WordNet

deviation from the normal or common order or form or rule (同)anomalousness
a person who is unusual (同)unusual person
(astronomy) position of a planet as defined by its angular distance from its perihelion (as observed from the sun)

PrepTutorEJDIC

〈U〉〈C〉変則,例外;異常 / 〈C〉変則的な事態,異例な人(物)

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1. チェディアック・東症候群 chediak higashi syndrome
2. 貧食細胞機能の原発性疾患：概要 primary disorders of phagocytic function an overview
3. 骨髄異形成症候群の臨床症状および診断 clinical manifestations and diagnosis of the myelodysplastic syndromes
4. 好中球二次顆粒欠損症 neutrophil specific granule deficiency
5. 末梢血塗抹標本の評価 evaluation of the peripheral blood smear

English Journal

Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinism.

Dotta L, Parolini S, Prandini A, Tabellini G, Antolini M, Kingsmore SF, Badolato R.AbstractHypopigmentation disorders that are associated with immunodeficiency feature both partial albinism of hair, skin and eyes together with leukocyte defects. These disorders include Chediak Higashi (CHS), Griscelli (GS), Hermansky-Pudlak (HPS) and MAPBP-interacting protein deficiency syndromes. These are heterogeneous autosomal recessive conditions in which the causal genes encode proteins with specific roles in the biogenesis, function and trafficking of secretory lysosomes. In certain specialized cells, these organelles serve as a storage compartment. Impaired secretion of specific effector proteins from that intracellular compartment affects biological activities. In particular, these intracellular granules are essential constituents of melanocytes, platelets, granulocytes, cytotoxic T lymphocytes (CTLs) and natural killer (NK) cells. Thus, abnormalities affect pigmentation, primary hemostasis, blood cell counts and lymphocyte cytotoxic activity against microbial pathogens. Among eight genetically distinct types of HPS, only type 2 is characterized by immunodeficiency. Recently, a new subtype, HPS9, was defined in patients presenting with immunodeficiency and oculocutaneous albinism, associated with mutations in the pallidin-encoding gene, PLDN.Hypopigmentation together with recurrent childhood bacterial or viral infections suggests syndromic albinism. T and NK cell cytotoxicity are generally impaired in patients with these disorders. Specific clinical and biochemical phenotypes can allow differential diagnoses among these disorders before molecular testing. Ocular symptoms, including nystagmus, that are usually evident at birth, are common in patients with HPS2 or CHS. Albinism with short stature is unique to MAPBP-interacting protein (MAPBPIP) deficiency, while hemophagocytic lymphohistiocytosis (HLH) mainly suggests a diagnosis of CHS or GS type 2 (GS2). Neurological disease is a long-term complication of CHS, but is uncommon in other syndromic albinism. Chronic neutropenia is a feature of HPS2 and MAPBPIP-deficiency syndrome, whereas it is usually transient in CHS and GS2. In every patient, an accurate diagnosis is required for prompt and appropriate treatment, particularly in patients who develop HLH or in whom bone marrow transplant is required. This review describes the molecular and pathogenetic mechanisms of these diseases, focusing on clinical and biochemical aspects that allow early differential diagnosis.
Orphanet journal of rare diseases.Orphanet J Rare Dis.2013 Oct 17;8(1):168. [Epub ahead of print]
Hypopigmentation disorders that are associated with immunodeficiency feature both partial albinism of hair, skin and eyes together with leukocyte defects. These disorders include Chediak Higashi (CHS), Griscelli (GS), Hermansky-Pudlak (HPS) and MAPBP-interacting protein deficiency syndromes. These a
PMID 24134793

Neutrophil Homeostasis and Periodontal Health in Children and Adults.

Hajishengallis E, Hajishengallis G.SourceUniversity of Pennsylvania School of Dental Medicine, Department of Preventive and Restorative Sciences, Division of Pediatric Dentistry, Philadelphia, PA 19104, USA.
Journal of dental research.J Dent Res.2013 Oct 4. [Epub ahead of print]
This review summarizes the current state of knowledge on neutrophil basic biology and discusses how the breakdown of neutrophil homeostasis affects periodontal health. The homeostasis of neutrophils is tightly regulated through coordinated bone marrow production, release into the circulation, transm
PMID 24097856