高IgM症候群
WordNet
- a pattern of symptoms indicative of some disease
- a complex of concurrent things; "every word has a syndrome of meanings"
- the 9th letter of the Roman alphabet (同)i
- publicize in an exaggerated and often misleading manner
PrepTutorEJDIC
- (疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態
- 『私は』私が
- iodineの化学記号
- …‘を'刺激する,駆り立てる / (不正な手段で)〈評判など〉‘を'高める,強化する / 不正な手段 / (皮下注射による)麻薬中毒者
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2017/08/03 17:20:48」(JST)
[Wiki en表示]
| Hyper IgM syndrome |
|
| Immunoglobulin M |
| Classification and external resources |
| Specialty |
immunology |
| ICD-10 |
D80.5 |
| ICD-9-CM |
279.05 |
| eMedicine |
ped/2457 |
| MeSH |
D053306 |
|
[edit on Wikidata]
|
Hyper IgM syndromes is a group of primary immune deficiency disorders characterized by defective CD40 signaling; via B cells affecting class switch recombination (CSR) and somatic hypermutation. Immunoglobulin (Ig) class switch recombination deficiencies are characterized by elevated serum Immunoglobulin M (IgM) levels and a considerable deficiency in Immunoglobulins G (IgG), A (IgA) and E (IgE). As a consequence, people with HIGM have decreased concentrations of serum IgG and IgA and normal or elevated IgM, leading to increased susceptibility to infections.[1][2][3]
Contents
- 1 Types
- 2 Signs/symptoms
- 3 Cause
- 4 Pathophysiology
- 5 Diagnosis
- 6 Treatment
- 7 See also
- 8 References
- 9 Further reading
Types
Five types of hyper IgM syndrome have been characterized:
- Hyper-IgM syndrome type 1 (X-linked), characterized by mutations of the CD40LG gene. In this type, T cells cannot tell B cells to switch classes.[4]
- Hyper-IgM syndrome type 2 (autosomal recessive), characterized by mutations of the AICDA gene. In this type, B cells cannot recombine genetic material to change heavy chain production[5]
- Hyper-IgM syndrome type 3 characterized by mutations of the CD40 gene. In this type, B cells cannot receive the signal from T cells to switch classes.[6]
- Hyper-IgM syndrome type 4 which is a defect in class switch recombination downstream of the AICDA gene that does not impair Somatic Hypermutation.[7]
- Hyper-IgM syndrome type 5 characterized by mutations of the UNG gene.[8]
Signs/symptoms
Among the presentation consistent with hyper IgM syndrome are the following:[9][10]
- Infection/Pneumocystis pneumonia (PCP), which is common in infants with hyper IgM syndrome, is a serious illness.[1] PCP is one of the most frequent and severe opportunistic infections in people with weakened immune systems. Many CD40 Ligand Deficiency are first diagnosed after having PCP in their first year of life. The fungus is common and is present in over 70% of healthy people’s lungs, however, Hyper IgM patients are not able to fight it off without the administration of Bactrim[medical citation needed])
- Hepatitis (Hepatitis C)
- Chronic diarrhea
- Hypothyroidism
- Neutropenia
- Arthritis
- Encephalopathy (degenerative)
Cause
Class switch recombination
Different genetic defects cause HIgM syndrome, the vast majority are inherited as an X-linked recessive genetic trait and most sufferers are male.[2]
IgM is the form of antibody that all B cells produce initially, before they undergo class switching due to exposure to a recognized antigen. Healthy B cells efficiently switch to other types of antibodies as needed to attack invading bacteria, viruses, and other pathogens. In people with hyper IgM syndromes, the B cells keep making IgM antibodies because they can't switch to a different antibody. This results in an overproduction of IgM antibodies and an underproduction of IgA, IgG, and IgE.[11][2]
Pathophysiology
In the mechanism one sees that CD40, protein is a receptor for cells of the human immune system, furthermore, is important in immune and inflammatory response.[12] When CD40L is not working properly, this then leads to defective T-cell interaction with monocytes. Consequently, resulting cell-mediated immune response is affected, therefore certain infections have a greater opportunity to invade the human body.[9]
Diagnosis
The diagnosis of hyper IgM syndrome can be done via the following methods and tests:[9]
- MRI
- Chest radiography
- Pulmonary function test
- Lymph node test
- Laboratory test (to measure CD40)
Treatment
In terms of treatment for hyper Igm syndrome there is the use of allogeneic hematopoietic cell transplantation. Additionally anti-microbial therapy, use of granulocyte colony-stimulating factor, immunosuppressants, as well as, other treatments may be needed.[2]
See also
- X-linked agammaglobulinemia
- Common variable immunodeficiency CVID)
References
- ^ a b Etzioni, Amos; Ochs, Hans D. (1 October 2004). "The Hyper IgM Syndrome—An Evolving Story". Pediatric Research. 56 (4): 519–525. ISSN 0031-3998. doi:10.1203/01.PDR.0000139318.65842.4A.
- ^ a b c d Johnson, Judith; Filipovich, Alexandra H.; Zhang, Kejian (1 January 1993). "X-Linked Hyper IgM Syndrome". GeneReviews(®). University of Washington, Seattle. Retrieved 12 November 2016. update 2013
- ^ "Hyper-Immunoglobulin M (Hyper-IgM) Syndromes | NIH: National Institute of Allergy and Infectious Diseases". www.niaid.nih.gov. Retrieved 27 November 2016.
- ^ "OMIM Entry - # 308230 - IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1; HIGM1". www.omim.org. Retrieved 16 November 2016.
- ^ "OMIM Entry - # 605258 - IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2; HIGM2". omim.org. Retrieved 16 November 2016.
- ^ "OMIM Entry - # 606843 - IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3; HIGM3". www.omim.org. Retrieved 16 November 2016.
- ^ Lougaris V, Badolato R, Ferrari S, Plebani A (2005). "Hyper immunoglobulin M syndrome due to CD40 deficiency: clinical, molecular, and immunological features". Immunol. Rev. 203: 48–66. PMID 15661021. doi:10.1111/j.0105-2896.2005.00229.x. subscription needed
- ^ "OMIM Entry - # 608106 - IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5; HIGM5". omim.org. Retrieved 16 November 2016.
- ^ a b c "X-linked Immunodeficiency With Hyper IgM Clinical Presentation: History, Physical, Causes". emedicine.medscape.com. Retrieved 27 November 2016.
- ^ Davies, E Graham; Thrasher, Adrian J (27 November 2016). "Update on the hyper immunoglobulin M syndromes". British Journal of Haematology. 149 (2): 167–180. ISSN 0007-1048. PMC 2855828 . doi:10.1111/j.1365-2141.2010.08077.x.
- ^ Reference, Genetics Home. "X-linked hyper IgM syndrome". Genetics Home Reference. Retrieved 27 November 2016.
- ^ Reference, Genetics Home. "CD40 gene". Genetics Home Reference. Retrieved 27 November 2016.
Further reading
- Strober, Warren; Gottesman, Susan R. (2014). Immunology: Clinical Case Studies and Disease Pathophysiology. John Wiley & Sons. ISBN 9781118966006. Retrieved 27 November 2016.
- Kleinman, Ronald (Professor of Paediatrics (2008). Walker's Pediatric Gastrointestinal Disease. PMPH-USA. ISBN 9781550093643. Retrieved 27 November 2016.
|
Immune disorders: Lymphoid and complement immunodeficiency (D80–D85, 279.0–4)
|
| Primary |
Antibody/humoral
(B) |
| Hypogammaglobulinemia |
- X-linked agammaglobulinemia
- Transient hypogammaglobulinemia of infancy
|
| Dysgammaglobulinemia |
- IgA deficiency
- IgG deficiency
- IgM deficiency
- Hyper IgM syndrome (1
- 2
- 3
- 4
- 5)
- Wiskott–Aldrich syndrome
- Hyper-IgE syndrome
|
| Other |
- Common variable immunodeficiency
- ICF syndrome
|
|
T cell deficiency
(T) |
- thymic hypoplasia: hypoparathyroid (Di George's syndrome)
- euparathyroid (Nezelof syndrome
- Ataxia-telangiectasia)
peripheral: Purine nucleoside phosphorylase deficiency
|
Severe combined
(B+T) |
- x-linked: X-SCID
autosomal: Adenosine deaminase deficiency
- Omenn syndrome
- ZAP70 deficiency
- Bare lymphocyte syndrome
|
|
| Acquired |
|
Leukopenia:
Lymphocytopenia |
- Idiopathic CD4+ lymphocytopenia
|
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
|
|
Medicine
|
|
|
Specialties
and
subspecialties |
|
Surgery
|
- Cardiac surgery
- Cardiothoracic surgery
- Colorectal surgery
- Eye surgery
- General surgery
- Neurosurgery
- Oral and maxillofacial surgery
- Orthopedic surgery
- Hand surgery
- Otolaryngology (ENT)
- Pediatric surgery
- Plastic surgery
- Reproductive surgery
- Surgical oncology
- Thoracic surgery
- Transplant surgery
- Trauma surgery
- Urology
- Vascular surgery
|
|
Internal medicine
|
- Allergy / Immunology
- Angiology
- Cardiology
- Endocrinology
- Gastroenterology
- Geriatrics
- Hematology
- Hospital medicine
- Infectious disease
- Nephrology
- Oncology
- Pulmonology
- Rheumatology
|
|
Obstetrics and gynaecology
|
- Gynaecology
- Gynecologic oncology
- Maternal–fetal medicine
- Obstetrics
- Reproductive endocrinology and infertility
- Urogynecology
|
|
Diagnostic
|
- Radiology
- Interventional radiology
- Nuclear medicine
- Pathology
- Anatomical pathology
- Clinical pathology
- Clinical chemistry
- Clinical immunology
- Cytopathology
- Medical microbiology
- Transfusion medicine
|
|
Other specialties
|
- Addiction medicine
- Adolescent medicine
- Anesthesiology
- Dermatology
- Disaster medicine
- Diving medicine
- Emergency medicine
- Family medicine
- General practice
- Hospital medicine
- Intensive-care medicine
- Medical genetics
- Neurology
- Occupational medicine
- Ophthalmology
- Oral medicine
- Pain management
- Palliative care
- Pediatrics
- Physical medicine and rehabilitation (PM&R)
- Preventive medicine
- Psychiatry
- Public health
- Radiation oncology
- Reproductive medicine
- Sexual medicine
- Sleep medicine
- Sports medicine
- Transplantation medicine
- Tropical medicine
- Venereology
|
|
| Medical education |
- Medical school
- Bachelor of Medicine, Bachelor of Surgery
- Bachelor of Medical Sciences
- Master of Medicine
- Master of Surgery
- Doctor of Medicine
- Doctor of Osteopathic Medicine
- MD–PhD
|
| Related topics |
- Allied health
- Dentistry
- Podiatry
- Physiotherapy
- Nanomedicine
- Molecular oncology
- Personalized medicine
- Veterinary medicine
- Physician
- History of medicine
|
|
|
UpToDate Contents
全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.
English Journal
- Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype.
- Lougaris V1, Faletra F2, Lanzi G3, Vozzi D2, Marcuzzi A2, Valencic E2, Piscianz E2, Bianco A2, Girardelli M2, Baronio M4, Loganes C2, Fasth A5, Salvini F6, Trizzino A7, Moratto D3, Facchetti F8, Giliani S3, Plebani A4, Tommasini A2.
- Clinical immunology (Orlando, Fla.).Clin Immunol.2015 Jul;159(1):33-6. doi: 10.1016/j.clim.2015.04.014. Epub 2015 May 1.
- PMID 25939554
- Hematopoietic stem cell transplant for hyper-IgM syndrome due to CD40L defects: A single-center experience.
- Al-Saud B1,2, Al-Mousa H1,2, Al-Ahmari A2,3, Al-Ghonaium A1, Ayas M3, Alhissi S4, Al-Muhsen S1,5, Al-Seraihy A3, Arnaout R1,2, Al-Dhekri H1, Hawwari A4.
- Pediatric transplantation.Pediatr Transplant.2015 Jun 13. doi: 10.1111/petr.12538. [Epub ahead of print]
- HIGMI is a disease with a high risk for morbidity and mortality. HSCT has been shown to be a curative option. This study retrospectively reviewed and analyzed data from five patients who received HSCT at King Faisal Specialist Hospital & Research Centre (KFSH&RC) in Riyadh, Saudi Arabia, bet
- PMID 26073206
- A novel CD40LG deletion causes the hyper-IgM syndrome with normal CD40L expression in a 6-month-old child.
- López-Herrera G1, Maravillas-Montero JL, Vargas-Hernández A, Berrón-Ruíz L, Ramírez-Sánchez E, Yamazaki-Nakashimada MA, Espinosa-Rosales FJ, Santos-Argumedo L.
- Immunologic research.Immunol Res.2015 May;62(1):89-94. doi: 10.1007/s12026-015-8638-0.
- The X-linked hyper-IgM syndrome (XHIGM) is the most common form of HIGM. Patients are clinically diagnosed on the basis of recurrent sinopulmonary infections, accompanied with low levels of IgG and IgA, normal to elevated levels of IgM, and the presence of peripheral B cells. Here, we have reported
- PMID 25752457
Japanese Journal
- Introduction of a CD40L genomic fragment via a human artificial chromosome vector permits cell-type-specific gene expression and induces immunoglobulin secretion
- YAMADA Hidetoshi,LI Yanze C.,NISHIKAWA Mitsuo,OSHIMURA Mitsuo,INOUE Toshiaki
- Journal of human genetics 53(5), 447-453, 2008-05-01
- NAID 10021248965
- 小児期より感染を繰り返し28歳で初めて診断された1型高IgM症候群
- 小池 道明,押味 和夫,上松 一永,二谷 武
- 臨床血液 = The Japanese Journal of Clinical Hematology 47(10), 1377-1380, 2006-10-30
- NAID 10018306780
Related Pictures
★リンクテーブル★
[★]
- 英
- hyper-IgM syndrome HIMS, hyper-IgM syndrome HIGM
- 同
- IgM増加を伴う抗体欠乏症
原因遺伝子
- avtivation-induced cytosine deaminase
- RNA editing enzyme
概念
病型
- 高IgM症候群1型 HIGM1
- 高IgM症候群2型 HIGM2
- 高IgM症候群3型 HIGM3
遺伝
- 多くの場合。男児のみ。
- 遺伝子座：Xq28
病因
- 免疫グロブリンのクラススイッチ機構の異常→IgM産生可能。IgG、IgA、IgE産生不可
-
- 活性化T細胞上のCD40リガンド(CD154)の遺伝子異常→CD40シグナルを介したB細胞のクラススイッチがおきない
疫学
症状
- XLAと同じく化膿菌の易感染性
- 細胞性免疫不全によるカリニ肺炎の発症
診断
- 血清免疫グロブリン値の検査値
- X連鎖劣性遺伝のものでは、活性化T細胞のCD154分子の有無をフローサイトメトリーで分析
- 確定診断：CD154またはAID遺伝子解析
検査
- 血清IgMは正常または高値
- 血清IgG、IgA、IgEは低値
- 一部の症例では好中球減少
治療
- 免疫グロブリン置換療法
- カリニ肺炎の治療・予防→ST合剤の内服
- 造血幹細胞移植
予後
予防
[★]
高IgM免疫不全症候群
- 関
- hyper-IgM syndrome
[★]
高IgM症候群。hyper-IgM syndrome
[★]
高IgM症候群。hyper-IgM syndrome
[★]
[★]
- 同
- 免疫グロブリンM immunoglobulin M
- 関
- 免疫グロブリン, Ig
臨床関連
増加
[★]
- 関
- excess、excessive、excessively、superfluous、supernumerary、surplus
[★]
免疫グロブリン immunoglobulin
[★]