4 Primary immunodeficiency mutation databases

The Metabolic and Molecular Bases of Inherited Disease

1995 • 12,086 citations

RAG-1-deficient mice have no mature B and T lymphocytes

1992 • 2,859 citations

A Single Ataxia Telangiectasia Gene with a Product Similar to PI-3 Kinase

1995 • 2,767 citations

Gene Therapy of Human Severe Combined Immunodeficiency (SCID)-X1 Disease

2000 • 2,632 citations

RAG-2-deficient mice lack mature lymphocytes owing to inability to initiate V(D)J rearrangement

1992 • 2,618 citations

T Lymphocyte-Directed Gene Therapy for ADA ⁻ SCID: Initial Trial Results After 4 Years

1995 • 1,464 citations

RAG-1 and RAG-2, Adjacent Genes That Synergistically Activate V(D)J Recombination

1990 • 1,450 citations

The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases

1993 • 1,438 citations

Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia

1993 • 1,338 citations

Interleukin-2 receptor γ chain mutation results in X-linked severe combined immunodeficiency in humans

1993 • 1,317 citations

A Mutation in the Interferon-γ –Receptor Gene and Susceptibility to Mycobacterial Infection

1996 • 1,174 citations

Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene

1999 • 1,168 citations

The V(D)J recombination activating gene, RAG-1

1989 • 1,164 citations

Interleukin-2 Receptor γ Chain: a Functional Component of the Interleukin-7 Receptor

1993 • 1,128 citations

Isolation of a novel gene mutated in Wiskott-Aldrich syndrome

1994 • 1,053 citations

Utilization of the beta and gamma chains of the IL-2 receptor by the novel cytokine IL-15.

1994 • 1,008 citations

Activation of the NADPH oxidase involves the small GTP-binding protein p21rac1

1991 • 961 citations

The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM

1998 • 951 citations

Recommendations for a nomenclature system for human gene mutations

1998 • 936 citations

Scar1 and the related Wiskott–Aldrich syndrome protein, WASP, regulate the actin cytoskeleton through the Arp2/3 complex

1998 • 933 citations

In Vitro Bactericidal Capacity of Human Polymorphonuclear Leukocytes: Diminished Activity in Chronic Granulomatous Disease of Childhood *

1967 • 932 citations

Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID)

1995 • 875 citations

Interferon-γ –Receptor Deficiency in an Infant with Fatal Bacille Calmette–Guérin Infection

1996 • 869 citations

Mutation of Unique Region of Bruton's Tyrosine Kinase in Immunodeficient XID Mice

1993 • 868 citations

Targeted disruption of ATM leads to growth retardation, chromosomal fragmentation during meiosis, immune defects, and thymic lymphoma.

1996 • 851 citations

Gene Therapy in Peripheral Blood Lymphocytes and Bone Marrow for ADA ⁻ Immunodeficient Patients

1995 • 846 citations

The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndrome

1993 • 840 citations

Cloning the gene for an inherited human disorder—chronic granulomatous disease—on the basis of its chromosomal location

1986 • 839 citations

Impairment of Mycobacterial Immunity in Human Interleukin-12 Receptor Deficiency

1998 • 837 citations

CD40 Ligand Gene Defects Responsible for X-Linked Hyper-IgM Syndrome

1993 • 836 citations

Complementation cloning of an MHC class II transactivator mutated in hereditary MHC class II deficiency (or bare lymphocyte syndrome)

1993 • 828 citations

Growing Y-junction carbon nanotubes

1999 • 815 citations

Severe Mycobacterial and Salmonella Infections in Interleukin-12 Receptor-Deficient Patients

1998 • 812 citations

A Perfect Message

1999 • 807 citations

Mutation of Jak3 in a Patient with SCID: Essential Role of Jak3 in Lymphoid Development

1995 • 800 citations

Transposition mediated by RAG1 and RAG2 and its implications for the evolution of the immune system

1998 • 785 citations

Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene

1998 • 759 citations

Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM

1993 • 739 citations

Sharing of the Interleukin-2 (IL-2) Receptor γ Chain Between Receptors for IL-2 and IL-4

1993 • 734 citations

CD40 ligand mutations in X-linked immunodeficiency with hyper-IgM

1993 • 719 citations

Hematopoietic Stem-Cell Transplantation for the Treatment of Severe Combined Immunodeficiency

1999 • 713 citations

Clinical spectrum of X-linked hyper-IgM syndrome

1997 • 657 citations

Interaction of IL-2Rβ and γ _c Chains with Jak1 and Jak3: Implications for XSCID and XCID

1994 • 647 citations

Colocalization of X-Linked Agammaglobulinemia and X-Linked Immunodeficiency Genes

1993 • 631 citations

Involvement of the Jak-3 Janus kinase in signalling by interleukins 2 and 4 in lymphoid and myeloid cells

1994 • 618 citations

Interleukin-2 Receptor γ Chain: a Functional Component of the Interleukin-4 Receptor

1993 • 593 citations

Constitutively Activated Jak-STAT Pathway in T Cells Transformed with HTLV-I

1995 • 571 citations

Human severe combined immunodeficiency: Genetic, phenotypic, and functional diversity in one hundred eight infants

1997 • 543 citations

The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species

1995 • 540 citations

DNA Transposition by the RAG1 and RAG2 Proteins

1998 • 532 citations

RAG Mutations in Human B Cell-Negative SCID

1996 • 530 citations

Expression of MHC class II molecules in different cellular and functional compartments is controlled by differential usage of multiple promoters of the transactivator CIITA

1997 • 510 citations

Inactivating mutations in an SH2 domain-encoding gene in X-linked lymphoproliferative syndrome

1998 • 500 citations

Src homology region 2 domains direct protein-protein interactions in signal transduction.

1990 • 498 citations

ATM associates with and phosphorylates p53: mapping the region of interaction

1998 • 494 citations

Wiskott-Aldrich Syndrome Protein-Deficient Mice Reveal a Role for WASP in T but Not B Cell Activation

1998 • 494 citations

A novel receptor involved in T-cell activation

1995 • 487 citations

A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection

1999 • 483 citations

Interaction between ATM protein and c-Abl in response to DNA damage

1997 • 481 citations

Partial V(D)J Recombination Activity Leads to Omenn Syndrome

1998 • 459 citations

The Role of CD40 Ligand in Costimulation and T‐Cell Activation

1996 • 441 citations

Binding of Transforming Protein, P47 ^gag-crk , to a Broad Range of Phosphotyrosine-containing Proteins

1990 • 433 citations

Atomic Structure of Adenosine Deaminase Complexed with a Transition-State Analog: Understanding Catalysis and Immunodeficiency Mutations

1991 • 430 citations

Mutation in the signal-transducing chain of the interferon-gamma receptor and susceptibility to mycobacterial infection.

1998 • 427 citations

Mutations in the X-linked and autosomal recessive forms of chronic granulomatous disease

1996 • 424 citations

Wiskott-Aldrich syndrome

1968 • 422 citations

The glycoprotein encoded by the X-linked chronic granulomatous disease locus is a component of the neutrophil cytochrome b complex

1987 • 405 citations

Inherited interleukin 12 deficiency in a child with bacille Calmette-Guérin and Salmonella enteritidis disseminated infection.

1998 • 405 citations

Partial interferon-gamma receptor 1 deficiency in a child with tuberculoid bacillus Calmette-Guérin infection and a sibling with clinical tuberculosis.

1997 • 383 citations

Jaks, STATs, Cytokine Signal Transduction, and Immunoregulation: Are We There Yet?

1997 • 381 citations

Neutrophil nicotinamide adenine dinucleotide phosphate oxidase assembly. Translocation of p47-phox and p67-phox requires interaction between p47-phox and cytochrome b558.

1991 • 379 citations

Heterogeneous mutations in the β subunit common to the LFA-1, Mac-1, and p150,95 glycoproteins cause leukocyte adhesion deficiency

1987 • 373 citations

Antigen Receptor–Induced Activation and Cytoskeletal Rearrangement Are Impaired in Wiskott-Aldrich Syndrome Protein–Deficient Lymphocytes

1999 • 367 citations

Activation of the MHC Class II Transactivator CIITA by Interferon-γ Requires Cooperative Interaction between Stat1 and USF-1

1998 • 358 citations

Mice Lacking the MHC Class II Transactivator (CIITA) Show Tissue-Specific Impairment of MHC Class II Expression

1996 • 356 citations

Cytochrome b-245 is a flavocytochrome containing FAD and the NADPH-binding site of the microbicidal oxidase of phagocytes

1992 • 351 citations

Jak-STAT Signaling Induced by the v- abl oncogene

1995 • 341 citations

A novel DNA-binding regulatory factor is mutated in primary MHC class II deficiency (bare lymphocyte syndrome).

1995 • 334 citations

Structure of Cdc42 in complex with the GTPase-binding domain of the ‘Wiskott–Aldrich syndrome’ protein

1999 • 319 citations

Structure of the winged-helix protein hRFX1 reveals a new mode of DNA binding

2000 • 317 citations

Human gene mutation

1993 • 316 citations

Cutting Edge: Human 2B4, an Activating NK Cell Receptor, Recruits the Protein Tyrosine Phosphatase SHP-2 and the Adaptor Signaling Protein SAP

1999 • 308 citations

Molecular cloning of L-JAK, a Janus family protein-tyrosine kinase expressed in natural killer cells and activated leukocytes.

1994 • 301 citations

Expression of Bruton's agammaglobulinemia tyrosine kinase gene, BTK, is selectively down-regulated in T lymphocytes and plasma cells.

1994 • 301 citations

X-Linked Lymphoproliferative Disease: Twenty-Five Years after the Discovery

1995 • 296 citations

The X-linked chronic granulomatous disease gene codes for the β-chain of cytochrome b−245

1987 • 292 citations

Cancer Risks in A-T Heterozygotes

1994 • 287 citations

Role of Src homology 3 domains in assembly and activation of the phagocyte NADPH oxidase.

1994 • 286 citations

Stimulated neutrophils from patients with autosomal recessive chronic granulomatous disease fail to phosphorylate a Mr-44,000 protein

1985 • 286 citations

Assembly of the phagocyte NADPH oxidase: binding of Src homology 3 domains to proline-rich targets.

1994 • 285 citations

Proliferation of adult T cell leukemia/lymphoma cells is associated with the constitutive activation of JAK/STAT proteins

1997 • 278 citations

Influence of the C Terminus of Wiskott-Aldrich Syndrome Protein (WASp) and the Arp2/3 Complex on Actin Polymerization

1999 • 277 citations

Atypical X-Linked Severe Combined Immunodeficiency Due to Possible Spontaneous Reversion of the Genetic Defect in T Cells

1996 • 276 citations

A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients

1998 • 272 citations

Clustering of missense mutations in the ataxia-telanglectasia gene in a sporadic T-cell leukaemia

1997 • 270 citations

European experience of bone-marrow transplantation for severe combined immunodeficiency

1990 • 259 citations

Genotype-Phenotype Relationships in Ataxia-Telangiectasia and Variants

1998 • 257 citations

Host defense molecule polymorphisms influence the risk for immune-mediated complications in chronic granulomatous disease.

1998 • 247 citations

Crystal Structures of the XLP Protein SAP Reveal a Class of SH2 Domains with Extended, Phosphotyrosine-Independent Sequence Recognition

1999 • 244 citations

JAK/STAT signaling by cytokine receptors

1998 • 242 citations

Structure of the Enabled/VASP Homology 1 Domain–Peptide Complex

1999 • 241 citations

2 å crystal structure of an extracellular fragment of human CD40 ligand

1995 • 240 citations

Structure of the PH domain and Btk motif from Bruton's tyrosine kinase: molecular explanations for X-linked agammaglobulinaemia

1997 • 240 citations

Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency

1996 • 229 citations

RFXAP, a novel subunit of the RFX DNA binding complex is mutated in MHC class II deficiency

1997 • 223 citations

Familial disseminated atypical mycobacterial infection in childhood: a human mycobacterial susceptibility gene?

1995 • 217 citations

Crystal Structure of the Interleukin-4/Receptor α Chain Complex Reveals a Mosaic Binding Interface

1999 • 216 citations

Idiopathic disseminated bacillus Calmette-Guérin infection: a French national retrospective study.

1996 • 216 citations

Intramembrane Bis-Heme Motif for Transmembrane Electron Transport Conserved in a Yeast Iron Reductase and the Human NADPH Oxidase

1996 • 209 citations

RFX Proteins, a Novel Family of DNA Binding Proteins Conserved in the Eukaryotic Kingdom

1996 • 200 citations

Fatal Disseminated Mycobacterium smegmatis Infection in a Child with Inherited Interferon Receptor Deficiency

1997 • 197 citations

The p67 Activation Domain Regulates Electron Flow from NADPH to Flavin in Flavocytochromeb 558

1999 • 194 citations

Leukocyte adhesion deficiency: molecular basis and functional consequences.

1988 • 186 citations

Diversity ofATM gene mutations detected in patients with ataxia-telangiectasia

1997 • 180 citations

Partial Interferon‐γ Receptor Signaling Chain Deficiency in a Patient with Bacille Calmette‐Guérin andMycobacterium abscessusInfection

2000 • 178 citations

Defective monocyte costimulation for IFN-gamma production in familial disseminated Mycobacterium avium complex infection: abnormal IL-12 regulation.

1996 • 174 citations

Deficient Expression of Bruton's Tyrosine Kinase in Monocytes From X-Linked Agammaglobulinemia as Evaluated by a Flow Cytometric Analysis and Its Clinical Application to Carrier Detection

1998 • 172 citations

Mutations in Btk in Patients with Presumed X-Linked Agammaglobulinemia

1998 • 171 citations

Ataxia-Telangiectasia: Identification and Detection of Founder-Effect Mutations in the ATM Gene in Ethnic Populations

1998 • 171 citations

A novel leukocyte adhesion deficiency caused by expressed but nonfunctional β2 integrins Mac-1 and LFA-1

1999 • 167 citations

Mutations of the CD40 Ligand Gene and Its Effect on CD40 Ligand Expression in Patients With X-Linked Hyper IgM Syndrome

1998 • 163 citations

RFX-B Is the Gene Responsible for the Most Common Cause of the Bare Lymphocyte Syndrome, an MHC Class II Immunodeficiency

1999 • 162 citations

Complete sequence and structure of the gene for human adenosine deaminase

1986 • 161 citations

Biosynthesis of the Phagocyte NADPH Oxidase Cytochromeb 558

1997 • 156 citations

Mutation Analysis of IL2RG in Human X-Linked Severe Combined Immunodeficiency

1997 • 156 citations

BTKbase, mutation database for X-linked agammaglobulinemia (XLA)

1998 • 155 citations

In a novel form of IFN-γ receptor 1 deficiency, cell surface receptors fail to bind IFN-γ

2000 • 155 citations

Leukocyte Adhesion Deficiency

1989 • 153 citations

Abnormal Regulation of Interferon‐γ, Interleukin‐12, and Tumor Necrosis Factor‐α in Human Interferon‐g Receptor 1 Deficiency

1998 • 150 citations

Molecular and Cellular Aspects of X-Linked Agammaglobulinemia

1995 • 148 citations

JAK3: a novel JAK kinase associated with terminal differentiation of hematopoietic cells.

1994 • 145 citations

Listeria monocytogenes and recurrent mycobacterial infections in a child with complete interferon-γ-receptor (IFNγR1) deficiency

1999 • 142 citations

Cyclosporin A inhibits CD40 ligand expression in T lymphocytes.

1994 • 142 citations

Structural and Functional Basis for JAK3-Deficient Severe Combined Immunodeficiency

1997 • 140 citations

A p47-phox pseudogene carries the most common mutation causing p47-phox- deficient chronic granulomatous disease.

1997 • 138 citations

CORRELATION OF GRANULOMA STRUCTURE WITH CLINICAL OUTCOME DEFINES TWO TYPES OF IDIOPATHIC DISSEMINATED BCG INFECTION

1997 • 135 citations

Studies of the expression of the Wiskott-Aldrich syndrome protein.

1996 • 131 citations

Hairpin Coding End Opening Is Mediated by RAG1 and RAG2 Proteins

1998 • 130 citations

Primary immunodeficiency diseases. A molecular and genetic approach.

1999 • 130 citations

Crystal structure of a cytokine-binding region of gp130

1998 • 125 citations

A structural model for the nucleotide binding domains of the flavocytochrome b_–245 β‐chain

1993 • 124 citations

Adenosine deaminase deficiency: clinical expression, molecular basis, and therapy.

1998 • 123 citations

Defects in Wiskott-Aldrich syndrome blood cells

1996 • 122 citations

Constitutive activation of different Jak tyrosine kinases in human T cell leukemia virus type 1 (HTLV-1) tax protein or virus-transformed cells.

1995 • 121 citations

A pre-transition-state mimic of an enzyme: x-ray structure of adenosine deaminase with bound 1-deazaadenosine and zinc-activated water

1993 • 121 citations

Mutation Screening of the BTK Gene in 56 Families With X-Linked Agammaglobulinemia (XLA): 47 Unique Mutations Without Correlation to Clinical Course

1998 • 120 citations

Autosomal recessive chronic granulomatous disease caused by deletion at a dinucleotide repeat.

1991 • 119 citations

Adenosine Deaminase Deficiency: Genotype-Phenotype Correlations Based on Expressed Activity of 29 Mutant Alleles

1998 • 118 citations

Distinct tyrosine phosphorylation sites in JAK3 kinase domain positively and negatively regulate its enzymatic activity

1997 • 118 citations

Mutations of the humanBTK gene coding for bruton tyrosine kinase in X-linked agammaglobulinemia

1999 • 115 citations

Cytochrome b−245 of the Neutrophil Superoxide-generating System Contains Two Nonidentical Hemes

1995 • 114 citations

IL-2Rγ Gene Microdeletion Demonstrates That Canine X-Linked Severe Combined Immunodeficiency Is a Homologue of the Human Disease

1994 • 113 citations

Human adenosine deaminase. cDNA and complete primary amino acid sequence.

1984 • 111 citations

The Wiskott-Aldrich syndrome

1998 • 110 citations

The V(D)J recombination activating protein RAG2 consists of a six-bladed propeller and a PHD fingerlike domain, as revealed by sequence analysis

1998 • 110 citations

A point mutation in gp91-phox of cytochrome b558 of the human NADPH oxidase leading to defective translocation of the cytosolic proteins p47-phox and p67-phox.

1994 • 109 citations

EAT-2 is a novel SH2 domain containing protein that is up regulated by Ewing's sarcoma EWS/FLI1 fusion gene.

1996 • 109 citations

CD40Lbase: a database of CD40L gene mutations causing X-linked hyper-IgM syndrome

1996 • 109 citations

X-Linked Wiskott–Aldrich Syndrome in a Girl

1998 • 108 citations

156Pro-->Gln substitution in the light chain of cytochrome b558 of the human NADPH oxidase (p22-phox) leads to defective translocation of the cytosolic proteins p47-phox and p67-phox.

1994 • 107 citations

Complementation cloning of an MHC class II transactivator mutated in hereditary MHC class II deficiency (or bare lymphocyte syndrome)

1993 • 107 citations

Ineffective expression of CD40 ligand on cord blood T cells may contribute to poor immunoglobulin production in the newborn

1994 • 106 citations

Epstein--Barr Virus-Negative Boys With Non-Hodgkin Lymphoma Are Mutated in the Sh2D1A Gene, as Are Patients With X-Linked Lymphoproliferative Disease (XLP)

1999 • 105 citations

The Cytosolic Activating Factors p47phox and p67phox Have Distinct Roles in the Regulation of Electron Flow in NADPH Oxidase

1995 • 104 citations

PU.1 as an essential activator for the expression of gp91^phoxgene in human peripheral neutrophils, monocytes, and B lymphocytes

1998 • 103 citations

GTP Binding by Class II Transactivator: Role in Nuclear Import

1999 • 100 citations

Analysis of glycosylation sites on gp91phox, the flavocytochrome of the NADPH oxidase, by site-directed mutagenesis and translation in vitro

1997 • 99 citations

Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease. Contribution of genotype to phenotype.

1993 • 98 citations

Mice lacking the transcription factor CIITA--a second look.

1998 • 95 citations

Molecular cloning of rat JAK3, a novel member of the JAK family of protein tyrosine kinases

1994 • 93 citations

Expression of Wiskott-Aldrich Syndrome Protein (WASP) Gene During Hematopoietic Differentiation

1997 • 92 citations

BTKbase: a database of XLA-causing mutations

1995 • 90 citations

WASPbase: a database of WAS- and XLT-causing mutations

1996 • 89 citations

Disturbed interaction of p21-rac with mutated p67-phox causes chronic granulomatous disease.

1996 • 87 citations

Dual role of RAG2 in V(D)J recombination: catalysis and regulation of ordered Ig gene assembly

1998 • 86 citations

Structural basis for chromosome X-linked agammaglobulinemia: a tyrosine kinase disease.

1994 • 85 citations

Intrathymic Restriction and Peripheral Expansion of the T-Cell Repertoire in Omenn Syndrome

1999 • 84 citations

IL2RGbase: a database of γc-chain defects causing human X-SCID

1996 • 82 citations

X-linked lymphoproliferative syndrome.

1989 • 81 citations

Murine JAK3 is preferentially expressed in hematopoietic tissues and lymphocyte precursor cells

1996 • 80 citations

Sequence of human adenogine deaminase cDNA Including the coding region and a small Intron

1984 • 79 citations

Regulation of JAK3 expression and activation in human B cells and B cell malignancies.

1995 • 76 citations

Organization of the human CD40L gene: implications for molecular defects in X chromosome-linked hyper-IgM syndrome and prenatal diagnosis.

1994 • 76 citations

Identification of Residues on CD40 and Its Ligand Which Are Critical for the Receptor-Ligand Interaction

1995 • 74 citations

Expression of Janus Kinase 3 in Human Endothelial and Other Non-lymphoid and Non-myeloid Cells

1996 • 74 citations

The Bare Lymphocyte Syndrome: Molecular Clues to the Transcriptional Regulation of Major Histocompatibility Complex Class II Genes

1999 • 74 citations

The RAG1/RAG2 Complex Constitutes a 3′ Flap Endonuclease

1999 • 74 citations

Solution Structure of the SH3 Domain from Bruton's Tyrosine Kinase^,

1998 • 74 citations

Somatic mosaicism for a newly identified splice-site mutation in a patient with adenosine deaminase-deficient immunodeficiency and spontaneous clinical recovery.

1994 • 74 citations

X-CGDbase: a database of X-CGD-causing mutations

1996 • 73 citations

Mutation of RFXAP, a Regulator of MHC Class II Genes, in Primary MHC Class II Deficiency

1997 • 69 citations

Residual MHC Class II Expression on Mature Dendritic Cells and Activated B Cells in RFX5-Deficient Mice

1998 • 69 citations

p22-phox-deficient chronic granulomatous disease: reconstitution by retrovirus-mediated expression and identification of a biosynthetic intermediate of gp91-phox

1994 • 67 citations

Fatal Infectious Mononucleosis in Familial Lymphohistiocytosis

1974 • 67 citations

Spontaneous Apoptosis in Lymphocytes From Patients With Wiskott-Aldrich Syndrome: Correlation of Accelerated Cell Death and Attenuated Bcl-2 Expression

1999 • 67 citations

Characterization of cDNAs encoding the murine interleukin 2 receptor (IL-2R) gamma chain: chromosomal mapping and tissue specificity of IL-2R gamma chain expression.

1993 • 65 citations

New mutations, polymorphisms, and rare variants in theATM gene detected by a novel SSCP strategy

1999 • 63 citations

X-linked severe combined immunodeficiency

1991 • 63 citations

Actin polymerization: Where the WASP stings

1999 • 63 citations

MUTbase: maintenance and analysis of distributed mutation databases.

1999 • 62 citations

Analysis of gp39/CD40 Interactions Using Molecular Models and Site-Directed Mutagenesis

1995 • 60 citations

Splice site mutations are a common cause of X-linked chronic granulomatous disease

1992 • 59 citations

CD40 ligand expression deficiency in a female carrier of the X-linked hyper-IgM syndrome as a result of X chromosome lyonization

1999 • 58 citations

Genomic Sequence, Organization, and Chromosomal Localization of HumanJAK3

1996 • 55 citations

BTKbase, mutation database for X-linked agammaglobulinemia (XLA)

1996 • 52 citations

The CIS/JAB family: novel negative regulators of JAK signaling pathways

1998 • 51 citations

Two novel mutations in the MHC class II transactivator CIITA in a second patient from MHC class II deficiency complementation group A

1997 • 51 citations

The class II transactivator CIITA is a transcriptional integrator

1999 • 49 citations

The Mouse Homolog of the Wiskott–Aldrich Syndrome Protein (WASP) Gene Is Highly Conserved and Maps near the Scurfy (sf) Mutation on the X Chromosome

1995 • 46 citations

BTKbase: XLA-mutation registry

1996 • 46 citations

Structural Basis of SH2 Domain Mutations in X-Linked Agammaglobulinemia

1994 • 45 citations

Molecular characterization of leukocyte adhesion deficiency in six patients

1995 • 43 citations

Four novel mutations in the gene encoding gp91-phox of human NADPH oxidase: consequences for oxidase assembly.

2000 • 43 citations

Monocyte function in a severe combined immunodeficient patient with a donor splice site mutation in the Jak3 gene

1996 • 42 citations

Missense mutations affecting a conserved cysteine pair in the TH domain of Btk

1997 • 41 citations

Hot spot mutations in adenosine deaminase deficiency.

1990 • 41 citations

Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism

2000 • 40 citations

Correct splicing despite mutation of the invariant first nucleotide of a 5' splice site: a possible basis for disparate clinical phenotypes in siblings with adenosine deaminase deficiency.

1994 • 39 citations

SH2D1A mutation analysis for diagnosis of XLP in typical and atypical patients

1999 • 37 citations

Absence of MHC class II gene expression in a patient with a single amino acid substitution in the class II transactivator protein CIITA

1999 • 36 citations

Structural organization of the gene for CD40 ligand: molecular analysis for diagnosis of X-linked hyper-IgM syndrome

1995 • 34 citations

A 5′ Regulatory Sequence Containing Two Ets Motifs Controls the Expression of the Wiskott-Aldrich Syndrome Protein (WASP) Gene in Human Hematopoietic Cells

1998 • 34 citations

X-linked lymphoproliferative syndrome

1988 • 32 citations

The Identification and Characterization of Two Promoters and the Complete Genomic Sequence for the Wiskott–Aldrich Syndrome Gene

1999 • 31 citations

JAK3: expression and mapping to chromosome 19p12-13.1.

1997 • 31 citations

BTK the tyrosine kinase affected in X-linked agammaglobulinemia

1997 • 30 citations

Regional localization of CD18, the β‐subunit of the cell surface adhesion molecule LFA‐1, on human chromosome 21 by in situ hybridization

1988 • 29 citations

Interferon-gamma receptor deficiency: relationship between genotype, environment, and phenotype (Review).

1998 • 28 citations

Structural Basis for SH2D1A Mutations in X-Linked Lymphoproliferative Disease

2000 • 28 citations

3. Molecular Basis for X-Linked Immunodeficiencies

1997 • 28 citations

Analysis of mutations and chromosomal localisation of the gene encoding RFX5, a novel transcription factor affected in major histocompatibility complex class II deficiency

1997 • 27 citations

Leukocyte adhesion deficiency mimicking Hirschsprung disease

1995 • 26 citations

Gene Therapy for Severe Combined Immunodeficiency Caused by Adenosine Deaminase Deficiency: Improved Retroviral Vectors for Clinical Trials

1999 • 26 citations

Genetic and molecular definition of complementation group D in MHC class II deficiency

1998 • 25 citations

Prenatal diagnosis of JAK3 deficient SCID

1999 • 25 citations

Molecular analysis of an MHC class II deficiency patient reveals a novel mutation in the RFX5 gene

1999 • 25 citations

WASPbase: a database of WAS- and XLT-causing mutations

1996 • 24 citations

Immunodeficiency mutation databases

2000 • 24 citations

Defective MHC class II expression in an MHC class II deficiency patient is caused by a novel deletion of a splice donor site in the MHC class II transactivator gene

2000 • 24 citations

The molecular basis of MHC class II deficiency and transcriptional control of MHC class II gene expression

1999 • 23 citations

Structural organization and chromosomal mapping of JAK3 locus.

1996 • 22 citations

Molecular and biochemical characterization of JAK3 deficiency in a patient with severe combined immunodeficiency over 20 years after bone marrow transplantation: implications for treatment

1998 • 22 citations

Immunodeficiency mutation databases - a new research tool

1996 • 22 citations

Discoordinate Expression of Invariant Chain and MHC Class II Genes in Class II Transactivator-Transfected Fibroblasts Defective for RFX5

1999 • 22 citations

Class II MHC genes: a model gene regulatory system with great biologic consequences

1999 • 21 citations

Integrins—the glue of life

1999 • 19 citations

IL2RGbase: a database of γc-chain defects causing human X-SCID

1996 • 18 citations

Report from the ESID registry of primary immunodeficiencies

1998 • 14 citations

A common set of factors control the expression of the MHC class II, invariant chain, and HLA-DM genes

1999 • 14 citations

JAK3 Maps to Human Chromosome 19p12 within a Cluster of Proto-oncogenes and Transcription Factors

1997 • 13 citations

A novel mutation in the CYBB gene resulting in an unexpected pattern of exon skipping and chronic granulomatous disease

1999 • 10 citations

Cloning and Chromosomal Mapping of Bovine Interleukin-2 Receptor Gamma Gene

1996 • 8 citations

Immunodeficiency mutation databases — a new research tool

1996 • 4 citations