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Increased circulating IgD level

MedGen UID:
372146
Concept ID:
C1835869
Finding
Synonym: Elevated IgD
 
HPO: HP:0410246

Definition

An abnormally increased level of immunoglobulin D in blood. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIncreased circulating IgD level

Conditions with this feature

Hyperimmunoglobulin D with periodic fever
MedGen UID:
140768
Concept ID:
C0398691
Disease or Syndrome
Mevalonate kinase deficiency is a condition characterized by recurrent episodes of fever, which typically begin during infancy. Each episode of fever lasts about 3 to 6 days, and the frequency of the episodes varies among affected individuals. In childhood the fevers seem to be more frequent, occurring as often as 25 times a year, but as the individual gets older the episodes occur less often.\n\nMevalonate kinase deficiency has additional signs and symptoms, and the severity depends on the type of the condition. There are two types of mevalonate kinase deficiency: a less severe type called hyperimmunoglobulinemia D syndrome (HIDS) and a more severe type called mevalonic aciduria (MVA).\n\nDuring episodes of fever, people with HIDS typically have enlargement of the lymph nodes (lymphadenopathy), abdominal pain, joint pain, diarrhea, skin rashes, and headache. Occasionally they will have painful sores called aphthous ulcers around their mouth. In females, these may also occur around the vagina. Rarely, people with HIDS develop a buildup of protein deposits (amyloidosis) in the kidneys that can lead to kidney failure. Fever episodes in individuals with HIDS can be triggered by vaccinations, surgery, injury, or stress. Most people with HIDS have abnormally high levels of immune system proteins called immunoglobulin D (IgD) and immunoglobulin A (IgA) in the blood. It is unclear why some people with HIDS have high levels of IgD and IgA and some do not. Elevated levels of these immunoglobulins do not appear to cause any signs or symptoms. Individuals with HIDS do not have any signs and symptoms of the condition between fever episodes and typically have a normal life expectancy.\n\nPeople with MVA have signs and symptoms of the condition at all times, not just during episodes of fever. Affected children have developmental delay, problems with movement and balance (ataxia), recurrent seizures (epilepsy), progressive problems with vision, and failure to gain weight and grow at the expected rate (failure to thrive). Individuals with MVA typically have an unusually small, elongated head. In childhood or adolescence, affected individuals may develop eye problems such as inflammation of the eye (uveitis), a blue tint in the white part of the eye (blue sclera), an eye disorder called retinitis pigmentosa that causes vision loss, or clouding of the lens of the eye (cataracts). Affected adults may have short stature and may develop muscle weakness (myopathy) later in life. During fever episodes, people with MVA may have an enlarged liver and spleen (hepatosplenomegaly), lymphadenopathy, abdominal pain, diarrhea, and skin rashes. Children with MVA who are severely affected with multiple problems may live only into early childhood; mildly affected individuals may have a normal life expectancy.
Mevalonic aciduria
MedGen UID:
368373
Concept ID:
C1959626
Disease or Syndrome
Mevalonic aciduria (MEVA), the first recognized defect in the biosynthesis of cholesterol and isoprenoids, is a consequence of a deficiency of mevalonate kinase (ATP:mevalonate 5-phosphotransferase; EC 2.7.1.36). Mevalonic acid accumulates because of failure of conversion to 5-phosphomevalonic acid, which is catalyzed by mevalonate kinase. Mevalonic acid is synthesized from 3-hydroxy-3-methylglutaryl-CoA, a reaction catalyzed by HMG-CoA reductase (142910). Mevalonic aciduria is characterized by dysmorphology, psychomotor retardation, progressive cerebellar ataxia, and recurrent febrile crises, usually manifesting in early infancy, accompanied by hepatosplenomegaly, lymphadenopathy, arthralgia, and skin rash. The febrile crises are similar to those observed in hyperimmunoglobulinemia D and to periodic fever syndrome (HIDS; 260920), which is also caused by mutation in the MVK gene (summary by Prietsch et al., 2003).

Professional guidelines

PubMed

Aqrawi LA, Ivanchenko M, Björk A, Ramírez Sepúlveda JI, Imgenberg-Kreuz J, Kvarnström M, Haselmayer P, Jensen JL, Nordmark G, Chemin K, Skarstein K, Wahren-Herlenius M
Clin Exp Immunol 2018 Jun;192(3):259-270. Epub 2018 Mar 24 doi: 10.1111/cei.13118. PMID: 29453859Free PMC Article
Moura RA, Quaresma C, Vieira AR, Gonçalves MJ, Polido-Pereira J, Romão VC, Martins N, Canhão H, Fonseca JE
PLoS One 2017;12(9):e0182927. Epub 2017 Sep 8 doi: 10.1371/journal.pone.0182927. PMID: 28886017Free PMC Article
Zarkhin V, Lovelace PA, Li L, Hsieh SC, Sarwal MM
Transplantation 2011 May 15;91(9):1010-8. doi: 10.1097/TP.0b013e318213df29. PMID: 21403590

Recent clinical studies

Etiology

Liang P, Huang Q, Xu Y, Chen L, Li J, Xu A, Yang Q
Clin Rheumatol 2023 Apr;42(4):1069-1076. Epub 2022 Dec 30 doi: 10.1007/s10067-022-06457-9. PMID: 36585530
Liu J, Tang T, Qu Z, Wang L, Si R, Wang H, Jiang Y
Int J Immunopathol Pharmacol 2022 Jan-Dec;36:20587384211048027. doi: 10.1177/20587384211048027. PMID: 35012395Free PMC Article
Golovkin A, Kalinina O, Bezrukikh V, Aquino A, Zaikova E, Karonova T, Melnik O, Vasilieva E, Kudryavtsev I
Viruses 2021 Sep 30;13(10) doi: 10.3390/v13101966. PMID: 34696395Free PMC Article
Kudryavtsev I, Serebriakova M, Starshinova A, Zinchenko Y, Basantsova N, Malkova A, Soprun L, Churilov LP, Toubi E, Yablonskiy P, Shoenfeld Y
Sci Rep 2020 Jan 23;10(1):1059. doi: 10.1038/s41598-020-57741-0. PMID: 31974463Free PMC Article
Moura RA, Quaresma C, Vieira AR, Gonçalves MJ, Polido-Pereira J, Romão VC, Martins N, Canhão H, Fonseca JE
PLoS One 2017;12(9):e0182927. Epub 2017 Sep 8 doi: 10.1371/journal.pone.0182927. PMID: 28886017Free PMC Article

Diagnosis

Liu J, Qu Z, Chen H, Sun W, Jiang Y
Int Immunopharmacol 2021 Sep;98:107839. Epub 2021 Jun 8 doi: 10.1016/j.intimp.2021.107839. PMID: 34111735
Kudryavtsev I, Serebriakova M, Starshinova A, Zinchenko Y, Basantsova N, Malkova A, Soprun L, Churilov LP, Toubi E, Yablonskiy P, Shoenfeld Y
Sci Rep 2020 Jan 23;10(1):1059. doi: 10.1038/s41598-020-57741-0. PMID: 31974463Free PMC Article
Doktor V, Hadi A, Hadi A, Phelps R, Goodheart H
Int J Dermatol 2019 Apr;58(4):408-415. Epub 2018 Aug 3 doi: 10.1111/ijd.14169. PMID: 30074624
El-Chemaly S, Cheung F, Kotliarov Y, O'Brien KJ, Gahl WA, Chen J, Perl SY, Biancotto A, Gochuico BR
Front Immunol 2018;9:76. Epub 2018 Jan 31 doi: 10.3389/fimmu.2018.00076. PMID: 29445374Free PMC Article
Cormane RH, Asghar SS
J Invest Dermatol 1976 Jul;67(1):129-35. doi: 10.1111/1523-1747.ep12512999. PMID: 132505

Therapy

Shin JS, Subhan MO, Cambridge G, Guo Y, de Groot R, Scully M, Thomas M
Blood Adv 2022 Jun 28;6(12):3792-3802. doi: 10.1182/bloodadvances.2022007025. PMID: 35507753Free PMC Article
Liu J, Tang T, Qu Z, Wang L, Si R, Wang H, Jiang Y
Int J Immunopathol Pharmacol 2022 Jan-Dec;36:20587384211048027. doi: 10.1177/20587384211048027. PMID: 35012395Free PMC Article
Doktor V, Hadi A, Hadi A, Phelps R, Goodheart H
Int J Dermatol 2019 Apr;58(4):408-415. Epub 2018 Aug 3 doi: 10.1111/ijd.14169. PMID: 30074624
El-Chemaly S, Cheung F, Kotliarov Y, O'Brien KJ, Gahl WA, Chen J, Perl SY, Biancotto A, Gochuico BR
Front Immunol 2018;9:76. Epub 2018 Jan 31 doi: 10.3389/fimmu.2018.00076. PMID: 29445374Free PMC Article
Moura RA, Quaresma C, Vieira AR, Gonçalves MJ, Polido-Pereira J, Romão VC, Martins N, Canhão H, Fonseca JE
PLoS One 2017;12(9):e0182927. Epub 2017 Sep 8 doi: 10.1371/journal.pone.0182927. PMID: 28886017Free PMC Article

Prognosis

Liang P, Huang Q, Xu Y, Chen L, Li J, Xu A, Yang Q
Clin Rheumatol 2023 Apr;42(4):1069-1076. Epub 2022 Dec 30 doi: 10.1007/s10067-022-06457-9. PMID: 36585530
Schulz E, Hodl I, Forstner P, Hatzl S, Sareban N, Moritz M, Fessler J, Dreo B, Uhl B, Url C, Grisold AJ, Khalil M, Kleinhappl B, Enzinger C, Stradner MH, Greinix HT, Schlenke P, Steinmetz I
Front Immunol 2021;12:803742. Epub 2021 Dec 7 doi: 10.3389/fimmu.2021.803742. PMID: 34950155Free PMC Article
Lucherini OM, Vitale A, Orlando I, Sota J, Fabiani C, Franceschini R, Simpatico A, Frediani B, Galeazzi M, Tosi GM, Cantarini L
Clin Exp Rheumatol 2018 Nov-Dec;36(6 Suppl 115):110-115. Epub 2018 Dec 12 PMID: 30582507
Moura RA, Quaresma C, Vieira AR, Gonçalves MJ, Polido-Pereira J, Romão VC, Martins N, Canhão H, Fonseca JE
PLoS One 2017;12(9):e0182927. Epub 2017 Sep 8 doi: 10.1371/journal.pone.0182927. PMID: 28886017Free PMC Article
Aspord C, Bruder Costa J, Jacob MC, Dufeu-Duchesne T, Bertucci I, Pouget N, Brevot-Lutton O, Zoulim F, Bourliere M, Plumas J, Leroy V; ANRS HB06 PEGAN study group
PLoS One 2016;11(6):e0156200. Epub 2016 Jun 9 doi: 10.1371/journal.pone.0156200. PMID: 27281019Free PMC Article

Clinical prediction guides

Liang P, Huang Q, Xu Y, Chen L, Li J, Xu A, Yang Q
Clin Rheumatol 2023 Apr;42(4):1069-1076. Epub 2022 Dec 30 doi: 10.1007/s10067-022-06457-9. PMID: 36585530
Yao Y, Wang N, Chen CL, Pan L, Wang ZC, Yunis J, Chen ZA, Zhang Y, Hu ST, Xu XY, Zhu RF, Yu D, Liu Z
Allergy 2020 Oct;75(10):2599-2612. Epub 2020 Apr 14 doi: 10.1111/all.14288. PMID: 32198890
Moura RA, Quaresma C, Vieira AR, Gonçalves MJ, Polido-Pereira J, Romão VC, Martins N, Canhão H, Fonseca JE
PLoS One 2017;12(9):e0182927. Epub 2017 Sep 8 doi: 10.1371/journal.pone.0182927. PMID: 28886017Free PMC Article
Beausang JF, Fan HC, Sit R, Hutchins MU, Jirage K, Curtis R, Hutchins E, Quake SR, Yabu JM
J Transl Med 2017 Jan 13;15(1):9. doi: 10.1186/s12967-017-1118-7. PMID: 28086979Free PMC Article
Niu J, Song Z, Yang X, Zhai Z, Zhong H, Hao F
J Eur Acad Dermatol Venereol 2015 Sep;29(9):1791-6. Epub 2015 Feb 24 doi: 10.1111/jdv.13027. PMID: 25712241

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