Primary immunodeficiency update: Part II. Syndromes associated with mucocutaneous candidiasis and noninfectious cutaneous manifestations.

Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia. J Hum Genet (2017) 0.85

Interleukin 17-producing CD4+ effector T cells develop via a lineage distinct from the T helper type 1 and 2 lineages. Nat Immunol (2005) 30.22

A distinct lineage of CD4 T cells regulates tissue inflammation by producing interleukin 17. Nat Immunol (2005) 27.17

Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity. Science (2011) 6.19

Human dectin-1 deficiency and mucocutaneous fungal infections. N Engl J Med (2009) 5.27

A homozygous CARD9 mutation in a family with susceptibility to fungal infections. N Engl J Med (2009) 5.20

Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome. Blood (2011) 4.21

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

Chronic mucocutaneous candidiasis in APECED or thymoma patients correlates with autoimmunity to Th17-associated cytokines. J Exp Med (2010) 3.93

Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. J Exp Med (2011) 3.63

Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia. Nat Genet (2011) 3.41

Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency. Blood (2011) 3.16

STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis. N Engl J Med (2011) 3.11

Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). Nat Genet (2011) 3.05

Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia. Blood (2009) 3.00

Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease. Nat Genet (2003) 2.88

GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity. Blood (2013) 2.82

Human papillomavirus DNA in cutaneous primary and metastasized squamous cell carcinomas from patients with epidermodysplasia verruciformis. Proc Natl Acad Sci U S A (1982) 2.74

CD56bright natural killer (NK) cells: an important NK cell subset. Immunology (2009) 2.25

Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions. N Engl J Med (2012) 2.08

Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56(bright) subset. Blood (2013) 1.93

High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia. Blood (2012) 1.84

A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency. Am J Hum Genet (2012) 1.81

A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection. J Clin Invest (2005) 1.77

Successful allogeneic hematopoietic stem cell transplantation for GATA2 deficiency. Blood (2011) 1.76

An immunodeficiency disease with RAG mutations and granulomas. N Engl J Med (2008) 1.71

A phase 1 clinical trial of long-term, low-dose treatment of WHIM syndrome with the CXCR4 antagonist plerixafor. Blood (2014) 1.66

The CXCR4 antagonist plerixafor corrects panleukopenia in patients with WHIM syndrome. Blood (2011) 1.65

Deep dermatophytosis and inherited CARD9 deficiency. N Engl J Med (2013) 1.63

Continuous G-CSF therapy for isolated chronic mucocutaneous candidiasis: complete clinical remission with restoration of IL-17 secretion. J Allergy Clin Immunol (2013) 1.57

A variant of SCID with specific immune responses and predominance of gamma delta T cells. J Clin Invest (2005) 1.54

Idiopathic CD4+ T lymphopenia without autoimmunity or granulomatous disease in the slipstream of RAG mutations. Blood (2011) 1.53

More than just SCID--the phenotypic range of combined immunodeficiencies associated with mutations in the recombinase activating genes (RAG) 1 and 2. Clin Immunol (2010) 1.52

Invasive fungal infection and impaired neutrophil killing in human CARD9 deficiency. Blood (2013) 1.51

Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome. J Allergy Clin Immunol (2013) 1.49

Hypomorphic Rag mutations can cause destructive midline granulomatous disease. Blood (2010) 1.47

"MYELOKATHEXIS"--A NEW FORM OF CHRONIC GRANULOCYTOPENIA. REPORT OF A CASE. N Engl J Med (1964) 1.44

The CXCR4 antagonist plerixafor is a potential therapy for myelokathexis, WHIM syndrome. Blood (2011) 1.37

The evolution of cellular deficiency in GATA2 mutation. Blood (2013) 1.36

An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis. Immunity (2013) 1.35

Highly variable clinical phenotypes of hypomorphic RAG1 mutations. Pediatrics (2010) 1.30

New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe. J Med Genet (2013) 1.22

A new familial immunodeficiency disorder characterized by severe neutropenia, a defective marrow release mechanism, and hypogammaglobulinemia. Am J Med (1990) 1.17

Gene defect behind APECED: a new clue to autoimmunity. Hum Mol Genet (1998) 1.16

Overview of biochemical abnormalities and molecular genetics of adenosine deaminase deficiency. Pediatr Res (1993) 1.14

Oligoclonal expansion of T lymphocytes with multiple second-site mutations leads to Omenn syndrome in a patient with RAG1-deficient severe combined immunodeficiency. Blood (2005) 1.13

MonoMAC syndrome in a patient with a GATA2 mutation: case report and review of the literature. Clin Infect Dis (2013) 1.08

Multicentric dermatofibrosarcoma protuberans in patients with adenosine deaminase-deficient severe combined immune deficiency. J Allergy Clin Immunol (2011) 1.08

Herpes in STAT1 gain-of-function mutation [corrected]. Lancet (2012) 1.04

Two independent killing mechanisms of Candida albicans by human neutrophils: evidence from innate immunity defects. Blood (2014) 1.03

Description and outcome of a cohort of 8 patients with WHIM syndrome from the French Severe Chronic Neutropenia Registry. Orphanet J Rare Dis (2012) 1.01

A novel STAT1 mutation associated with disseminated mycobacterial disease. J Clin Immunol (2012) 0.98

Autoimmune dysregulation and purine metabolism in adenosine deaminase deficiency. Front Immunol (2012) 0.97

Expanding the spectrum of recombination-activating gene 1 deficiency: a family with early-onset autoimmunity. J Allergy Clin Immunol (2013) 0.97

Oligoclonality, impaired class switch and B-cell memory responses in WHIM syndrome. Clin Immunol (2010) 0.97

Mucocutaneous candidiasis and autoimmunity against cytokines in APECED and thymoma patients: clinical and pathogenetic implications. Eur J Immunol (2011) 0.96

Defect of plasmacytoid dendritic cells in warts, hypogammaglobulinemia, infections, myelokathexis (WHIM) syndrome patients. Blood (2010) 0.92

TH17 deficiency in human disease. J Allergy Clin Immunol (2012) 0.92

A human papillomavirus-associated disease with disseminated warts, depressed cell-mediated immunity, primary lymphedema, and anogenital dysplasia: WILD syndrome. Arch Dermatol (2008) 0.91

The adaptor CARD9 is required for adaptive but not innate immunity to oral mucosal Candida albicans infections. Infect Immun (2013) 0.90

Exome sequencing reveals RAG1 mutations in a child with autoimmunity and sterile chronic multifocal osteomyelitis evolving into disseminated granulomatous disease. J Clin Immunol (2013) 0.90

CARD9 deficiency and spontaneous central nervous system candidiasis: complete clinical remission with GM-CSF therapy. Clin Infect Dis (2014) 0.89

Familial atypical cold urticaria: description of a new hereditary disease. J Allergy Clin Immunol (2009) 0.88

Epstein-Barr virus-associated T-lymphoproliferative disease with hemophagocytic syndrome, followed by fatal intestinal B lymphoma in a young adult female with WHIM syndrome. Warts, hypogammaglobulinemia, infections, and myelokathexis. Ann Hematol (2002) 0.87

B-cell lymphoma in a patient with WHIM syndrome. J Am Acad Dermatol (2001) 0.84

Tolerance and autoimmunity in primary immunodeficiency disease: a comprehensive review. Clin Rev Allergy Immunol (2013) 0.84

Two novel gain-of-function mutations of STAT1 responsible for chronic mucocutaneous candidiasis disease: impaired production of IL-17A and IL-22, and the presence of anti-IL-17F autoantibody. J Immunol (2014) 0.84

Genetics on a WHIM. Br J Haematol (2013) 0.82

Gain-of-function mutations in signal transducer and activator of transcription 1 (STAT1): chronic mucocutaneous candidiasis accompanied by enamel defects and delayed dental shedding. J Allergy Clin Immunol (2014) 0.82

Human APECED; a Sick Thymus Syndrome? Front Immunol (2013) 0.82

Posaconazole treatment of extensive skin and nail dermatophytosis due to autosomal recessive deficiency of CARD9. JAMA Dermatol (2015) 0.81

Tetralogy of fallot is an uncommon manifestation of warts, hypogammaglobulinemia, infections, and myelokathexis syndrome. J Pediatr (2012) 0.78

Generalized verrucosis in a patient with GATA2 deficiency. Br J Dermatol (2014) 0.76

Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy and other primary immunodeficiency diseases help to resolve the nature of protective immunity against chronic mucocutaneous candidiasis. Curr Opin Pediatr (2013) 0.75

Primary immunodeficiency update: Part I. Syndromes associated with eczematous dermatitis. J Am Acad Dermatol (2015) 0.75