プロパージン欠損症
PrepTutorEJDIC
- 〈U〉〈C〉(…の)(量・額などの)不足,欠乏《+『of』(『in』)+『名』》 / 〈C〉不足分,不足量,不足額 / 〈C〉(精神・肉体などの)欠陥
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2012/10/22 22:47:41」(JST)
[Wiki en表示]
| Properdin deficiency |
| Classification and external resources |
| OMIM |
312060 |
Properdin deficiency is a rare X-linked disease in which properdin, an important complement factor, is deficient.[1] Affected individuals are susceptible to fulminant meningococcal disease.
References
- ^ van den Bogaard R, Fijen CA, Schipper MG, de Galan L, Kuijper EJ, Mannens MM (July 2000). "Molecular characterisation of 10 Dutch properdin type I deficient families: mutation analysis and X-inactivation studies". Eur. J. Hum. Genet. 8 (7): 513–8. doi:10.1038/sj.ejhg.5200496. PMID 10909851.
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Immune disorders: Lymphoid and complement immunodeficiency (D80–D85, 279.0–4)
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| Primary |
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Antibody/humoral (B)
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Hypogammaglobulinemia
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- X-linked agammaglobulinemia
- Transient hypogammaglobulinemia of infancy
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Dysgammaglobulinemia
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- IgA deficiency
- IgG deficiency
- IgM deficiency
- Hyper IgM syndrome (2
- 3
- 4
- 5)
- Wiskott-Aldrich syndrome
- Hyper-IgE syndrome
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Other
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- Common variable immunodeficiency
- ICF syndrome
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T cell deficiency (T)
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- thymic hypoplasia: hypoparathyroid (Di George's syndrome)
- euparathyroid (Nezelof syndrome
- Ataxia telangiectasia)
peripheral: Purine nucleoside phosphorylase deficiency
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Severe combined (B+T)
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- x-linked: X-SCID
autosomal: Adenosine deaminase deficiency
- Omenn syndrome
- ZAP70 deficiency
- Bare lymphocyte syndrome
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| Acquired |
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Leukopenia:
Lymphocytopenia |
- Idiopathic CD4+ lymphocytopenia
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| Complement deficiency |
- C1-inhibitor (Angioedema/Hereditary angioedema)
- Complement 2 deficiency/Complement 4 deficiency
- MBL deficiency
- Properdin deficiency
- Complement 3 deficiency
- Terminal complement pathway deficiency
- Paroxysmal nocturnal hemoglobinuria
- Complement receptor deficiency
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cell/phys/auag/auab/comp, igrc
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Sex linkage: X-linked disorders
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X-linked recessive
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| Immune |
- Chronic granulomatous disease (CYBB)
- Wiskott–Aldrich syndrome
- X-linked severe combined immunodeficiency
- X-linked agammaglobulinemia
- Hyper-IgM syndrome type 1
- IPEX
- X-linked lymphoproliferative disease
- Properdin deficiency
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| Hematologic |
- Haemophilia A
- Haemophilia B
- X-linked sideroblastic anemia
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| Endocrine |
- Androgen insensitivity syndrome/Kennedy disease
- KAL1 Kallmann syndrome
- X-linked adrenal hypoplasia congenita
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| Metabolic |
- amino acid: Ornithine transcarbamylase deficiency
- Oculocerebrorenal syndrome
- dyslipidemia: Adrenoleukodystrophy
- carbohydrate metabolism: Glucose-6-phosphate dehydrogenase deficiency
- Pyruvate dehydrogenase deficiency
- Danon disease/glycogen storage disease Type IIb
- lipid storage disorder: Fabry's disease
- mucopolysaccharidosis: Hunter syndrome
- purine-pyrimidine metabolism: Lesch–Nyhan syndrome
- mineral: Menkes disease/Occipital horn syndrome
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| Nervous system |
- X-Linked mental retardation: Coffin–Lowry syndrome
- MASA syndrome
- X-linked alpha thalassemia mental retardation syndrome
- Siderius X-linked mental retardation syndrome
- eye disorders: Color blindness (red and green, but not blue)
- Ocular albinism (1)
- Norrie disease
- Choroideremia
- other: Charcot–Marie–Tooth disease (CMTX2-3)
- Pelizaeus–Merzbacher disease
- SMAX2
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| Skin and related tissue |
- Dyskeratosis congenita
- Hypohidrotic ectodermal dysplasia (EDA)
- X-linked ichthyosis
- X-linked endothelial corneal dystrophy
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| Neuromuscular |
- Becker's muscular dystrophy/Duchenne
- Centronuclear myopathy (MTM1)
- Conradi–Hünermann syndrome
- Emery–Dreifuss muscular dystrophy 1
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| Urologic |
- Alport syndrome
- Dent's disease
- X-linked nephrogenic diabetes insipidus
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| Bone/tooth |
- AMELX Amelogenesis imperfecta
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| No primary system |
- Barth syndrome
- McLeod syndrome
- Smith-Fineman-Myers syndrome
- Simpson–Golabi–Behmel syndrome
- Mohr–Tranebjærg syndrome
- Nasodigitoacoustic syndrome
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X-linked dominant
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- X-linked hypophosphatemia
- Focal dermal hypoplasia
- Fragile X syndrome
- Aicardi syndrome
- Incontinentia pigmenti
- Rett syndrome
- CHILD syndrome
- Lujan–Fryns syndrome
- Orofaciodigital syndrome 1
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UpToDate Contents
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- 1. 補体系の遺伝性疾患 inherited disorders of the complement system
- 2. 髄膜炎菌感染の疫学 epidemiology of neisseria meningitidis infection
English Journal
- Classical complement activation as a footprint for murine and human antiphospholipid antibody-induced fetal loss.
- Cohen D, Buurma A, Goemaere NN, Girardi G, le Cessie S, Scherjon S, Bloemenkamp KW, de Heer E, Bruijn JA, Bajema IM.SourceDepartment of Pathology, Leiden University Medical Centre, The Netherlands. d.cohen@lumc.nl
- The Journal of pathology.J Pathol.2011 Dec;225(4):502-11. doi: 10.1002/path.2893. Epub 2011 Jun 20.
- Recurrent miscarriage, fetal growth restriction and intrauterine fetal death are frequently occurring complications of pregnancy in patients with systemic lupus erythaematosus (SLE) and antiphospholipid syndrome (APS). Murine models show that complement activation plays a pivotal role in antiphospho
- PMID 21688269
Japanese Journal
- Human properdin deficiency has a heterogeneous genetic background.
Related Links
- Clinical test for Properdin deficiency, X-linked offered by DNA Diagnostics Laboratory ... Not provided Variants Of Unknown Significance (VUS) Policy And Interpretation What is the protocol for interpreting a variation as a VUS? Help Description of how the laboratory handles Variants of Unknown Significance.
- Properdin deficiency Overview Treatment Healthcare Services Organizations Research Conferences Your Questions Answered See Disclaimer regarding information on this site. Some links on this page may take you to ...
Related Pictures
★リンクテーブル★
[★]
- 不足、欠乏、欠失、欠如、欠損、不十分。栄養不足、栄養素欠乏、欠乏症。(遺伝子)(染色体内の)遺伝子欠失
- 欠けているもの、不足している物。不足分。不完全なもの、欠点のあるもの
- 関
- absence, agenesis, dearth, defect, defective, deficient, deficit, delete, deletion, deletional, depletion, deprivation, deprive, lack, miss, missing, morphological defect, paucity, scarce, scarcity, starve
