WebSTAT5b deficiency: Common clinical presentations include growth failure and recurrent bacterial and viral infections, lymphoid interstitial pneumonitis, severe varicella and recurrent bouts of herpes zoster, and chronic diarrhea and eczema. Many clinical features (eczema, diarrhea, thyroiditis) of the STAT5b deficiency are similar to CD25 ... WebSTAT5B Deficiency (Concept Id: C4331952) Growth hormone insensitivity syndrome caused by mutation(s) in the STAT5B gene, encoding signal transducer and activator of …
Immunodeficiency Search
WebThis protein mediates the signal transduction triggered by various cell ligands, such as IL2, IL4, CSF1, and different growth hormones. It has been shown to be involved in diverse … WebAn important link between immune deficiency and NLG in XMEN became apparent with our observation that the decreased expression of the activator receptor “Natural-Killer Group 2, member D” ... Majri SS, et al., STAT5B: A Differential Regulator of the Life and Death of CD4(+) Effector Memory T Cells. J Immunol, 2024. 200 (1): p. 110–118. chocolate ginger cake recipe uk
STAT5b deficiency: lessons from STAT5b gene mutations - PubMed
WebMar 19, 2016 · Compound STAT5 deficiency manifests striking immunological abnormalities in mice, most notably lymphopenia, splenomegaly and autoimmunity. These are typically attributed to its role downstream of the common gamma chain (ɣc) receptor and its dedicated Janus kinase, Jak3 ( Moriggl et al., 1999b; Snow et al., 2003; Yao et al., … WebFeb 1, 2011 · The first STAT5b mutation, reported in 2003, was identified in a 16 year old female who was severely. Diagnosis of STAT5b deficiency. As described above, patients with mutations of the STAT5b gene identified to date resemble patients with GHR defects in the following characteristics: 1) near-normal prenatal growth; 2) profound postnatal … WebThis gene was found to fuse to retinoic acid receptor-alpha ( RARA) gene in a small subset of acute promyelocytic leukemias (APML). The dysregulation of the signaling pathways mediated by this protein may be the cause of the APML. [7] Interactions [ edit] STAT5B has been shown to interact with: Glucocorticoid receptor, [8] Janus kinase 1, [9] chocolate ginger chess pie recipe