𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV

✍ Scribed by Dietke Buck; Despina Moshous; Régina de Chasseval; Yunmei Ma; Françoise le Deist; Marina Cavazzana-Calvo; Alain Fischer; Jean-Laurent Casanova; Michael R. Lieber; Jean-Pierre de Villartay

Book ID
102162799
Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
248 KB
Volume
36
Category
Article
ISSN
0014-2980

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A patient with mutations in DNA Ligase I
A patient with mutations in DNA Ligase IV: Clinical features and overlap with Nijmegen breakage syndrome
✍ Tawfeg I. Ben-Omran; Karen Cerosaletti; Patrick Concannon; Sheila Weitzman; Marj 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 111 KB 👁 1 views

## Abstract The clinical phenotype of Ligase IV syndrome (LIG4 syndrome), an extremely rare autosomal recessive condition caused by mutations in the __LIG4__ gene, closely resembles that of Nijmegen breakage syndrome (NBS), and is characterized by microcephaly, characteristic facial features, growt

Eleven novel JAK3 mutations in patients
Eleven novel JAK3 mutations in patients with severe combined immunodeficiency—including the first patients with mutations in the kinase domain
✍ Patrizia Mella; Richard Fabian Schumacher; Treena Cranston; Genevieve de Saint B 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 105 KB

Defects of the JAK3-gene are known to cause an autosomal recessive form of severe combined immunodeficiency with almost absent T-cells and functionally defective B-cells (T-B+SCID). The JAK3 protein, an intracellular tyrosine kinase, is crucial for signaltransmission from the common gamma chain to t