
NCBI . NLM . NIH . GOV {
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Title[redir]:
GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity - PMC
Description:
GATA2 deficiency has a broad phenotype encompassing immunodeficiency, MDS/AML, pulmonary disease, and vascular/lymphatic dysfunction. Early genetic diagnosis is critical to direct clinical management, prophylaxis, transplantation, and family ...
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Keywords {🔍}
gata, doi, patients, mutations, google, scholar, pubmed, mds, hpv, deficiency, clinical, infections, blood, severe, article, pmc, lymphedema, pap, cell, free, mdsaml, infection, figure, years, mutation, age, disease, cells, pulmonary, mac, syndrome, viral, survival, development, ntm, bone, ebv, disseminated, human, marrow, supplemental, family, factor, transcription, myeloid, missense, null, identified, immunodeficiency, early,
Topics {✒️}
lacked anti-gm-csf autoantibodies lack anti-gm-csf autoantibodies biopsy-proven panniculitis/erythema nodosum c-terminal zinc finger biopsy-proven extrapulmonary involvement c-terminal zinc fingers vulvar/anal intraepithelial neoplasia panniculitis/erythema nodosum involving pneumocystis carinii-infected hosts inhaled gm-csf therapy lineage-selective knockout establishes demonstrated intra-alveolar accumulation pmc beta search escape nonsense-mediated decay trophoblast-specific transcriptional regulation ebv-encoded messenger rna interferon-gamma autoantibodies predispose blood web site supplementary materials included cd4 t-cell counts exact log-rank test log-transformed cell counts il-12/interferon-gamma axis kaplan-meier curves transplant-free survival end points differed large granular lymphocytosis generalized genotype-phenotype association hematopoietic stem cells mutation-proven gata2 deficiency identify genotype-phenotype associations lung biopsy hematoxylin regulate trophoblast invasion advanced hiv/aids initial presenting b-cell thyrotropin β gene squamous cell carcinoma t-cell lineage molluscum contagiosum virus trophoblast-specific factors gm-csf receptor molluscum contagiosum infection t-cell lymphopoiesis early-onset breast cancer [google scholar] 23 [google scholar] 36 [google scholar] 50 computed tomography scan transcription factor gata-1 transcription factor gata-3
Questions {❓}
- Human dendritic cell deficiency: the missing ID?
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