Expanding clinical spectrum of female X‐linked lymphoproliferative syndrome 2
نویسندگان
چکیده
منابع مشابه
Expanding the Phenotypic Spectrum of Olmsted Syndrome
are of Slavic origin, suggesting an ancestral mutation propagated through Slavic migration to Northern Romania and Eastern Germany, where our patients are living. Nevertheless, the mutation affects a CpG dinucleotide, which has a high mutation rate from 5methylated CG to TG and its complementary pair CA, suggesting that it could also be recurrent. Altogether, we show that KS patients may harbor...
متن کاملP02-009 - Candle syndrome: expanding spectrum
Introduction CANDLE syndrome is an exceptional inflammatory condition starting within the first months of life, and comprising elevated fever, panniculitis with lipoatrophy, purplish and swollen eyelids, arthralgia, and developmental retardation. Most patients carry homozygous mutations in the PSMB8 gene that impair the assembly of the immunoproteasome (iP) and lead to interferon g deregulation...
متن کاملBranching enzyme deficiency: expanding the clinical spectrum.
IMPORTANCE The neuromuscular presentation of glycogen branching enzyme deficiency includes a severe infantile form and a late-onset variant known as adult polyglucosan body disease. Herein, we describe 2 patients with adult acute onset of fluctuating neurological signs and brain magnetic resonance imaging lesions simulating multiple sclerosis. A better definition of this new clinical entity is ...
متن کاملPyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum.
BACKGROUND Pyridoxine-dependent epilepsy is a rare autosomal recessive epileptic encephalopathy caused by antiquitin (ALDH7A1) deficiency. In spite of adequate seizure control, 75% of patients suffer intellectual developmental disability. Antiquitin deficiency affects lysine catabolism resulting in accumulation of α-aminoadipic semialdehyde/pyrroline 6' carboxylate and pipecolic acid. Beside ne...
متن کاملCOG5-CDG: expanding the clinical spectrum
BACKGROUND The Conserved Oligomeric Golgi (COG) complex is involved in the retrograde trafficking of Golgi components, thereby affecting the localization of Golgi glycosyltransferases. Deficiency of a COG-subunit leads to defective protein glycosylation, and thus Congenital Disorders of Glycosylation (CDG). Mutations in subunits 1, 4, 5, 6, 7 and 8 have been associated with CDG-II. The first pa...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Pediatric Blood & Cancer
سال: 2020
ISSN: 1545-5009,1545-5017
DOI: 10.1002/pbc.28592