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「"Magérus-Chatinet A "[Author]」の検索結果

26件中 1件~20件表示    検索結果をPubMedで見る PubMedで見る

Pediatric Evans syndrome is associated with a high frequency of potentially damaging variants in immune genes.

Chronic granulomatous skin lesions leading to a diagnosis of TAP1 deficiency syndrome.

The Autoimmune Lymphoproliferative Syndrome with Defective FAS or FAS-Ligand Functions.

Autoimmune Lymphoproliferative Syndrome-FAS Patients Have an Abnormal Regulatory T Cell (Treg) Phenotype but Display Normal Natural Treg-Suppressive Function on T Cell Proliferation.

Pediatric-onset Evans syndrome: Heterogeneous presentation and high frequency of monogenic disorders including LRBA and CTLA4 mutations.

Lymphadenopathy driven by TCR-Vγ8Vδ1 T-cell expansion in FAS-related autoimmune lymphoproliferative syndrome.

In Vitro Evaluation of the Apoptosis Function in Human Activated T Cells.

Evolution of disease activity and biomarkers on and off rapamycin in 28 patients with autoimmune lymphoproliferative syndrome.

X-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) gene.

LRBA deficiency with autoimmunity and early onset chronic erosive polyarthritis.

Autoimmune Lymphoproliferative Syndrome is associated with deficiency in anti-polysaccharide antibodies production and a disorganisation of the spleen marginal zone.

RAS-associated lymphoproliferative disease evolves into severe juvenile myelo-monocytic leukemia.

Investigation of common variable immunodeficiency patients and healthy individuals using autoimmune lymphoproliferative syndrome biomarkers.

Somatic loss of heterozygosity, but not haploinsufficiency alone, leads to full-blown autoimmune lymphoproliferative syndrome in 1 of 12 family members with FAS start codon mutation.

Diagnosis of autoimmune lymphoproliferative syndrome caused by FAS deficiency in adults.

Autoimmune lymphoproliferative syndrome caused by a homozygous null FAS ligand (FASLG) mutation.

FAS/FAS-L dependent killing of activated human monocytes and macrophages by CD4+CD25- responder T cells, but not CD4+CD25+ regulatory T cells.

A survey of 90 patients with autoimmune lymphoproliferative syndrome related to TNFRSF6 mutation.

Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation.

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