The human syndrome of dendritic cell, monocyte, B and NK lymphoid deficiency

Bigley, Venetia; Haniffa, Muzlifah; Doulatov, Sergei; Wang, Xiao-Nong; Dickinson, Rachel; McGovern, Naomi; Jardine, Laura; Pagan, Sarah; Dimmick, Ian; Chua, Ignatius; Wallis, Jonathan P.; Lordan, Jim; Morgan, Cliff; Kumararatne, Dinakantha; Döffinger, Rainer; Burg, Mirjam van der; Dongen, Jacques J. M. van; Cant, Andrew J.; Dick, John E.; Hambleton, Sophie; Collin, Matthew

doi:10.1084/jem.20101459

Cited by 278 publications

(296 citation statements)

References 30 publications

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“…This could be due to a converted HSC signature or more likely to the loss of the Gata2-deficient HSCs in line with observations in haploinsufficient Gata2 mice 19 and with Gata2-deficient human BM showing a complete absence of the primitive CD38 -cells within the CD34 + progenitor compartment [43][44][45] . Even though we were limited to study progenitor-enriched Gata2-deficient cells we found these cells to exhibit a strong reduction of colony-forming ability and to be desensitized to TGFβ-induced growth arrest.…”

Section: Discussionsupporting

confidence: 80%

A network including TGFβ/Smad4, Gata2, and p57 regulates proliferation of mouse hematopoietic progenitor cells

Billing

Rörby

May

et al. 2016

Experimental Hematology

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Section: Discussionsupporting

confidence: 80%

A network including TGFβ/Smad4, Gata2, and p57 regulates proliferation of mouse hematopoietic progenitor cells

Billing

Rörby

May

et al. 2016

Experimental Hematology

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“…In the absence of DCs, the response induced by CD4 + T cells is impaired and bacterial load uncontrolled (36)(37)(38). Accordingly, individuals with a deficiency of DCs, monocytes, and B and natural killer (NK) cells (DCML deficiency) show increased susceptibility to poorly virulent strains of Mycobaterium spp (39). Similarly, mutations in the IFN regulatory factor 8, which have recently been shown to be associated with a selective loss of CD11c + CD1c + myeloid DCs, result in a remarkable increased susceptibility to disseminated bacillus Calmette-Guérin-osis, arguing for a specific role for DCs in resistance to mycobacteria (40).…”

Section: Discussionmentioning

confidence: 99%

Deciphering the genetic architecture of variation in the immune response toMycobacterium tuberculosisinfection

Barreiro

Tailleux²,

Pai³

et al. 2012

Proc. Natl. Acad. Sci. U.S.A.

243

263

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Tuberculosis (TB) is a major public health problem. One-third of the world's population is estimated to be infected with Mycobacterium tuberculosis (MTB), the etiological agent causing TB, and active disease kills nearly 2 million individuals worldwide every year. Several lines of evidence indicate that interindividual variation in susceptibility to TB has a heritable component, yet we still know little about the underlying genetic architecture. To address this, we performed a genome-wide mapping study of loci that are associated with functional variation in immune response to MTB. Specifically, we characterized transcript and protein expression levels and mapped expression quantitative trait loci (eQTL) in primary dendritic cells (DCs) from 65 individuals, before and after infection with MTB. We found 198 response eQTL, namely loci that were associated with variation in gene expression levels in either untreated or MTB-infected DCs, but not both. These response eQTL are associated with natural regulatory variation that likely affects (directly or indirectly) host interaction with MTB. Indeed, when we integrated our data with results from a genome-wide association study (GWAS) for pulmonary TB, we found that the response eQTL were more likely to be genetically associated with the disease. We thus identified a number of candidate loci, including the MAPK phosphatase DUSP14 in particular, that are promising susceptibility genes to pulmonary TB.

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“…Multiple heterozygous germline mutations have been identified in GATA2 that are associated with a range of phenotypic presentations including MonoMAC [1][2][3] / dendritic cell, monocyte, B-and NK-lymphoid deficiency (DCML deficiency), [4][5] familial myelodysplastic syndrome/acute myelogenous leukemia (MDS/AML), 6 and lymphedema/Emberger syndrome. [7][8][9] The clinical presentation of the patient in the case report by Chu et al, 10 who had a history of M. avium complex (MAC) infection with cytopenias and was diagnosed with aplastic anemia and idiopathic CD4-positive (CD4 + ) lymphocytopenia (ICL), is not uncommon for MonoMAC patients.…”

mentioning

confidence: 99%

MonoMAC and GATA2 deficiency: overlapping clinical and pathological features with aplastic anemia and idiopathic CD4+ lymphocytopenia. Reply to Haematologica 2012;97(4):058669

Calvo¹,

Hickstein²,

Holland³

2012

Haematologica

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The human syndrome of dendritic cell, monocyte, B and NK lymphoid deficiency

Abstract: Human immunodeficiency syndrome with loss of DCs, monocytes, and T reg cells; preservation of Langerhans cells; associated loss of BM multilymphoid progenitors; and overproduction of Flt3 ligand.

Cited by 278 publications

References 30 publications

A network including TGFβ/Smad4, Gata2, and p57 regulates proliferation of mouse hematopoietic progenitor cells

A network including TGFβ/Smad4, Gata2, and p57 regulates proliferation of mouse hematopoietic progenitor cells

Deciphering the genetic architecture of variation in the immune response toMycobacterium tuberculosisinfection

MonoMAC and GATA2 deficiency: overlapping clinical and pathological features with aplastic anemia and idiopathic CD4+ lymphocytopenia. Reply to Haematologica 2012;97(4):058669

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