The V(D)J recombination process insures the somatic diversification of immunoglobulin and
antigen T cell receptor encoding genes. This reaction is initiated by a DNA double-strand …

The activation-induced cytidine deaminase (AID) gene, specifically expressed in germinal
center B cells in mice, is a member of the cytidine deaminase family. We herein report …

Intracellular ISG15 is an interferon (IFN)-α/β-inducible ubiquitin-like modifier which can
covalently bind other proteins in a process called ISGylation; it is an effector of IFN-α/β-…

Griscelli syndrome (GS) is a rare autosomal recessive disorder that associates hypopigmentation,
characterized by a silver-gray sheen of the hair and the presence of large clusters of …

Autosomal-Recessive Osteopetrosis (ARO) comprises a heterogeneous group of bone
diseases for which mutations in five genes are known as causative. Most ARO are classified as …

Mutations of the Activation-Induced Cytidine Deaminase (AID) gene have been found in
patients with autosomal recessive hyper-IgM (HIGM) syndrome type 2. We retrospectively …

Mutations in DOCK8 result in autosomal recessive Hyper-IgE syndrome with combined
immunodeficiency (CID). However, the natural course of disease, long-term prognosis, and …

Radiosensitive T – B – severe combined immunodeficiency (RS-SCID) is caused by defects
in the nonhomologous end-joining (NHEJ) DNA repair pathway, which results in failure of …

Human malignant infantile osteopetrosis (arOP; MIM 259700) is a genetically heterogenous
autosomal recessive disorder of bone metabolism, which, if untreated, has a fatal outcome. …

Adenosine deaminase (ADA) deficiency is a rare, autosomal-recessive systemic metabolic
disease characterized by severe combined immunodeficiency (SCID). The treatment of …