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 ... 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.

National Center for Biotechnology Information

WebOct 22, 2024 · STAT5B-deficient patients experience frequent respiratory infections in infancy and typically develop lymphocytic interstitial pneumonia (LIP) during childhood resulting in fatal respiratory insufficiency before the age of 30 [ 1 ]. WebSTAT5B Deficiency (Concept Id: C4331952) Growth hormone insensitivity syndrome caused by mutation(s) in the STAT5B gene, encoding signal transducer and activator of … calopteryx virgo meridionalis

Cincinnati Center for Growth Disorders

WebMar 14, 2012 · A novel STAT5B p.Phe646Ser mutation has been identified in a patient with clinical characteristics of STAT5b deficiency. Only the second STAT5B missense mutation identified, its lack of transcriptional activities despite GH-induced phosphorylation, confirms the crucial role of STAT5b for regulating the expression of IGF1 and provides insights ... WebSTAT5A deficiency results in the loss of PRL-dependent mammary gland development, which is necessary for lactation. STAT5B-deficient mice are sexually dimorphic with growth retardation. In contrast, a good portion of STAT5A/B double knockout mice die within a few weeks of birth, are infertile with defective corpus luteum development, and have ... WebHowever, STAT5A sufficiency cannot compensate for STAT5B defects, and human STAT5B deficiency, a rare autosomal recessive primary immunodeficiency, is characterized by chronic lung disease, growth failure and autoimmunity associated with regulatory T cell (Treg) reduction. coco\u0027s catering jackson tn