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MHC class II deficiency 3

MedGen UID:
347175
Concept ID:
C1859536
Disease or Syndrome
Synonym: Bare lymphocyte syndrome, type II, complementation group c
 
Monarch Initiative: MONDO:0971014
OMIM®: 620816

Definition

BLS II is typically diagnosed in the first year of life. Most affected infants have persistent infections in the respiratory, gastrointestinal, and urinary tracts. Because of the infections, affected infants have difficulty absorbing nutrients (malabsorption), and they grow more slowly than their peers. Eventually, the persistent infections lead to organ failure. Without treatment, individuals with BLS II usually do not survive past early childhood.

In people with BLS II, infection-fighting white blood cells (lymphocytes) are missing specialized proteins on their surface called major histocompatibility complex (MHC) class II proteins, which is where the condition got its name. Because BLS II is the most common and best studied form of a group of related conditions, it is often referred to as simply bare lymphocyte syndrome (BLS).

Bare lymphocyte syndrome type II (BLS II) is an inherited disorder of the immune system categorized as a form of combined immunodeficiency (CID). People with BLS II lack virtually all immune protection from bacteria, viruses, and fungi. They are prone to repeated and persistent infections that can be very serious or life-threatening. These infections are often caused by "opportunistic" organisms that ordinarily do not cause illness in people with a normal immune system. [from MedlinePlus Genetics]

Professional guidelines

PubMed

Korkmaz SB, Karaselek MA, Aytekin SE, Tokgoz H, Reisli I, Guner S, Keles S
Int J Immunogenet 2023 Aug;50(4):177-184. Epub 2023 Jun 12 doi: 10.1111/iji.12624. PMID: 37308802
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Recent clinical studies

Etiology

Kopp MA, Meisel C, Liebscher T, Watzlawick R, Cinelli P, Schweizerhof O, Blex C, Lübstorf T, Prilipp E, Niedeggen A, Druschel C, Schaser KD, Wanner GA, Curt A, Lindemann G, Nugeva N, Fehlings MG, Vajkoczy P, Cabraja M, Dengler J, Ertel W, Ekkernkamp A, Rehahn K, Martus P, Volk HD, Unterwalder N, Kölsch U, Brommer B, Hellmann RC, Baumgartner E, Hirt J, Geurtz LC, Saidy RRO, Prüss H, Laginha I, Failli V, Grittner U, Dirnagl U, Schwab JM
Brain 2023 Aug 1;146(8):3500-3512. doi: 10.1093/brain/awad092. PMID: 37370200Free PMC Article
Bhakat B, Pal J, Das S, Charaborty SK, SircarMedical NR, Kolkata, RGKar, NorthBengal, Siliguri
J Assoc Physicians India 2023 Jan;71(1):1. PMID: 37116030
Hanna S, Etzioni A
J Allergy Clin Immunol 2014 Aug;134(2):269-75. Epub 2014 Jul 4 doi: 10.1016/j.jaci.2014.06.001. PMID: 25001848
Fischer A
Immunodefic Rev 1992;3(2):83-100. PMID: 1554500
Yong K, Khwaja A
Blood Rev 1990 Dec;4(4):211-25. doi: 10.1016/0268-960x(90)90001-9. PMID: 1706206

Diagnosis

Bhakat B, Pal J, Das S, Charaborty SK, SircarMedical NR, Kolkata, RGKar, NorthBengal, Siliguri
J Assoc Physicians India 2023 Jan;71(1):1. PMID: 37116030
Brogan P, Eleftheriou D
Pediatr Nephrol 2018 Feb;33(2):187-198. Epub 2017 Aug 7 doi: 10.1007/s00467-017-3597-4. PMID: 28785984Free PMC Article
Hanna S, Etzioni A
J Allergy Clin Immunol 2014 Aug;134(2):269-75. Epub 2014 Jul 4 doi: 10.1016/j.jaci.2014.06.001. PMID: 25001848
Fischer A
Immunodefic Rev 1992;3(2):83-100. PMID: 1554500
Ruiz-Cabello F, Klein E, Garrido F
Immunol Lett 1991 Aug;29(3):181-9. doi: 10.1016/0165-2478(91)90168-a. PMID: 1769705

Therapy

Bhakat B, Pal J, Das S, Charaborty SK, SircarMedical NR, Kolkata, RGKar, NorthBengal, Siliguri
J Assoc Physicians India 2023 Jan;71(1):1. PMID: 37116030
vinh quốc Luong K, Nguyễn LT
Clin Rheumatol 2012 Oct;31(10):1423-35. Epub 2012 Jul 17 doi: 10.1007/s10067-012-2033-1. PMID: 22801788
Rothman PB
Trans Am Clin Climatol Assoc 2010;121:156-71; discussion 171. PMID: 20697558Free PMC Article
Fischer A
Immunodefic Rev 1992;3(2):83-100. PMID: 1554500
Rynes RI
Clin Rheum Dis 1982 Apr;8(1):29-47. PMID: 6288318

Prognosis

Brogan P, Eleftheriou D
Pediatr Nephrol 2018 Feb;33(2):187-198. Epub 2017 Aug 7 doi: 10.1007/s00467-017-3597-4. PMID: 28785984Free PMC Article
Farrokhi S, Shabani M, Aryan Z, Zoghi S, Krolo A, Boztug K, Rezaei N
Allergol Immunopathol (Madr) 2018 May-Jun;46(3):263-275. Epub 2017 Jul 1 doi: 10.1016/j.aller.2017.04.006. PMID: 28676232
Siepermann M, Gudowius S, Beltz K, Strier U, Feyen O, Troeger A, Göbel U, Laws HJ, Kögler G, Meisel R, Dilloo D, Niehues T
Pediatr Transplant 2011 Jun;15(4):E80-6. Epub 2010 Mar 4 doi: 10.1111/j.1399-3046.2010.01292.x. PMID: 20214747
Dörries R
Curr Top Microbiol Immunol 2001;253:219-45. doi: 10.1007/978-3-662-10356-2_11. PMID: 11417137
Ruiz-Cabello F, Klein E, Garrido F
Immunol Lett 1991 Aug;29(3):181-9. doi: 10.1016/0165-2478(91)90168-a. PMID: 1769705

Clinical prediction guides

Brehm MA, Kenney LL, Wiles MV, Low BE, Tisch RM, Burzenski L, Mueller C, Greiner DL, Shultz LD
FASEB J 2019 Mar;33(3):3137-3151. Epub 2018 Nov 1 doi: 10.1096/fj.201800636R. PMID: 30383447Free PMC Article
Brogan P, Eleftheriou D
Pediatr Nephrol 2018 Feb;33(2):187-198. Epub 2017 Aug 7 doi: 10.1007/s00467-017-3597-4. PMID: 28785984Free PMC Article
Radosevich M, Ono SJ
Immunol Res 2004;30(2):125-38. doi: 10.1385/IR:30:2:125. PMID: 15477655
Ruiz-Cabello F, Klein E, Garrido F
Immunol Lett 1991 Aug;29(3):181-9. doi: 10.1016/0165-2478(91)90168-a. PMID: 1769705
Colten HR
Philos Trans R Soc Lond B Biol Sci 1984 Sep 6;306(1129):355-66. doi: 10.1098/rstb.1984.0096. PMID: 6149578

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