Early-onset autoimmunity associated with SOCS1 haploinsufficiency

Hyperreactio Luteinalis with early-onset HELLP syndrome: A case report

Introduction: Hyperreactio Luteinalis (HL) is a rare benign condition in pregnancy which is characterized by bilaterally multicystic ovarian enlargement containing theca lutein cysts caused by increased production of hCG. HL is mostly associated with hydatidiform mole and multiple pregnancies. Correspondence: Azin Alavi, ...

Early Onset of Fragile X Associated Tremor and Ataxia Syndrome: A Case Report from Iran

Background: Different alleles of Fragile X Mental Retardation1 (FMR1) gene with separate molecular etiologies cause Fragile X Syndrome (FXS) and Fragile X-associated Tremor and Ataxia Syndrome (FXTAS). Premutation alleles with 55 to 200 repeats in the FMR1 gene lead to FXTAS. It is carried by 1 in 209 women and 1 in 430 men. FXTAS commonly appears in 50- to 70-year-old adults. Case Presentatio...

Early onset combined immunodeficiency and autoimmunity in patients with loss-of-function mutation in LAT

The adapter protein linker for activation of T cells (LAT) is a critical signaling hub connecting T cell antigen receptor triggering to downstream T cell responses. In this study, we describe the first kindred with defective LAT signaling caused by a homozygous mutation in exon 5, leading to a premature stop codon deleting most of the cytoplasmic tail of LAT, including the critical tyrosine res...

Correction: Early onset combined immunodeficiency and autoimmunity in patients with loss-of-function mutation in LAT

Correction: Early onset combined immunodeficiency and autoimmunity in patients with loss-of-function mutation in LAT Baerbel Keller, Irina Zaidman, O. Sascha Yousefi, Dov Hershkovitz, Jerry Stein, Susanne Unger, Kristina Schachtrup, Mikael Sigvardsson, Amir A. Kuperman, Avraham Shaag, Wolfgang W. Schamel, Orly Elpeleg, Klaus Warnatz, and Polina Stepensky Vol. 213, No. 7, June 27, 2016. https://...

Expanding the spectrum of recombination-activating gene 1 deficiency: a family with early-onset autoimmunity.