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Review the information below for assistance if you do not believe that you have done anything wrong.<div class="paragraphbreak" style="margin-top:0.5em"></div><div class="paragraphbreak" style="margin-top:0.5em"></div> <p>This block affects editing on all Wikimedia wikis. </p><p>The IP address or range 8.222.128.0/17 has been globally <a href="/wiki/Wikipedia:Blocking_policy" title="Wikipedia:Blocking policy">blocked</a> by <a href="/wiki/User:Jon_Kolbert" title="User:Jon Kolbert">‪Jon Kolbert‬</a> for the following reason(s): </p> <div style="padding:10px; background:var(--background-color-base, white); color:inherit; border:1px #666 solid;"> <p><a href="https://meta.wikimedia.org/wiki/Special:MyLanguage/NOP" class="extiw" title="m:Special:MyLanguage/NOP">Open proxy/Webhost</a>: See the <a href="https://meta.wikimedia.org/wiki/WM:OP/H" class="extiw" title="m:WM:OP/H">help page</a> if you are affected </p> </div> <p>This block will expire on 15:12, 27 August 2028. Your current IP address is 8.222.208.146. </p> <div class="paragraphbreak" style="margin-top:0.5em"></div><div style="font-size: 16px;"> <p>Even while globally blocked, you will <i>usually</i> still be able to edit pages on <a href="https://meta.wikimedia.org/wiki/" class="extiw" title="m:">Meta-Wiki</a>. </p> </div> <div class="paragraphbreak" style="margin-top:0.5em"></div><div style="font-size: 16px;"> <p>If you believe you were blocked by mistake, you can find additional information and instructions in the <a href="https://meta.wikimedia.org/wiki/Special:MyLanguage/No_open_proxies" class="extiw" title="m:Special:MyLanguage/No open proxies">No open proxies</a> global policy. Otherwise, to discuss the block please <a href="https://meta.wikimedia.org/wiki/Steward_requests/Global" class="extiw" title="m:Steward requests/Global">post a request for review on Meta-Wiki</a>. 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[[Immunoglobulin]] (Ig) class switch recombination deficiencies are characterized by elevated serum IgM levels and a considerable deficiency in [[Immunoglobulin G|Immunoglobulins G]] (IgG), [[Immunoglobulin A|A]] (IgA) and [[Immunoglobulin E|E]] (IgE). As a consequence, people with HIGM have an increased susceptibility to infections.<ref name="nat" /><ref name="gen">{{cite journal|last1=Johnson|first1=Judith|last2=Filipovich|first2=Alexandra H.|last3=Zhang|first3=Kejian|title=X-Linked Hyper IgM Syndrome|journal=GeneReviews|date=1 January 1993|pmid=20301576 |url=https://www.ncbi.nlm.nih.gov/books/NBK1402/|access-date=12 November 2016}}update 2013</ref><ref>{{cite web|title=Hyper-Immunoglobulin M (Hyper-IgM) Syndromes {{!}} NIH: National Institute of Allergy and Infectious Diseases|url=https://www.niaid.nih.gov/diseases-conditions/hyper-immunoglobulin-m-hyper-igm-syndromes|website=niaid.nih.gov|access-date=27 November 2016}}</ref> ==Signs and symptoms== Hyper IgM syndrome can have the following syndromes:<ref name="emed">{{cite web|title=X-linked Immunodeficiency With Hyper IgM Clinical Presentation: History, Physical, Causes|url=http://emedicine.medscape.com/article/889104-clinical|website=emedicine.medscape.com|access-date=27 November 2016}}</ref><ref>{{cite journal|last1=Davies|first1=E Graham|last2=Thrasher|first2=Adrian J|title=Update on the hyper immunoglobulin M syndromes|journal=British Journal of Haematology|date=27 November 2016|volume=149|issue=2|pages=167–180|doi=10.1111/j.1365-2141.2010.08077.x|pmc=2855828|issn=0007-1048|pmid=20180797}}</ref> * [[Infection]]/[[Pneumocystis pneumonia|''Pneumocystis'' pneumonia]] (PCP), which is common in infants with hyper IgM syndrome, is a serious illness.<ref name="nat">{{cite journal|last1=Etzioni|first1=Amos|last2=Ochs|first2=Hans D.|title=The Hyper IgM Syndrome—An Evolving Story|journal=Pediatric Research|date=1 October 2004|volume=56|issue=4|pages=519–525|doi=10.1203/01.PDR.0000139318.65842.4A|pmid=15319456|language=en|issn=0031-3998|doi-access=free}}</ref> PCP is one of the most frequent and severe opportunistic infections in people with weakened immune systems. * [[Hepatitis]] (Hepatitis C) * Chronic [[diarrhea]] * [[Hypothyroidism]] * [[Neutropenia]] * [[Arthritis]] * [[Encephalopathy]] (degenerative) ==Cause== [[File:Class switch recombination.png|thumb|150 px|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.<ref name=gen/><ref name="om1">{{cite web|title=OMIM Entry – # 308230 – IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1; HIGM1|url=http://www.omim.org/entry/308230|website=omim.org|access-date=16 November 2016}}</ref><ref name="om2">{{cite web|title=OMIM Entry – # 605258 – IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2; HIGM2|url=http://omim.org/entry/605258|website=omim.org|access-date=16 November 2016}}</ref><ref name="om3">{{cite web|title=OMIM Entry – # 606843 – IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3; HIGM3|url=http://www.omim.org/entry/606843|website=omim.org|access-date=16 November 2016}}</ref><ref>{{cite journal |vauthors=Lougaris V, Badolato R, Ferrari S, Plebani A |title=Hyper immunoglobulin M syndrome due to CD40 deficiency: clinical, molecular, and immunological features |journal=Immunol. Rev. |volume=203 |pages=48–66 |year=2005 |pmid=15661021 |doi=10.1111/j.0105-2896.2005.00229.x |s2cid=6678540 |doi-access=free }}subscription needed</ref><ref name="om5">{{cite web|title=OMIM Entry – # 608106 – IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5; HIGM5|url=http://omim.org/entry/608106|website=omim.org|access-date=16 November 2016}}</ref> IgM is the form of [[antibody]] that all B cells produce initially before they undergo [[Antibody#Class switching|class switching]]. 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 can not switch to a different antibody. This results in an overproduction of IgM antibodies and an underproduction of [[IgA]], [[Immunoglobulin G|IgG]], and [[IgE]].<ref>{{cite web|last1=Reference|first1=Genetics Home|title=X-linked hyper IgM syndrome|url=https://ghr.nlm.nih.gov/condition/x-linked-hyper-igm-syndrome#|website=Genetics Home Reference|access-date=27 November 2016}}</ref><ref name=gen/> ==Pathophysiology== CD40 is a [[Co-stimulation|costimulatory]] receptor on B cells that, when bound to CD40 ligand ([[CD40L]]), sends a signal to the [[B-cell receptor]].<ref>{{cite web|last1=Reference|first1=Genetics Home|title=CD40 gene|url=https://ghr.nlm.nih.gov/gene/CD40|website=Genetics Home Reference|access-date=27 November 2016}}</ref> When there is a defect in CD40, this leads to defective T-cell interaction with B cells. Consequently, [[humoral immune response]] is affected. Patients are more susceptible to infection.<ref name=emed/> ==Diagnosis== The diagnosis of hyper IgM syndrome can be done via the following methods and tests:<ref name=emed/> * [[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.<ref name=gen/> ==References== {{Reflist }} {{Medical resources | ICD10 = D80.5 | ICD9 =  | ICDO = | OMIM = 608106 | DiseasesDB = | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeSH = | GeneReviewsNBK = | GeneReviewsName = | Orphanet = 101092 }} {{Immune disorders}} {{DEFAULTSORT:Hyper Igm Syndrome}} [[Category:Immune system disorders]] [[Category:Rare syndromes]] </textarea><div class="templatesUsed"><div class="mw-templatesUsedExplanation"><p><span id="templatesused">Pages transcluded onto the current version of this page<span class="posteditwindowhelplinks"> (<a href="/wiki/Help:Transclusion" title="Help:Transclusion">help</a>)</span>:</span> </p></div><ul> <li><a href="/wiki/Template:Cite_journal" title="Template:Cite journal">Template:Cite journal</a> (<a href="/w/index.php?title=Template:Cite_journal&action=edit" 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