WordNet

very bad in degree or extent; "a severe worldwide depression"; "the house suffered severe damage"
unsparing and uncompromising in discipline or judgment; "a parent severe to the pitch of hostility"- H.G.Wells; "a hefty six-footer with a rather severe mien"; "a strict disciplinarian"; "a Spartan upbringing" (同)spartan
intensely or extremely bad or unpleasant in degree or quality; "severe pain"; "a severe case of flu"; "a terrible cough"; "under wicked fire from the enemys guns"; "a wicked cough" (同)terrible, wicked
join for a common purpose or in a common action; "These forces combined with others"
harvester that heads and threshes and cleans grain while moving across the field
add together from different sources; "combine resources"
set or keep apart; "sever a relationship" (同)break_up
immunological disorder in which some part of the bodys immune system is inadequate and resistance to infectious diseases is reduced
detached by cutting; "cut flowers"; "a severed head"; "an old tale of Anne Bolyn walking the castle walls with her poor cut-off head under her arm" (同)cut_off

PrepTutorEJDIC

(人・法律などが)『厳しい』,厳格な / (態度・表情が)厳粛な,いかめしい / (病気などが)『重い』,危険な / (様式・趣味などが)簡素な,じみな,飾りのない / (人の体に)厳しくこたえる,激しい / (試験などが)難しい,厳しい
…'を'『結合する』,合同する / …'を'兼ね備える;(…と)…'を'兼ね合わさせる《+『名』+『with』+『名』》 / …'を'化合させる;(…と)…'を'化合させる《+『名』+『with』+『名』》 / 『結合する』,連合する,合同する / (…と)化合する《+『with』+『名』》 / 連合,合同;(特に)企業合同,政治連合 / (また『combine harvester』)(刈り取りと脱穀が同時にできる)複式収穫機,コンバイン
(全体から)…‘を'切断する《+『名』+『from』+『名』》 / (いくつかの部分に)…‘を'分ける《+『名』+『in』(『into』)+『名』》 / 〈関係など〉‘を'断つ / 切れる,分かれる,分裂する

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2013/02/13 01:15:11」(JST)

wiki en

Severe combined immunodeficiency (SCID), (also known as "Alymphocytosis," "Glanzmann–Riniker syndrome," "Severe mixed immunodeficiency syndrome," and "Thymic alymphoplasia"^[1]) is a genetic disorder in which both "arms" (B cells and T cells) of the adaptive immune system are impaired due to a defect in one of several possible genes. SCID is a severe form of heritable immunodeficiency. It is also known as the bubble boy disease because its victims are extremely vulnerable to infectious diseases and some of them, such as David Vetter, become famous for living in a sterile environment. SCID is the result of an immune system so highly compromised that it is considered almost absent.

Chronic diarrhea, ear infections, recurrent Pneumocystis jirovecii (previously carinii) pneumonia, and profuse oral candidiasis commonly occur. These babies, if untreated, usually die within 1 year due to severe, recurrent infections unless they have undergone successful Hematopoietic stem cell transplantation.

Prevalence

The most commonly quoted figure for the prevalence of SCID is around 1 in 100,000 births, although this is regarded by some to be an underestimate of the true prevalence;^[2] and a figure of about 1 in 65,000 live births has been reported for Australia.^[3]

Recent studies indicate that one in every 2,500 children in the Navajo population inherit severe combined immunodeficiency. This condition is a significant cause of illness and death among Navajo children.^[4] Ongoing research reveals a similar genetic pattern among the related Apache people.^[5]

Types

Type	Description
X-linked severe combined immunodeficiency	Most cases of SCID are due to mutations in the gene encoding the common gamma chain (γ_c), a protein that is shared by the receptors for interleukins IL-2, IL-4, IL-7, IL-9, IL-15 and IL-21. These interleukins and their receptors are involved in the development and differentiation of T and B cells. Because the common gamma chain is shared by many interleukin receptors, mutations that result in a non-functional common gamma chain cause widespread defects in interleukin signalling. The result is a near complete failure of the immune system to develop and function, with low or absent T cells and NK cells and non-functional B cells. The common gamma chain is encoded by the gene IL-2 receptor gamma, or IL-2Rγ, which is located on the X-chromosome. For this reason, immunodeficiency caused by mutations in IL-2Rγ is known as X-linked severe combined immunodeficiency. The condition is inherited in an X-linked recessive pattern.
Adenosine deaminase deficiency	The second most common form of SCID after X-SCID is caused by a defective enzyme, adenosine deaminase (ADA), necessary for the breakdown of purines. Lack of ADA causes accumulation of dATP. This metabolite will inhibit the activity of ribonucleotide reductase, the enzyme that reduces ribonucleotides to generate deoxyribonucleotides. The effectiveness of the immune system depends upon lymphocyte proliferation and hence dNTP synthesis. Without functional ribonucleotide reductase, lymphocyte proliferation is inhibited and the immune system is compromised.
Purine nucleoside phosphorylase deficiency	An autosomal recessive disorder involving mutations of the purine nucleoside phosphorylase (PNP) gene. PNP is a key enzyme in the purine salvage pathway. Impairment of this enzyme causes elevated dGTP levels resulting in T-cell toxicity and deficiency.
Omenn syndrome	The manufacture of immunoglobulins requires recombinase enzymes derived from the recombination activating genes RAG-1 and RAG-2. These enzymes are involved in the first stage of V(D)J recombination, the process by which segments of a B cell or T cell's DNA are rearranged to create a new T cell receptor or B cell receptor (and, in the B cell's case, the template for antibodies). Certain mutations of the RAG-1 or RAG-2 genes prevent V(D)J recombination, causing SCID.^[6]
Bare lymphocyte syndrome	MHC class II is not expressed on the cell surface of all antigen presenting cells. Autosomal recessive. The MHC-II gene regulatory proteins are what is altered, not the MHC-II protein itself.
JAK3	Janus kinase-3 (JAK3) is an enzyme that mediates transduction downstream of the γ_c signal. Mutation of its gene causes SCID.^[7]
Artemis/DCLRE1C	Although researchers have identified about a dozen genes that cause SCID, the Navajo and Apache population has the most severe form of the disorder. This is due to the lack of a gene designated Artemis. Without the gene, children's bodies are unable to repair DNA or develop disease-fighting cells.^[4]^[5]

Detection

Several US states are performing pilot studies to diagnose SCID in newborns through the use of T-cell recombinant excision circles.^{[citation needed]} Wisconsin and Massachusetts (as of February 1, 2009) screen newborns for SCID.^[8]^[9] Michigan began screening for SCID in October 2011^[10] Despite these pilot programs, standard testing for SCID is not currently available in newborns due to the diversity of the genetic defect. Some SCID can be detected by sequencing fetal DNA if a known history of the disease exists. Otherwise, SCID is not diagnosed until about six months of age, usually indicated by recurrent infections. The delay in detection is because newborns carry their mother's antibodies for the first few weeks of life and SCID babies look normal.

Treatment

The most common treatment for SCID is bone marrow transplantation, which has been successful using either a matched related or unrelated donor, or a half-matched donor, who would be either parent. The half-matched type of transplant is called haploidentical and was performed by Memorial Sloan Kettering Cancer Center in New York and also Duke University Medical Center which currently does the highest number of these transplants of any center in the world.^[11] Haploidentical bone marrow transplants require the donor marrow to be depleted of all mature T cells to avoid the occurrence of graft-versus-host disease (GVHD).^[12] Consequently, a functional immune system takes longer to develop in a patient who receives a haploidentical bone marrow transplant compared to a patient receiving a matched transplant.^[12] David Vetter, the original "bubble boy", had one of the first transplantations, but eventually died because of an unscreened virus, Epstein-Barr (tests were not available at the time), in his newly transplanted bone marrow from his sister, an unmatched bone marrow donor. Today, transplants done in the first three months of life have a high success rate. Physicians have also had some success with in utero transplants done before the child is born and also by using cord blood which is rich in stem cells. In utero transplants allow for the fetus to develop a functional immune system in the sterile environment of the uterus;^[13] however complications such as GVHD would be difficult to detect or treat if they were to occur.^[14]

More recently gene therapy has been attempted as an alternative to the bone marrow transplant. Transduction of the missing gene to hematopoietic stem cells using viral vectors is being tested in ADA SCID and X-linked SCID. In 1990, four-year-old Ashanthi DeSilva became the first patient to undergo successful gene therapy. Researchers collected samples of Ashanthi's blood, isolated some of her white blood cells, and used a virus to insert a healthy adenosine deaminase (ADA) gene into them. These cells were then injected back into her body, and began to express a normal enzyme. This, augmented by weekly injections of ADA, corrected her deficiency. However, the concurrent treatment of ADA injections may impair the success of gene therapy, since transduced cells will have no selective advantage to proliferate if untransduced cells can survive in the presence of the injected ADA.^[15]

In 2000, a gene therapy "success" resulted in SCID patients with a functional immune system. These trials were stopped when it was discovered that two of ten patients in one trial had developed leukemia resulting from the insertion of the gene-carrying retrovirus near an oncogene. In 2007, four of the ten patients have developed leukemias.^[16] Work aimed at improving gene therapy is now focusing on modifying the viral vector to reduce the likelihood of oncogenesis, and using zinc-finger nucleases to more specifically target gene insertion.^[17] No leukemia cases have yet been seen in trials of ADA-SCID, which does not involve the gamma c gene that may be oncogenic when expressed by a retrovirus.

Trial treatments of SCID have been gene therapy's first success; since 1999, gene therapy has restored the immune systems of at least 17 children with two forms (ADA-SCID and X-SCID) of the disorder.

There are also some non-curative methods for treating SCID. Reverse isolation involves the use of laminar air flow and mechanical barriers (to avoid physical contact with others) to isolate the patient from any harmful pathogens present in the external environment.^[18] A non-curative treatment for patients with ADA-SCID is enzyme replacement therapy, in which the patient is injected with polyethyleneglycol-coupled adenosine deaminase (PEG-ADA) which metabolizes the toxic substrates of the ADA enzyme and prevents their accumulation.^[15] Treatment with PEG-ADA may be used to restore T cell function in the short term, enough to clear any existing infections before proceeding with curative treatment such as a bone marrow transplant.^[19]

SCID in animals

Main article: Severe combined immunodeficiency (non-human)

SCID mice were and still are used in disease, vaccine, and transplant research, especially as animal models for testing the safety of new vaccines or therapeutic agents in people with weakened immune systems.

An animal variation of the disease, an autosomal recessive gene with clinical signs similar to the human condition, also affects the Arabian horse. In horses, the condition remains a fatal disease, as the animal inevitably succumbs to an opportunistic infection within the first four to six months of life.^[20] However, carriers, who themselves are not affected by the disease, can be detected with a DNA test. Thus careful breeding practices can avoid the risk of an affected foal being produced.^[21]

Another animal with well-characterized SCID pathology is the dog. There are two known forms, an X-linked SCID in Basset Hounds that has similar ontology to X-SCID in humans,^[22] and an autosomal recessive form seen in one line of Jack Russell Terriers that is similar to SCID in Arabian horses and mice.^[23]

References

^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.
^ http://www.cga.ct.gov/2008/rpt/2008-R-0564.htm
^ Yee A, De Ravin SS, Elliott E, Ziegler JB (2008). "Severe combined immunodeficiency: A national surveillance study". Pediatr Allergy Immunol 19 (4): 298–302. doi:10.1111/j.1399-3038.2007.00646.x. PMID 18221464. http://www.blackwell-synergy.com/openurl?genre=article&sid=nlm:pubmed&issn=0905-6157&date=2008&volume=&issue=&spage=.
^ ^a ^b "News From Indian Country - A rare and once-baffling disease forces Navajo parents to cope". http://indiancountrynews.net/index.php?option=com_content&task=view&id=2109&Itemid=1. Retrieved 2008-03-01.
^ ^a ^b Li L, Moshous D, Zhou Y et al. (2002). "A founder mutation in Artemis, an SNM1-like protein, causes SCID in Athabascan-speaking Native Americans". J. Immunol. 168 (12): 6323–9. PMID 12055248. http://www.jimmunol.org/cgi/pmidlookup?view=long&pmid=12055248.
^ Haq IJ, Steinberg LJ, Hoenig M et al. (2007). "GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T-B- SCID in patients with defects in RAG genes". Clin. Immunol. 124 (2): 165–9. doi:10.1016/j.clim.2007.04.013. PMID 17572155. http://linkinghub.elsevier.com/retrieve/pii/S1521-6616(07)01181-3.
^ Pesu M, Candotti F, Husa M, Hofmann SR, Notarangelo LD, O'Shea JJ (2005). "Jak3, severe combined immunodeficiency, and a new class of immunosuppressive drugs". Immunol. Rev. 203: 127–42. doi:10.1111/j.0105-2896.2005.00220.x. PMID 15661026. http://www.blackwell-synergy.com/openurl?genre=article&sid=nlm:pubmed&issn=0105-2896&date=2005&volume=203&spage=127.
^ "Wisconsin First State in Nation to Screen All Newborns for Severe Combined Immune Deficiency (SCID) or "Bubble Boy Disease"". http://www.slh.wisc.edu/news/scid_080402.dot.
^ "NEWBORN SCREENING FOR PRIMARY IMMUNODEFICIENCY DISEASE". http://www.cga.ct.gov/2008/rpt/2008-R-0564.htm.
^ "MDCH Adds Severe Combined Immunodeficiency (SCID) to Newborn Screening". http://www.michigan.gov/mdch/0,4612,7-132--263275--,00.html.
^ "Severe Combined Immunodeficiency (SCID): Immunodeficiency Disorders: Merck Manual Professional". http://www.merck.com/mmpe/sec13/ch164/ch164l.html. Retrieved 2008-03-01.
^ ^a ^b Chinen J, Buckley RH (2010). "Transplantation immunology: solid organ and bone marrow". J. Allergy Clin. Immunol. 125 (2 Suppl 2): S324-35.
^ Vickers, Peter S. (2009). Severe combined immune deficiency: early hospitalisation and isolation. Hoboken NJ: John Wiley & Sons, 29-47. ISBN 978-0-470-74557-1.
^ Buckley RH (2004). "Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution". Annu. Rev. Immunol. 22 (1): 625-655.
^ ^a ^b Fischer A, Hacein-Bey S, Cavazzana-Calvo M (2002). "Gene therapy of severe combined immunodeficiencies". Nat Rev Immunol 2 (8): 615-621.
^ Press release from the European Society of Gene Therapy
^ Cavazzana-Calvo M, Fischer A (2007). "Gene therapy for severe combined immunodeficiency: are we there yet?". J. Clin. Invest. 117 (6): 1456-1465.
^ Tamaroff MH, Nir Y, Straker N (1986). "Children reared in a reverse isolation environment: effects on cognitive and emotional development". J. Autism Dev. Disord. 16 (4): 415-424.
^ van der Burg M, Gennery AR (2011). "Educational paper. The expanding clinical and immunological spectrum of severe combined immunodeficiency". Eur. J. Pediatr. 170 (5): 561-571.
^ FOAL.org, an organization promoting research into genetic lethal diseases in horse
^ "The New DNA Test for Severe Combined Immunodeficiency (SCID) in Arabian Horses"
^ Henthorn PS, Somberg RL, Fimiani VM, Puck JM, Patterson DF, Felsburg PJ (1994). "IL-2R gamma gene microdeletion demonstrates that canine X-linked severe combined immunodeficiency is a homologue of the human disease" (abstract only). Genomics 23 (1): 69–74. doi:10.1006/geno.1994.1460. PMID 7829104. http://www.sciencedirect.com/science?_ob=ArticleURL&_udi=B6WG1-45PMSC1-FK&_user=409397&_rdoc=1&_fmt=&_orig=search&_sort=d&view=c&_acct=C000019483&_version=1&_urlVersion=0&_userid=409397&md5=30a567571392ace6f5a8bac4114b2fd5.
^ Perryman LE (2004). "Molecular pathology of severe combined immunodeficiency in mice, horses, and dogs". Vet. Pathol. 41 (2): 95–100. doi:10.1354/vp.41-2-95. PMID 15017021.

External links

Learning About Severe Combined Immunodeficiency (SCID) NIH
Buckley RH (2004). "Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution". Annu Rev Immunol 22: 625–55. doi:10.1146/annurev.immunol.22.012703.104614. PMID 15032591.
Chinen J, Puck JM (2004). "Successes and risks of gene therapy in primary immunodeficiencies". J Allergy Clin Immunol 113 (4): 595–603; quiz 604. doi:10.1016/j.jaci.2004.01.765. PMID 15100660.
Church AC (2002). "X-linked severe combined immunodeficiency". Hosp Med 63 (11): 676–80. PMID 12474613.
Gennery AR, Cant AJ (2001). "Diagnosis of severe combined immunodeficiency". J Clin Pathol 54 (3): 191–5. doi:10.1136/jcp.54.3.191. PMC 1731376. PMID 11253129. //www.ncbi.nlm.nih.gov/pmc/articles/PMC1731376/.

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.

1. 重度複合型免疫不全（SCID）：概要 severe combined immunodeficiency scid an overview
2. 重度複合型免疫不全（SCID）：特定の欠損 severe combined immunodeficiency scid specific defects
3. X連鎖重度複合型免疫不全（SCID） x linked severe combined immunodeficiency scid
4. 新生児における原発性免疫不全のスクリーニング newborn screening for primary immunodeficiencies
5. JAK3欠損を伴う重度複合型免疫不全（SCID） severe combined immunodeficiency scid with jak3 deficiency

English Journal

Human blood outgrowth endothelial cells improve islet survival and function when co-transplanted in a mouse model of diabetes.

Coppens V, Heremans Y, Leuckx G, Suenens K, Jacobs-Tulleneers-Thevissen D, Verdonck K, Lahoutte T, Luttun A, Heimberg H, De Leu N.SourceDiabetes Research Center, Vrije Universiteit Brussel, Laarbeeklaan 103, 1090, Brussels, Belgium.
Diabetologia.Diabetologia.2013 Feb;56(2):382-90. doi: 10.1007/s00125-012-2754-3. Epub 2012 Oct 23.
AIMS/HYPOTHESIS: As current islet-transplantation protocols suffer from significant graft loss and dysfunction, strategies to sustain the long-term benefits of this therapy are required. Rapid and adequate oxygen and nutrient delivery by blood vessels improves islet engraftment and function. The pre
PMID 23090187

Intrathymic progenitor cell transplantation across histocompatibility barriers results in the persistence of early thymic progenitors and T cell differentiation.

de Barros SC, Vicente R, Chebli K, Jacquet C, Zimmermann VS, Taylor N.SourceInstitut de Genetique Moleculaire de Montpellier, CNRS UMR 5535/IFR 122, Montpellier, France.
Blood.Blood.2013 Jan 10. [Epub ahead of print]
Donor hematopoietic stem cells (HSCs) can correct T cell deficiencies in severe combined immunodeficiency patients by replacing resident thymus cells. However, as those progenitors that naturally migrate to the thymus are not capable of supporting long-term thymopoiesis, a successful transplant is
PMID 23305740

Identification of a novel mutation in ZAP70 and prenatal diagnosis in a Turkish family with severe combined immunodeficiency disorder.

Karaca E, Karakoc-Aydiner E, Bayrak OF, Keles S, Sevli S, Barlan IB, Yuksel A, Chatila TA, Ozen M.SourceBaylor College of Medicine, Department of Molecular and Human Genetics, Houston, TX, USA.
Gene.Gene.2013 Jan 10;512(2):189-93. doi: 10.1016/j.gene.2012.10.062. Epub 2012 Nov 2.
Protein tyrosine kinases (PTKs) play an important role in T cell development and activation. In vitro and in vivo defects, resulting in variable deficiencies in thymic development and in T cell antigen receptor (TCR) signal transduction, in PTKs have been shown. ZAP70, one of those PTKs, is a 70-kDa
PMID 23124046

Japanese Journal

Successful reduced-intensity SCT from unrelated cord blood in three patients with X-linked SCID

Iguchi Akihiro,Kawamura Nobuaki,Kobayashi Ryoji,Takezaki Shun-ichiro,Ohkura Yuka,Inamoto Jun,Ohshima Junjiro,Ichikawa Mizuho,Sato Tomonobu,Kaneda Makoto,Cho Yuko,Yamada Masafumi,Kobayashi Ichiro,Ariga Tadashi
Bone Marrow Transplantation 46(12), 1526-1531, 2011-12
… We described three boys with X-linked severe combined immunodeficiency (X-SCID) who were successfully treated by reduced-intensity stem cell transplantation from unrelated cord blood (CB). …
NAID 120004123464

RD遺伝子の特異的欠如の検出により播種性BCG感染症と診断した重症複合型免疫不全症の1例

赤井畑美津子,橋本浩一,川崎幸彦,細矢光亮,森修一,錫谷達夫
感染症学雑誌 : 日本伝染病学会機関誌 : the journal of the Japanese Association for Infectious Diseases 85(2), 176-179, 2011-03-20
NAID 10029687726

Related Pictures

★リンクテーブル★

リンク元	「免疫不全症候群」「重症複合型免疫不全症」「severe combined immunodeficient」「SCID」
拡張検索	「X-linked severe combined immunodeficiency」「radiation-sensitive severe combined immunodeficiency」「severe combined immunodeficiency disease」「severe combined immunodeficiency syndrome」
関連記事	「combine」「severe」「sever」「immunodeficiency」「combined」

「免疫不全症候群」

Severe Combined Immune Deficiency
	Classification and external resources
ICD-10	D81.0-D81.2
ICD-9	279.2
DiseasesDB	11978
eMedicine	med/2214
MeSH	D016511

　　[★]

英: immunodeficiency syndrome, immunodeficiency
同: 免疫不全症、免疫不全 immune deficiency、immunodeficiency disease immunodeficiency disorder ID
関: 先天性免疫不全症、原発性免疫不全症、免疫不全患者

先天性免疫不全症候群

重症複合免疫不全症 severe combined immunodeficiency SCID：重篤で主なものはX連鎖劣性遺伝。T細胞-でB細胞とNK細胞は病型ごとに欠損

1. T-B+ SCID
2. T-B- SCID
3. 特殊型：Omenn症候群、X連鎖型高IgM症候群(高IgM症候群)

抗体欠乏を主徴とする免疫不全症：B細胞の内因性欠陥またはT－B細胞相互間の異常により，抗体産生が障害された疾患群で，最も頻度が高い(原発性免疫不全症の約45%)

無ガンマグロブリン血症

X連鎖無ガンマグロブリン血症()
常染色体劣性無ガンマグロブリン血症

IgGサブクラス欠損症/IgGサブクラス欠乏症(IgG subclass deficiency)/Ig heavy-chain gene deletions
IgA欠損症

その他

1. Wiskott-Aldrich症候群 WAS：血小板減少、免疫低下、湿疹。X連鎖劣性遺伝。WASpをコードする遺伝子の変異による。T細胞における免疫シナプス形成不全が本態。IgG,IgMは正常～低下、IgE, IgAは増加。リンパ球数は漸減。
2. DNA修復の欠陥

毛細血管拡張性運動失調症 ataxia telangiectasia AT：毛細血管拡張、小脳失調症、。常染色体劣性遺伝。ATM蛋白は細胞周期制御、DNA調節に関与していると考えられ、遺伝子異常により(in vitroで？)放射線高感受性、細胞周期の異常、染色体脆弱性が認められる。T細胞減少、IgA,IgE減少。IgG2,IgG4も減少。

3. 胸腺の欠損

ディジョージ症候群 DiGeorge syndrome

4. immuno-osseous dysplasia

5. 高IgE症候群 HIES

Job症候群

6. 皮膚粘膜カンジダ症
7. 免疫不全を伴う肝静脈閉鎖症
8. Hoyerall-Hreidarsson症候群

免疫調節異常

1. 白子症を伴う免疫不全

Chediak-Higashi症候群 CHS：好中球機能低下、NK細胞機能低下、白子症。常染色体劣性遺伝。細胞内輸送蛋白(CHS1)の調節の異常により巨大顆粒の形成、殺菌性蛋白・溶菌性酵素の食胞内放出が障害される。

貪食細胞の数、機能、もしくは両方の異常

ADA欠損症
RAG-1/2欠損症：TCR,BCRの遺伝子再構成において、RSSの認識と切断に関わるリコンビナーゼを欠損
Artemis欠損症：TCR,BCRの遺伝子再構成において、RAGによる切断末端の修復に関わる酵素Artemisの欠損

LIG IV欠損症
TREC定量
CVID/IgA欠損症

XLP
IPEX
APECED
NEMO欠損症

補体欠損症
若年性サルコイドーシス
CINCA症候群
家族性地中海熱
TNF受容体関連周期熱症候群
HyperIgD症候群

免疫不全症に伴う反復感染の病原体

細菌性　　　　　　　→　抗体、補体、貪食細胞の欠損・障害
真菌性、ウイルス性　→　T細胞の欠損・障害

免疫不全症に伴う感染症

1. 体液性免疫不全：B細胞欠損、Ig欠損・機能不全

重症感染症

侵襲性の強いグラム陽性菌による肺炎、敗血症、髄膜炎、中耳炎

Stapylococcus pneumonia, Stapylococcus pyrogens, Haemophilis influenzae

2. 細胞性免疫不全：T細胞欠損・機能不全

日和見感染を起こす

1) 重症感染症

侵襲性の弱いグラム陰性菌による肺炎、敗血症、皮膚感染症

Psudomonas, Escherichia coli, Seratia

2) ウイルス感染

cytomegalovirus, helpes simplex virus, varicela zoaster virus

3) 真菌感染

Candida albicans, cryptococcus, aspergillus

4) 原虫

3. 複合型免疫不全症(体液性免疫と細胞性免疫の両方の異常)

SCID

①＋②

4. 食細胞機能異常

細菌感染症による肺炎、皮膚炎、化膿性リンパ節炎　→　重症ではない

参考

1. 先天性免疫不全症候群 - MyMed

http://mymed.jp/di/d42.html

「重症複合型免疫不全症」

　　[★]

英: severe combined immunodeficiency SCID severe combined immune deficiency severe combined immunodeficiency disease
同: リンパ球減少性低γグロブリン血症 lymphopenic hypogammaglobulinemia
関: 免疫不全症候群

[show details]

重症複合型免疫不全症 : 約 73,900 件
重症複合免疫不全症 : 約 66,300 件
重症複合型免疫不全症候群 : 34 件
重症複合免疫不全症候群 : 51 件

関

定義

T細胞の発生障害によるT細胞数の減少(CD4, CD8共に)と免疫グロブリン産生不全。
SCID(すきっど)
T細胞・B細胞の欠損・不全による免疫不全症の総称

SCIDに分類される疾患 (出典不明)

SCID (IMM.518)

Disease	Gene defect	Mechanism affected	Phenotype
Disease	Gene defect	Mechanism affected	T cell	B cell	NK cell
XSCID	IL-2 receptor γ chain(common gamma chain,)	Cytokine signaling	-	+	-
	JAK3		-	+	-
	IL-7 receptor		-	+	+
RAG deficiency Omenn syndrome	RAG1	Antigen receptor recombination	-	-	+
	RAG2		-	-	+
	Artemis		-	-	+
ADA deficiency	ADA	Metabolism	-	-	-