Published in J Allergy Clin Immunol on October 01, 2007
STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity. N Engl J Med (2009) 2.72
Update in understanding common variable immunodeficiency disorders (CVIDs) and the management of patients with these conditions. Br J Haematol (2009) 2.17
ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia. J Allergy Clin Immunol (2009) 2.09
Granulomatous disease in common variable immunodeficiency. Clin Immunol (2009) 2.07
Selective IgA deficiency. J Clin Immunol (2010) 2.02
The European internet-based patient and research database for primary immunodeficiencies: results 2006-2008. Clin Exp Immunol (2009) 1.81
CD81 gene defect in humans disrupts CD19 complex formation and leads to antibody deficiency. J Clin Invest (2010) 1.79
Immune dysregulation, polyendocrinopathy, enteropathy, x-linked syndrome: a paradigm of immunodeficiency with autoimmunity. Front Immunol (2012) 1.51
Autoimmunity in common variable immunodeficiency. Curr Allergy Asthma Rep (2009) 1.49
Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion. Clin Immunol (2008) 1.46
Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2. Nat Genet (2008) 1.34
Toll-like receptor 7 and 9 defects in common variable immunodeficiency. J Allergy Clin Immunol (2009) 1.26
Germline mutations in NFKB2 implicate the noncanonical NF-κB pathway in the pathogenesis of common variable immunodeficiency. Am J Hum Genet (2013) 1.23
Characterization of immunologic defects in patients with common variable immunodeficiency (CVID) with intestinal disease. Inflamm Bowel Dis (2011) 1.21
Implementing routine testing for severe combined immunodeficiency within Wisconsin's newborn screening program. Public Health Rep (2010) 1.15
Retracted The European internet-based patient and research database for primary immunodeficiencies: update 2011. Clin Exp Immunol (2012) 1.11
Abnormal liver function in common variable immunodeficiency disorders due to nodular regenerative hyperplasia. Clin Exp Immunol (2008) 1.11
Bacillus Calmette-Guérin (BCG) complications associated with primary immunodeficiency diseases. J Infect (2012) 1.06
Prevalence of primary immunodeficiency in Korea. J Korean Med Sci (2012) 1.04
Primary immunodeficiency diseases in Egyptian children: a single-center study. J Clin Immunol (2008) 1.03
Clinical heterogeneity can hamper the diagnosis of patients with ZAP70 deficiency. Eur J Pediatr (2008) 1.00
Inflammation in common variable immunodeficiency is associated with a distinct CD8(+) response to cytomegalovirus. J Allergy Clin Immunol (2011) 1.00
Guidelines for implementation of population-based newborn screening for severe combined immunodeficiency. J Inherit Metab Dis (2010) 0.98
Decrease in phenotypic regulatory T cells in subsets of patients with common variable immunodeficiency. Clin Exp Immunol (2009) 0.98
RAPID: Resource of Asian Primary Immunodeficiency Diseases. Nucleic Acids Res (2008) 0.97
Immunodeficiencies. Clin Exp Immunol (2009) 0.96
Granulomatous disease: distinguishing primary antibody disease from sarcoidosis. Clin Immunol (2008) 0.96
Economic evaluation of immunoglobulin replacement in patients with primary antibody deficiencies. Clin Exp Immunol (2009) 0.92
Clinical immunology review series: an approach to the patient with recurrent infections in childhood. Clin Exp Immunol (2008) 0.91
Nationwide survey of patients with primary immunodeficiency diseases in Japan. J Clin Immunol (2011) 0.91
Understanding systemic lupus erythematosus physiopathology in the light of primary immunodeficiencies. J Clin Immunol (2008) 0.90
Proinflammatory cytokine gene single nucleotide polymorphisms in common variable immunodeficiency. Clin Exp Immunol (2009) 0.89
The role of the innate immune system in granulomatous disorders. Front Immunol (2013) 0.89
Comèl-Netherton syndrome defined as primary immunodeficiency. J Allergy Clin Immunol (2009) 0.88
Autoimmunity in common variable immunodeficiency. J Clin Immunol (2008) 0.88
Gastrointestinal and hepatic manifestations of primary immune deficiency diseases. Saudi J Gastroenterol (2010) 0.88
The prevalences [correction] and patient characteristics of primary immunodeficiency diseases in Turkey--two centers study. J Clin Immunol (2012) 0.87
Chinese patients with defective IL-12/23-interferon-gamma circuit in Taiwan: partial dominant interferon-gamma receptor 1 mutation presenting as cutaneous granuloma and IL-12 receptor beta1 mutation as pneumatocele. J Clin Immunol (2008) 0.87
Pneumococcal vaccine and patients with pulmonary diseases. Am J Med (2014) 0.86
Primary immunodeficiencies unravel critical aspects of the pathophysiology of autoimmunity and of the genetics of autoimmune disease. J Clin Immunol (2008) 0.86
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Longitudinal analysis of immune function in the first 3 years of life in thymectomized neonates during cardiac surgery. Clin Exp Immunol (2008) 0.86
Primary immunodeficiency diseases associated with neurologic manifestations. J Clin Immunol (2011) 0.86
Immunoglobulin G subclass deficiency is the major phenotype of primary immunodeficiency in a Korean adult cohort. J Korean Med Sci (2010) 0.86
An immune globulin intravenous (human), 10% liquid privigen: for the treatment of primary immunodeficiency diseases. P T (2009) 0.85
Lessons learned from phagocytic function studies in a large cohort of patients with recurrent infections. J Clin Immunol (2011) 0.85
The 752delG26 mutation in the RFXANK gene associated with major histocompatibility complex class II deficiency: evidence for a founder effect in the Moroccan population. Eur J Pediatr (2010) 0.85
Mutation@A Glance: an integrative web application for analysing mutations from human genetic diseases. DNA Res (2010) 0.84
Serum bactericidal antibody responses to meningococcal polysaccharide vaccination as a basis for clinical classification of common variable immunodeficiency. Clin Vaccine Immunol (2008) 0.84
Health-related quality of life, anxiety, and depressive symptoms in children with primary immunodeficiencies. Patient Prefer Adherence (2014) 0.83
Response to pneumococcal vaccination in mannose-binding lectin-deficient adults with recurrent respiratory tract infections. Clin Exp Immunol (2014) 0.81
Cervical lymph node diseases in children. GMS Curr Top Otorhinolaryngol Head Neck Surg (2014) 0.81
Potential therapeutic applications of antisense morpholino oligonucleotides in modulation of splicing in primary immunodeficiency diseases. J Immunol Methods (2010) 0.80
History of primary immunodeficiency diseases in iran. Iran J Pediatr (2010) 0.80
Hematopoietic cell transplantation for treatment of primary immune deficiencies. Cell Ther Transplant (2010) 0.80
New approaches to treatment of primary immunodeficiencies: fixing mutations with chemicals. Curr Opin Allergy Clin Immunol (2008) 0.80
The cellular and molecular mechanisms for neutropenia in Barth syndrome. Eur J Haematol (2011) 0.80
Common variable immune deficiency in children--clinical characteristics varies depending on defect in peripheral B cell maturation. J Clin Immunol (2013) 0.79
Primary immunodeficiency diseases in oman: five years' experience at sultan qaboos university hospital. World Allergy Organ J (2012) 0.79
Primary immunodeficiency diseases in different age groups: a report on 1,008 cases from a single Brazilian reference center. J Clin Immunol (2013) 0.79
The clinical utility of molecular diagnostic testing for primary immune deficiency disorders: a case based review. Allergy Asthma Clin Immunol (2010) 0.79
Early-onset chronic inflammatory disease associated with maternal microchimerism. Case Rep Pediatr (2012) 0.79
Immunoglobulin A deficiency in celiac disease in the United States. J Gastroenterol Hepatol (2016) 0.78
Immunocompromised patients: Review of the most common infections happened in 446 hospitalized patients. J Res Med Sci (2014) 0.78
Mannose-binding lectin polymorphisms in common variable immunodeficiency. Clin Exp Med (2009) 0.78
Hematopoietic Stem Cell Transplantation for Severe Combined Immunodeficiency. Curr Pediatr Rep (2015) 0.78
Prediction of candidate primary immunodeficiency disease genes using a support vector machine learning approach. DNA Res (2009) 0.78
Serum bactericidal antibody response 1 year after meningococcal polysaccharide vaccination of patients with common variable immunodeficiency. Clin Vaccine Immunol (2010) 0.78
Common variable immunodeficiency: etiological and treatment issues. Int Arch Allergy Immunol (2009) 0.77
Development of common variable immunodeficiency in IgA- and IgG2-deficient patients with systemic lupus erythematosus. Pediatr Nephrol (2011) 0.77
Approach to the child with recurrent infections. J Family Community Med (2009) 0.77
Long-lasting production of new T and B cells and T-cell repertoire diversity in patients with primary immunodeficiency who had undergone stem cell transplantation: a single-centre experience. J Immunol Res (2014) 0.77
Primary immunodeficiency diseases at reference and high-specialty hospitals in the state of Guanajuato, Mexico. Biomed Res Int (2013) 0.77
Genotype, phenotype, and outcomes of nine patients with T-B+NK+ SCID. Pediatr Transplant (2011) 0.77
Monozygotic twin pair showing discordant phenotype for X-linked thrombocytopenia and Wiskott-Aldrich syndrome: a role for epigenetics? J Clin Immunol (2011) 0.77
BAY 41-2272, a soluble guanylate cyclase agonist, activates human mononuclear phagocytes. Br J Pharmacol (2012) 0.77
Common variable immunodeficiency unmasked by treatment of immune thrombocytopenic purpura with Rituximab. BMC Hematol (2013) 0.76
Asthma and risk of selective IgA deficiency or common variable immunodeficiency: a population-based case-control study. Mayo Clin Proc (2013) 0.76
Recurrent respiratory tract infections in children - analysis of immunological examinations. Cent Eur J Immunol (2015) 0.76
Distribution and clinical features of primary immunodeficiency diseases in Chinese children (2004-2009). J Clin Immunol (2011) 0.76
Clinical characteristics and outcomes of primary immunodeficiencies in Thai children: an 18-year experience from a tertiary care center. J Clin Immunol (2009) 0.75
Primary immunodeficiency in children: report of seven years study. Tanaffos (2011) 0.75
X-linked lymphoproliferative disease presenting as pancytopenia in a 10-month-old boy. Case Rep Med (2010) 0.75
Immunodeficiency among children with recurrent invasive pneumococcal disease. Pediatr Infect Dis J (2015) 0.75
Synthesis and Antimicrobial Activities of His(2-aryl)-Arg and Trp-His(2-aryl) Classes of Dipeptidomimetics. Medchemcomm (2014) 0.75
Primary immunodeficiency investigation in patients during and after hospitalization in a pediatric intensive care unit. Rev Paul Pediatr (2014) 0.75
Clinical course and outcome predictors of critically ill infants with complete DiGeorge anomaly following thymus transplantation. Pediatr Crit Care Med (2014) 0.75
Costs of Hospital Admission on Primary Immunodeficiency Diseases. Iran J Public Health (2017) 0.75
Primary immune deficiency in the intensive care unit: It is never too late to diagnose and treat. Indian J Crit Care Med (2011) 0.75
Population-Based Screening for Selective Immunoglobulin A (IgA) Deficiency in Lithuanian Children Using a Rapid Antibody-Based Fingertip Test. Med Sci Monit (2016) 0.75
Cancers Related to Immunodeficiencies: Update and Perspectives. Front Immunol (2016) 0.75
Major approaches in early diagnostics of common variable immunodeficiency in adults in Moscow. F1000Res (2012) 0.75
Long-Term Tolerability, Safety, and Efficacy of Recombinant Human Hyaluronidase-Facilitated Subcutaneous Infusion of Human Immunoglobulin for Primary Immunodeficiency. J Clin Immunol (2016) 0.75
Study of patients with Hyper-IgM type IV phenotype who recovered spontaneously during late childhood and review of the literature. Eur J Pediatr (2011) 0.75
A mutation in Orai1 causes immune deficiency by abrogating CRAC channel function. Nature (2006) 14.78
Bacterial RNA and small antiviral compounds activate caspase-1 through cryopyrin/Nalp3. Nature (2006) 9.77
Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome. Nature (2007) 7.07
Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly. Cell (2006) 5.33
Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity. Immunity (2006) 4.75
XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome. Nature (2006) 3.30
HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease). Nat Genet (2006) 3.03
A novel human primary immunodeficiency syndrome caused by deficiency of the endosomal adaptor protein p14. Nat Med (2006) 2.85
Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome. PLoS Genet (2007) 2.79
Secretory cytotoxic granule maturation and exocytosis require the effector protein hMunc13-4. Nat Immunol (2007) 2.28
Defective DNA repair and increased genomic instability in Cernunnos-XLF-deficient murine ES cells. Proc Natl Acad Sci U S A (2007) 1.69
A LAD-III syndrome is associated with defective expression of the Rap-1 activator CalDAG-GEFI in lymphocytes, neutrophils, and platelets. J Exp Med (2007) 1.67
A hypomorphic R229Q Rag2 mouse mutant recapitulates human Omenn syndrome. J Clin Invest (2007) 1.67
Lymphopenic mice reconstituted with limited repertoire T cells develop severe, multiorgan, Th2-associated inflammatory disease. Proc Natl Acad Sci U S A (2007) 1.64
Abnormal disulfide-linked oligomerization results in ER retention and altered signaling by TNFR1 mutants in TNFR1-associated periodic fever syndrome (TRAPS). Blood (2006) 1.61
A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation. J Clin Invest (2005) 1.59
Dominant-negative effect of the heterozygous C104R TACI mutation in common variable immunodeficiency (CVID). J Clin Invest (2007) 1.58
Disparate roles of ATR and ATM in immunoglobulin class switch recombination and somatic hypermutation. J Exp Med (2006) 1.03
Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease. Nat Genet (2006) 1.03
The induction of Bim expression in human T-cell blasts is dependent on nonapoptotic Fas/CD95 signaling. Blood (2006) 0.98
Correction of X-linked chronic granulomatous disease by gene therapy, augmented by insertional activation of MDS1-EVI1, PRDM16 or SETBP1. Nat Med (2006) 9.68
Insertional oncogenesis in 4 patients after retrovirus-mediated gene therapy of SCID-X1. J Clin Invest (2008) 9.42
STAT3 mutations in the hyper-IgE syndrome. N Engl J Med (2007) 8.99
Hematopoietic stem cell gene therapy with a lentiviral vector in X-linked adrenoleukodystrophy. Science (2009) 8.80
A serious adverse event after successful gene therapy for X-linked severe combined immunodeficiency. N Engl J Med (2003) 8.59
Transfusion independence and HMGA2 activation after gene therapy of human β-thalassaemia. Nature (2010) 6.95
Sustained correction of X-linked severe combined immunodeficiency by ex vivo gene therapy. N Engl J Med (2002) 6.25
Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity. Science (2011) 6.19
TLR3 deficiency in patients with herpes simplex encephalitis. Science (2007) 5.86
Parallel genotyping of over 10,000 SNPs using a one-primer assay on a high-density oligonucleotide array. Genome Res (2004) 5.59
Single-cell analysis of normal and FOXP3-mutant human T cells: FOXP3 expression without regulatory T cell development. Proc Natl Acad Sci U S A (2006) 5.50
Human CD14dim monocytes patrol and sense nucleic acids and viruses via TLR7 and TLR8 receptors. Immunity (2010) 5.43
Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly. Cell (2006) 5.33
Human blood IgM "memory" B cells are circulating splenic marginal zone B cells harboring a prediversified immunoglobulin repertoire. Blood (2004) 5.10
Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3). Cell (2003) 4.94
Pyogenic bacterial infections in humans with MyD88 deficiency. Science (2008) 4.92
Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes. Am J Hum Genet (2002) 4.84
Pyogenic bacterial infections in humans with IRAK-4 deficiency. Science (2003) 4.80
Genomic instability and myelodysplasia with monosomy 7 consequent to EVI1 activation after gene therapy for chronic granulomatous disease. Nat Med (2010) 4.76
Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity. Immunity (2006) 4.75
Helicobacter pylori SabA adhesin in persistent infection and chronic inflammation. Science (2002) 4.38
Herpes simplex virus encephalitis in human UNC-93B deficiency. Science (2006) 4.26
The EUROclass trial: defining subgroups in common variable immunodeficiency. Blood (2007) 4.14
Transcellular diapedesis is initiated by invasive podosomes. Immunity (2007) 4.06
Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I. J Exp Med (2010) 3.98
Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency. Nat Genet (2003) 3.95
Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells. J Exp Med (2008) 3.85
Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination. Nat Immunol (2003) 3.81
Primary immunodeficiencies: 2009 update. J Allergy Clin Immunol (2009) 3.70
Immune dysregulation, polyendocrinopathy, enteropathy, and X-linked inheritance (IPEX), a syndrome of systemic autoimmunity caused by mutations of FOXP3, a critical regulator of T-cell homeostasis. Curr Opin Rheumatol (2003) 3.69
AID mutant analyses indicate requirement for class-switch-specific cofactors. Nat Immunol (2003) 3.69
B cell-helper neutrophils stimulate the diversification and production of immunoglobulin in the marginal zone of the spleen. Nat Immunol (2011) 3.66
Infection outcomes in patients with common variable immunodeficiency disorders: relationship to immunoglobulin therapy over 22 years. J Allergy Clin Immunol (2010) 3.65
Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. J Exp Med (2011) 3.63
Efficacy of gene therapy for X-linked severe combined immunodeficiency. N Engl J Med (2010) 3.54
Long-term survival and transplantation of haemopoietic stem cells for immunodeficiencies: report of the European experience 1968-99. Lancet (2003) 3.44
Inborn errors of IL-12/23- and IFN-gamma-mediated immunity: molecular, cellular, and clinical features. Semin Immunol (2006) 3.41
Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage. Science (2013) 3.33
XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome. Nature (2006) 3.30
IRF8 mutations and human dendritic-cell immunodeficiency. N Engl J Med (2011) 3.29
Vector integration is nonrandom and clustered and influences the fate of lymphopoiesis in SCID-X1 gene therapy. J Clin Invest (2007) 3.28
Inflammasome activation in NADPH oxidase defective mononuclear phagocytes from patients with chronic granulomatous disease. Blood (2010) 3.23
Allogeneic bone marrow transplantation in mevalonic aciduria. N Engl J Med (2007) 3.18
Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome. J Allergy Clin Immunol (2009) 3.13
Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency. Front Immunol (2011) 3.05
Chronic granulomatous disease: the European experience. PLoS One (2009) 3.04
Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis. N Engl J Med (2011) 2.93
Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies. Lancet (2004) 2.90
De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. Nat Genet (2012) 2.86
Selective predisposition to bacterial infections in IRAK-4-deficient children: IRAK-4-dependent TLRs are otherwise redundant in protective immunity. J Exp Med (2007) 2.85
Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome. Blood (2010) 2.77
Clinical, immunological, and molecular analysis in a large cohort of patients with X-linked agammaglobulinemia: an Italian multicenter study. Clin Immunol (2002) 2.77
STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity. N Engl J Med (2009) 2.72
Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma. J Exp Med (2010) 2.70
Astrovirus encephalitis in boy with X-linked agammaglobulinemia. Emerg Infect Dis (2010) 2.69
X-linked agammaglobulinemia: report on a United States registry of 201 patients. Medicine (Baltimore) (2006) 2.66
Defective NKT cell development in mice and humans lacking the adapter SAP, the X-linked lymphoproliferative syndrome gene product. J Exp Med (2005) 2.66
Analysis of risk factors for myelodysplasias, leukemias and death from infection among patients with congenital neutropenia. Experience of the French Severe Chronic Neutropenia Study Group. Haematologica (2005) 2.66
DNA bar coding and pyrosequencing to analyze adverse events in therapeutic gene transfer. Nucleic Acids Res (2008) 2.64
The transmembrane activator TACI triggers immunoglobulin class switching by activating B cells through the adaptor MyD88. Nat Immunol (2010) 2.55
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. Nat Genet (2011) 2.52
Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced T(H)17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome. J Allergy Clin Immunol (2008) 2.50
Human TRAF3 adaptor molecule deficiency leads to impaired Toll-like receptor 3 response and susceptibility to herpes simplex encephalitis. Immunity (2010) 2.47
Development of population-based newborn screening for severe combined immunodeficiency. J Allergy Clin Immunol (2005) 2.45
Analysis of FOXP3 reveals multiple domains required for its function as a transcriptional repressor. J Immunol (2006) 2.44
B cell-intrinsic signaling through IL-21 receptor and STAT3 is required for establishing long-lived antibody responses in humans. J Exp Med (2010) 2.42