Cigdem Yilmaz Aydogmus

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Interleukin-12 receptor β1 (IL-12Rβ1) deficiency is the most common form of Mendelian susceptibility to mycobacterial disease (MSMD). We undertook an international survey of 141 patients from 102 kindreds in 30 countries. Among 102 probands, the first infection occurred at a mean age of 2.4 years. In 78 patients, this infection was caused by Bacille(More)
Artemis, DNA ligase IV, DNA protein kinase catalytic subunit, and Cernunnos/XLF genes in nonhomologous end joining pathways of DNA repair mechanisms have been identified as responsible for radiosensitive SCID. Here, we present a 3-year-old girl patient with severe growth retardation, bird-like face, recurrent perianal abscess, pancytopenia, and polydactyly.(More)
Tuberculosis (TB), caused by Mycobacterium tuberculosis (M.tb) and a few related mycobacteria, is a devastating disease, killing more than a million individuals per year worldwide. However, its pathogenesis remains largely elusive, as only a small proportion of infected individuals develop clinical disease either during primary infection or during(More)
BACKGROUND AND OBJECTIVES In the last decade, autosomal recessive IL-12Rβ1 deficiency has been diagnosed in four children with severe tuberculosis from three unrelated families from Morocco, Spain, and Turkey, providing proof-of-principle that tuberculosis in otherwise healthy children may result from single-gene inborn errors of immunity. We aimed to(More)
Cardiac rhabdomyoma often shows spontaneous regression and usually requires only close follow-up. However, patients with symptomatic inoperable rhabdomyomas may be candidates for everolimus treatment. Our patient had multiple inoperable cardiac rhabdomyomas causing serious left ventricle outflow-tract obstruction that showed a dramatic reduction in the size(More)
formed in children; off-pump CABG is rarely preferred for use in pediatric patients because of the small diameter of their vessels (5). Extracardiac vascular involvement (including that involving the aortic root and carotid artery) has been documented in children with familial hypercholesterolemia and the incidence of such involvement increases with the age(More)
The involvement of the central nervous system (CNS) in brucellosis is rare and has a broad range of presentations. Subacute and chronic meningoencephalitis are described as the most common neurologic manifestations. We report a six-year-old boy with culture-proven neurobrucellosis who presented with an acute picture of meningoencephalitis. Cerebrospinal(More)
To the Editor: T lymphocytes detect antigens with the T-cell receptor (TCR) composed of a variable heterodimer (either ab or gd), 2 invariant heterodimers (CD3gε and CD3dε), and an invariant homodimer (CD247 or zz). Because of the crucial role of TCR signaling in thymic selection, mutations in TCR, CD3, or CD247 selectively impair T-cell development, albeit(More)