HLA-B58

Last updated
HLA-B.png
HLA-B (alpha)-β2MG with bound peptide
major histocompatibility complex (human), class I, B58
Alleles*5801, *5802
Structure (See HLA-B)
Shared data
Locus chr.6 6p21.31

HLA-B58 (B58) is an HLA-B serotype. B58 is a split antigen from the B17 broad antigen, the sister serotype B57. [1] The serotype identifies the more common HLA-B*58 gene products. [2] (For terminology help see: HLA-serotype tutorial) B*5801 is associated with allopurinol induced inflammatory necrotic skin disease.

Contents

Serotype

B58 and B17 serotype recognition of some more common HLA B*58 alleles [3]
B*58B58B17Sample
allele % %size (N)
*58017942096
*5802723837

Allele distribution

HLA B*5801 frequencies
freq
ref.Population(%)
[4] Cameroon Pygmy Baka15.0
[4] India Khandesh Pawra15.0
[4] Cameroon Sawa11.5
[4] Taiwan Hakka10.9
[4] Kenya Nandi10.0
[4] India West Bhils9.0
[4] China South Han8.9
[4] China Inner Mongolia8.8
[4] India North Delhi8.8
[4] Thailand Northeast8.4
[4] Guinea Bissau7.8
[4] Thailand7.7
[4] India Mumbai Marathas7.4
[4] India Andhra Pradesh Golla7.2
[4] Kenya Luo7.0
[4] Senegal Niokholo Mandenka6.9
[4] India New Delhi6.8
[4] Oman6.8
[4] Russia Tuva (2)6.7
[4] South Korea (3)6.5
[4] Italy Sardinia (3)6.4
[4] Burkina Faso Fulani6.1
[4] Taiwan Siraya5.9
[4] India North Hindus5.8
[4] Burkina Faso Mossi5.7
[4] Cameroon Yaounde5.4
[4] Cameroon Bamileke5.2
[4] Singapore Riau Malay5.0
[4] Saudi Arabia Guraiat and Hail4.6
[4] France Corsica4.5
[4] Sudanese4.5
[4] Zimbabwe Harare Shona4.4
[4] Burkina Faso Rimaibe4.3
[4] Iran Baloch4.0
[4] South African Natal Zulu4.0
[4] Tunisia4.0
[4] Uganda Kampala4.0
[4] Cameroon Beti3.7
[4] Tunisia Ghannouch3.7
[4] Taiwan Pazeh3.6
[4] Tunisia Tunis3.4
[4] Italy North (1)3.3
[4] Israel Ashkenazi and Non Ashkenazi Jews3.2
[4] India West Coast Parsis3.0
[4] China North Han2.9
[4] Ivory Coast Akan Adiopodoume2.3
[4] Mali Bandiagara2.2
[4] Mexico Zaptotec Oaxaca2.2
[4] South Africa Natal Tamil2.0
[4] China Yunnan Nu1.9
[4] Bulgaria1.8
[4] China Tibet Autonomous Region Tibetans1.6
[4] France South East1.6
[4] Israel Arab Druse1.5
[4] Czech Republic1.4
[4] Georgia Tbilisi Georgians1.4
[4] Jordan Amman1.4
[4] Morocco Nador Metalsa (berber)1.4
[4] Croatia1.3
[4] Romanian1.3
[4] Spain Eastern Andalusia1.2
[4] Australian Aborigine Cape York Peninsula1.0
B*5802
[4] Cameroon Bamileke14.3
[4] Kenya Luo12.5
[4] Cameroon Yaounde10.9
[4] Cameroon Pygmy Baka10.0
[4] Cameroon Beti9.8
[4] Kenya Nandi8.5
[4] South African Natal Zulu8.5
[4] Cameroon Sawa7.7
[4] Zimbabwe Harare Shona6.4
[4] Cape Verde Northwestern Islands5.6
[4] Uganda Kampala4.4
[4] Central Africa Republic Mbenzele Pygmy4.0
[4] Zambia Lusaka2.3
[4] Iran Baloch1.0
[4] Tunisia1.0

Disease

HLA-B*5801 is involved in allopurinol sensitive drug induced Stevens–Johnson syndrome. [5] [6] Allopurinol is a frequent cause of severe cutaneous adverse reactions, including drug-hypersensitivity syndrome, Stevens–Johnson syndrome, and toxic epidermal necrolysis (SJS/TEN). [7] The association with allopurinol sensitivity in SJS/TEN was extremely strong in Asia, and somewhat less associated in Europeans. [8]

Related Research Articles

<span class="mw-page-title-main">Carbamazepine</span> Anticonvulsant medication

Carbamazepine, sold under the brand name Tegretol among others, is an anticonvulsant medication used in the treatment of epilepsy and neuropathic pain. It is used as an adjunctive treatment in schizophrenia along with other medications and as a second-line agent in bipolar disorder. Carbamazepine appears to work as well as phenytoin and valproate for focal and generalized seizures. It is not effective for absence or myoclonic seizures.

Stevens–Johnson syndrome (SJS) is a type of severe skin reaction. Together with toxic epidermal necrolysis (TEN) and Stevens–Johnson/toxic epidermal necrolysis (SJS/TEN) overlap, they are considered febrile mucocutaneous drug reactions and probably part of the same spectrum of disease, with SJS being less severe. Erythema multiforme (EM) is generally considered a separate condition. Early symptoms of SJS include fever and flu-like symptoms. A few days later, the skin begins to blister and peel, forming painful raw areas. Mucous membranes, such as the mouth, are also typically involved. Complications include dehydration, sepsis, pneumonia and multiple organ failure.

<span class="mw-page-title-main">Allopurinol</span> Medication

Allopurinol is a medication used to decrease high blood uric acid levels. It is specifically used to prevent gout, prevent specific types of kidney stones and for the high uric acid levels that can occur with chemotherapy. It is taken orally or intravenously.

<span class="mw-page-title-main">Toxic epidermal necrolysis</span> Severe skin reaction

Toxic epidermal necrolysis (TEN) is a type of severe skin reaction. Together with Stevens–Johnson syndrome (SJS) it forms a spectrum of disease, with TEN being more severe. Early symptoms include fever and flu-like symptoms. A few days later the skin begins to blister and peel forming painful raw areas. Mucous membranes, such as the mouth, are also typically involved. Complications include dehydration, sepsis, pneumonia, and multiple organ failure.

<span class="mw-page-title-main">HLA-B</span> Protein-coding gene in the species Homo sapiens

HLA-B is a human gene that provides instructions for making a protein that plays a critical role in the immune system. HLA-B is part of a family of genes called the human leukocyte antigen (HLA) complex. The HLA complex helps the immune system distinguish the body's own proteins from proteins made by foreign invaders such as viruses and bacteria.

<span class="mw-page-title-main">HLA-A33</span> Human leukocyte antigen serotype

HLA-A33 (A33) is a human leukocyte antigen serotype within HLA-A serotype group. The serotype is determined by the antibody recognition of α33 subset of HLA-A α-chains. For A33, the alpha "A" chain are encoded by the HLA-A*33 allele group and the β-chain are encoded by B2M locus. A33 and A*33 are almost synonymous in meaning. A33 is a split antigen of the broad antigen serotype A19. A33 is a sister serotype of A29, A30, A31, A32, and A74.

Drug rash with eosinophilia and systemic symptoms or drug reaction with eosinophilia and systemic symptoms (DRESS), also termed drug-induced hypersensitivity syndrome (DIHS), is a rare reaction to certain medications. It involves primarily a widespread skin rash, fever, swollen lymph nodes, and characteristic blood abnormalities such as an abnormally high level of eosinophils, low number of platelets, and increased number of atypical white blood cells (lymphocytes). However, DRESS is often complicated by potentially life-threatening inflammation of internal organs and the syndrome has about a 10% mortality rate. Treatment consists of stopping the offending medication and providing supportive care. Systemic corticosteroids are commonly used as well but no controlled clinical trials have assessed the efficacy of this treatment.

HLA-B17 (B17) is an HLA - B serotype. B17 is a broad antigen serotype that recognizes the B57 and B58 split antigen serotypes. B17 is still encountered in the current literature, although most studies now use B57/B58 or gene typing designators. Both serotypes are involved in slightly different drug-sensitive diseases.

<span class="mw-page-title-main">HLA-B57</span> Human leukocyte antigen serotype

HLA-B57 (B57) is an HLA-B serotype. B57 is a split antigen from the B17 broad antigen, the sister serotype being B58. The serotype identifies the more common HLA-B*57 gene products. Like B58, B57 is involved in drug-induced inflammatory skin disorders.

<span class="mw-page-title-main">HLA-B15</span> HLA-B serotype

HLA-B15 (B15) is an HLA-B serotype. The serotype identifies the B*15 gene-allele protein products of HLA-B.

<span class="mw-page-title-main">HLA-B75</span> Human leukocyte antigen serotype

HLA-B75 (B75) is an HLA-B serotype. The serotype identifies certain B*15 gene-allele protein products of HLA-B.

<span class="mw-page-title-main">Drug eruption</span> Medical condition

In medicine, a drug eruption is an adverse drug reaction of the skin. Most drug-induced cutaneous reactions are mild and disappear when the offending drug is withdrawn. These are called "simple" drug eruptions. However, more serious drug eruptions may be associated with organ injury such as liver or kidney damage and are categorized as "complex". Drugs can also cause hair and nail changes, affect the mucous membranes, or cause itching without outward skin changes.

<span class="mw-page-title-main">Allopurinol hypersensitivity syndrome</span> Medical condition

Allopurinol hypersensitivity syndrome(AHS) typically occurs in persons with preexisting kidney failure. Weeks to months after allopurinol is begun, the patient develops a morbilliform eruption or, less commonly, develops one of the far more serious and potentially lethal severe cutaneous adverse reactions viz., the DRESS syndrome, Stevens Johnson syndrome, or toxic epidermal necrolysis. About 1 in 1000 patients receiving allopurinol are affected, and mortality rates have been reported to be between 20% and 25%.

<span class="mw-page-title-main">Acute generalized exanthematous pustulosis</span> Medical condition

Acute generalized exanthematous pustulosis (AGEP) is a rare skin reaction that in 90% of cases is related to medication.

<span class="mw-page-title-main">Generalized bullous fixed drug eruption</span> Medical condition

Generalized bullous fixed drug eruption (GBFDE) most commonly refers to a drug reaction in the erythema multiforme group. These are uncommon reactions to medications, with an incidence of 0.4 to 1.2 per million person-years for toxic epidermal necrolysis and 1.2 to 6.0 per million person-years for Stevens–Johnson syndrome. The primary skin lesions are large erythemas, most often irregularly distributed and of a characteristic purplish-livid color, at times with flaccid blisters.

<span class="mw-page-title-main">Erythema multiforme major</span> Skin condition

In dermatology, erythema multiforme major is a form of rash with skin loss or epidermal detachment.

Yuan-Tsong Chen is a Taiwanese geneticist and physician, notable for his work on human genetic disorders. He is the director emeritus (2001–2010) and distinguished research fellow (2001–present) of the Institute of Biomedical Sciences, Academia Sinica, Taiwan, and also tenured professor of pediatrics of Duke University (1993–present) Chen was a 2019 awardee of Taiwan's Presidential Science Award, as were Yuan-Pern Lee and Wei Fu-chan.

Severe cutaneous adverse reactions are a group of potentially lethal adverse drug reactions that involve the skin and mucous membranes of various body openings such as the eyes, ears, and inside the nose, mouth, and lips. In more severe cases, SCARs also involves serious damage to internal organs. SCARs includes five syndromes: Drug reaction with eosinophilia and systemic symptoms ; Stevens–Johnson syndrome (SJS); Toxic epidermal necrolysis (TEN), Stevens-Johnson/toxic epidermal necrolysis overlap syndrome (SJS/TEN); and Acute generalized exanthematous pustulosis (AGEP). The five disorders have similar pathophysiologies, i.e. disease-causing mechanisms, for which new strategies are in use or development to identify individuals predisposed to develop the SCARs-inducing effects of specific drugs and thereby avoid treatment with them. Maculopapular rash (MPR) is a less-well defined and benign form of drug-induced adverse skin reactions; while not classified in the SCARs group, it shares a similar pathophysiology with SCARs and is caused by some of the same drugs which cause SCARs.

The p-i concept refers to the pharmacological interaction of drugs with immune receptors. It explains a form of drug hypersensitivity, namely T cell stimulation, which can lead to various acute inflammatory manifestations such as exanthems, eosinophilia and systemic symptoms, Stevens–Johnson syndrome, toxic epidermal nercrolysis, and complications upon withdrawing the drug.

References

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  3. derived from IMGT/HLA
  4. 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 66 67 68 69 70 71 72 73 74 75 76 77 Middleton D, Menchaca L, Rood H, Komerofsky R (2003). "New allele frequency database". Tissue Antigens. 61 (5): 403–7. doi: 10.1034/j.1399-0039.2003.00062.x . PMID   12753660.
  5. Chung WH, Hung SI, Chen YT (August 2007). "Human leukocyte antigens and drug hypersensitivity". Curr Opin Allergy Clin Immunol. 7 (4): 317–23. doi:10.1097/ACI.0b013e3282370c5f. PMID   17620823. S2CID   31415054.
  6. Tassaneeyakul W, Jantararoungtong T, Chen P, Lin PY, Tiamkao S, Khunarkornsiri U, Chucherd P, Konyoung P, Vannaprasaht S, Choonhakarn C, Pisuttimarn P, Sangviroon A, Tassaneeyakul W (2009). "Strong association between HLA-B*5801 and allopurinol-induced Stevens–Johnson syndrome and toxic epidermal necrolysis in a Thai population". Pharmacogenet Genomics. 19 (9): 704–9. doi:10.1097/FPC.0b013e328330a3b8. PMID   19696695. S2CID   24941838.
  7. Hung SI, Chung WH, Liou LB, et al. (March 2005). "HLA-B*5801 allele as a genetic marker for severe cutaneous adverse reactions caused by allopurinol". Proc. Natl. Acad. Sci. U.S.A. 102 (11): 4134–9. Bibcode:2005PNAS..102.4134H. doi: 10.1073/pnas.0409500102 . PMC   554812 . PMID   15743917.
  8. Lonjou C, Borot N, Sekula P, et al. (February 2008). "A European study of HLA-B in Stevens–Johnson syndrome and toxic epidermal necrolysis related to five high-risk drugs". Pharmacogenet. Genomics. 18 (2): 99–107. doi:10.1097/FPC.0b013e3282f3ef9c. PMID   18192896. S2CID   35512622.