Background Severe combined immunodeficiency is within a heterogeneous group of
inherited defects throughout the development of T-and/or B-lymphocytes. Mutations in …

The T-cell receptor excision circle (TREC) assay detects T-cell lymphopenia (TCL) in
newborns and is especially important to identify severe combined immunodeficiency (SCID) …

It is commonly accepted that the presence of high amounts of maternal T cells excludes
Omenn syndrome (OS) in severe combined immunodeficiency (SCID). We report a SCID …

Severe combined immunodeficiency (SCID) patients with an inactivating mutation in
recombination activation gene 1 (RAG1) lack B and T cells due to the inability to rearrange …

The V (D) J recombination, which leads to the somatic rearrangement of variable, diversity,
and joining segments, is the mechanism accountable for the diversity of T cell receptor-and …

Purpose Ras-related C3 botulinum toxin substrate 2 (RAC2) acts as a molecular switch and
has crucial roles in cell signaling and actin dynamics. A broad spectrum of genetic RAC2 …

We report a child with Omenn syndrome (OS) due to homozygous RAG1-C2633T mutations
who had an unusual clinical and immunological presentation. She had delayed onset of OS …

A 38-year-old man presented with significant pruritic skin rash on his legs and eosinophilia
that had been present for 2 years with poor resolution using over-the-counter topical …

The proteins encoded by RAG1 and RAG2 can initiate gene recombination by site-specific
cleavage of DNA in immunoglobulin and T-cell receptor (TCR) loci. We identified a new …

ABSTRACT OS is a severe combined immunodeficiency characterized by erythrodermia
and protracted diarrhea as a result of infiltration of oligoclonal-activated T cells, caused by …