cell lines. EMBO J (1985) 0.83
Salicylate interference with the Roche Cobas Integra chloride electrode. Clin Chem (1997) 0.83