Diagnosis of Chediak Higashi disease in a 67-year old woman
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Authors: Yarnell, David S.; Roney, Joseph C.; Teixeira, Claudia; Freitas, Maria I.; Cipriano, Ana; Leuschner, Pedro; Krzewski, Konrad; Stephen, Joshi; Dorward, Heidi; Gahl, William A.; Gochuico, Bernadette R.; Toro, Camilo; Malicdan, May C.; Introne, Wendy J.
Abstract
Chediak-Higashi disease is a rare disease caused by bi-allelic mutations in the lysosomal trafficking regulator gene,LYST. Individuals typically present in early childhood with partial oculocutaneous albinism, a bleeding diathesis, recurrent infections secondary to immune dysfunction, and risk of developing hemophagocytic lymphohistiocytosis (HLH). Without intervention, mortality is high in the first decade of life. However, some individuals with milder phenotypes have attenuated hematologic and immunologic presentations, and lower risk of HLH. Both classic and milder phenotypes develop progressive neurodegeneration in early adulthood. Here we present a remarkable patient diagnosed with Chediak-Higashi disease at age 67, many decades after the diagnosis is usually established. Diagnosis was suspected by observing the pathognomonic granules within leukocytes, and confirmed by identification of bi-allelic mutations inLYST, reducedLYSTmRNA expression, enlarged lysosomes within fibroblasts, and decreased NK cell lytic activity. This case further expands the phenotype of Chediak-Higashi disease and highlights the need for increased awareness. Individuals with milder phenotypes may escape early diagnosis, but identification is important for close monitoring of potential complications, and to further our understanding of the function of LYST.
Superfluid transition in disordered dipolar Fermi gases
PHYSICAL REVIEW A
Authors: Matveenko, S., I; Yudson, V., I; Altshuler, B. L.; Shlyapnikov, G., V
Abstract
We consider a weakly interacting two-component Fermi gas of dipolar particles (magnetic atoms or polar molecules) in two-dimensional geometry. The dipole-dipole interaction (together with the short-range interaction at Feshbach resonances) for dipoles perpendicular to the plane of translational motion may provide a superfluid transition. The dipole-dipole scattering amplitude is momentum dependent, which violates the Anderson theorem that claims the independence of the transition temperature on the presence of weak disorder. We have shown that the disorder can strongly increase the critical temperature (up to 10 nK at realistic densities). This opens wide possibilities for the studies of the superfluid regime in weakly interacting Fermi gases, which has not been observed so far.