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Bare lymphocyte syndrome type 1

MedGen UID:
346868
Concept ID:
C1858266
Disease or Syndrome
Synonyms: BARE LYMPHOCYTE SYNDROME, TYPE I; BLS, TYPE I; HLA CLASS I DEFICIENCY
SNOMED CT: Immunodeficiency by defective expression of human leukocyte antigen class 1 (725136003); Bare lymphocyte syndrome type 1 (725136003); Bare lymphocyte syndrome type I (725136003); Immunodeficiency by defective expression of HLA (human leukocyte antigen) class 1 (725136003); Immunodeficiency by defective expression of human leukocyte antigen class I (725136003)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Genes (locations): TAP1 (6p21.32); TAP2 (6p21.32); TAPBP (6p21.32)
 
Monarch Initiative: MONDO:0011476
OMIM®: 604571
Orphanet: ORPHA34592

Definition

Bare lymphocyte syndrome type I (BLS I) is an inherited disorder of the immune system (primary immunodeficiency). Immunodeficiencies are conditions in which the immune system is not able to protect the body effectively from foreign invaders such as bacteria or viruses. Starting in childhood, most people with BLS I develop recurrent bacterial infections in the lungs and airways (respiratory tract). These recurrent infections can lead to a condition called bronchiectasis, which damages the passages leading from the windpipe to the lungs (bronchi) and can cause breathing problems.\n\nMany people with BLS I also have open sores (ulcers) on their skin, usually on the face, arms, and legs. These ulcers typically develop in adolescence or young adulthood. Some people with BLS I have no symptoms of the condition.\n\nPeople with BLS I have a shortage of specialized immune proteins called major histocompatibility complex (MHC) class I proteins on cells, including infection-fighting white blood cells (lymphocytes), which is where the condition got its name. [from MedlinePlus Genetics]

Clinical features

From HPO
Chronic otitis media
MedGen UID:
75751
Concept ID:
C0271441
Disease or Syndrome
Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear.
Chronic sinusitis
MedGen UID:
101751
Concept ID:
C0149516
Disease or Syndrome
A chronic form of sinusitis.
Bronchiectasis
MedGen UID:
14234
Concept ID:
C0006267
Disease or Syndrome
Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.
Bronchiolitis
MedGen UID:
14235
Concept ID:
C0006271
Disease or Syndrome
Inflammation of the bronchioles.
Pulmonary emphysema
MedGen UID:
18764
Concept ID:
C0034067
Disease or Syndrome
A subcategory of chronic obstructive pulmonary disease (COPD). It occurs in people who smoke and suffer from chronic bronchitis. It is characterized by inflation of the alveoli, alveolar wall damage, and reduction in the number of alveoli, resulting in difficulty breathing.
Chronic sinusitis
MedGen UID:
101751
Concept ID:
C0149516
Disease or Syndrome
A chronic form of sinusitis.
Recurrent bronchitis
MedGen UID:
148159
Concept ID:
C0741796
Disease or Syndrome
An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis.
Bronchiolitis
MedGen UID:
14235
Concept ID:
C0006271
Disease or Syndrome
Inflammation of the bronchioles.
Chronic sinusitis
MedGen UID:
101751
Concept ID:
C0149516
Disease or Syndrome
A chronic form of sinusitis.
Chronic otitis media
MedGen UID:
75751
Concept ID:
C0271441
Disease or Syndrome
Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear.
Recurrent bronchitis
MedGen UID:
148159
Concept ID:
C0741796
Disease or Syndrome
An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis.
Nasal polyposis
MedGen UID:
6524
Concept ID:
C0027430
Finding
Polypoidal masses arising mainly from the mucous membranes of the nose and paranasal sinuses. They are freely movable and nontender overgrowths of the mucosa that frequently accompany allergic rhinitis.
Chronic sinusitis
MedGen UID:
101751
Concept ID:
C0149516
Disease or Syndrome
A chronic form of sinusitis.
Recurrent bronchitis
MedGen UID:
148159
Concept ID:
C0741796
Disease or Syndrome
An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis.
Skin ulcer
MedGen UID:
52369
Concept ID:
C0037299
Disease or Syndrome
A circumscribed and often suppurating skin crater which usually includes loss of skin integrity of the superficial skin or the mucous membranes.
Ectopia lentis
MedGen UID:
41704
Concept ID:
C0013581
Congenital Abnormality
Displacement of the lens of the eye secondary to defective zonule formation that is present at the time of birth.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBare lymphocyte syndrome type 1
Follow this link to review classifications for Bare lymphocyte syndrome type 1 in Orphanet.

Recent clinical studies

Etiology

Al Sukaiti N, Ahmed K, Alshekaili J, Al Kindi M, Cook MC, Farsi TA
Front Immunol 2020;11:623199. Epub 2021 Jan 15 doi: 10.3389/fimmu.2020.623199. PMID: 33519828Free PMC Article
Heimall J, Puck J, Buckley R, Fleisher TA, Gennery AR, Neven B, Slatter M, Haddad E, Notarangelo LD, Baker KS, Dietz AC, Duncan C, Pulsipher MA, Cowan MJ
Biol Blood Marrow Transplant 2017 Mar;23(3):379-387. Epub 2017 Jan 6 doi: 10.1016/j.bbmt.2016.12.619. PMID: 28068510Free PMC Article
Wahlstrom J, Patel K, Eckhert E, Kong D, Horn B, Cowan MJ, Dvorak CC
J Allergy Clin Immunol 2017 Feb;139(2):628-633.e10. Epub 2016 Jun 16 doi: 10.1016/j.jaci.2016.04.049. PMID: 27444177Free PMC Article
van Til NP, Sarwari R, Visser TP, Hauer J, Lagresle-Peyrou C, van der Velden G, Malshetty V, Cortes P, Jollet A, Danos O, Cassani B, Zhang F, Thrasher AJ, Fontana E, Poliani PL, Cavazzana M, Verstegen MM, Villa A, Wagemaker G
J Allergy Clin Immunol 2014 Apr;133(4):1116-23. Epub 2013 Dec 9 doi: 10.1016/j.jaci.2013.10.009. PMID: 24332219
Yao CM, Han XH, Zhang YD, Zhang H, Jin YY, Cao RM, Wang X, Liu QH, Zhao W, Chen TX
J Clin Immunol 2013 Apr;33(3):526-39. Epub 2012 Dec 19 doi: 10.1007/s10875-012-9854-1. PMID: 23250629

Diagnosis

Al Sukaiti N, Ahmed K, Alshekaili J, Al Kindi M, Cook MC, Farsi TA
Front Immunol 2020;11:623199. Epub 2021 Jan 15 doi: 10.3389/fimmu.2020.623199. PMID: 33519828Free PMC Article
Heimall J, Puck J, Buckley R, Fleisher TA, Gennery AR, Neven B, Slatter M, Haddad E, Notarangelo LD, Baker KS, Dietz AC, Duncan C, Pulsipher MA, Cowan MJ
Biol Blood Marrow Transplant 2017 Mar;23(3):379-387. Epub 2017 Jan 6 doi: 10.1016/j.bbmt.2016.12.619. PMID: 28068510Free PMC Article
van der Spek J, Groenwold RH, van der Burg M, van Montfrans JM
J Clin Immunol 2015 May;35(4):416-30. Epub 2015 Apr 17 doi: 10.1007/s10875-015-0152-6. PMID: 25893636Free PMC Article
Taylor JL, Lee FK, Yazdanpanah GK, Staropoli JF, Liu M, Carulli JP, Sun C, Dobrowolski SF, Hannon WH, Vogt RF
Clin Chem 2015 Feb;61(2):412-9. Epub 2014 Dec 11 doi: 10.1373/clinchem.2014.231019. PMID: 25502182Free PMC Article
Yao CM, Han XH, Zhang YD, Zhang H, Jin YY, Cao RM, Wang X, Liu QH, Zhao W, Chen TX
J Clin Immunol 2013 Apr;33(3):526-39. Epub 2012 Dec 19 doi: 10.1007/s10875-012-9854-1. PMID: 23250629

Therapy

Okano T, Imai K, Tsujita Y, Mitsuiki N, Yoshida K, Kamae C, Honma K, Mitsui-Sekinaka K, Sekinaka Y, Kato T, Hanabusa K, Endo E, Takashima T, Hiroki H, Yeh TW, Tanaka K, Nagahori M, Tsuge I, Bando Y, Iwasaki F, Shikama Y, Inoue M, Kimoto T, Moriguchi N, Yuza Y, Kaneko T, Suzuki K, Matsubara T, Maruo Y, Kunitsu T, Waragai T, Sano H, Hashimoto Y, Tasaki K, Suzuki O, Shirakawa T, Kato M, Uchiyama T, Ishimura M, Tauchi T, Yagasaki H, Jou ST, Yu HH, Kanegane H, Kracker S, Durandy A, Kojima D, Muramatsu H, Wada T, Inoue Y, Takada H, Kojima S, Ogawa S, Ohara O, Nonoyama S, Morio T
J Allergy Clin Immunol 2019 Jan;143(1):266-275. Epub 2018 May 18 doi: 10.1016/j.jaci.2018.04.032. PMID: 29778502
Sahin S, Adrovic A, Barut K, Ugurlu S, Turanli ET, Ozdogan H, Kasapcopur O
Rheumatol Int 2018 Jan;38(1):129-136. Epub 2017 May 17 doi: 10.1007/s00296-017-3740-3. PMID: 28516235
Heimall J, Puck J, Buckley R, Fleisher TA, Gennery AR, Neven B, Slatter M, Haddad E, Notarangelo LD, Baker KS, Dietz AC, Duncan C, Pulsipher MA, Cowan MJ
Biol Blood Marrow Transplant 2017 Mar;23(3):379-387. Epub 2017 Jan 6 doi: 10.1016/j.bbmt.2016.12.619. PMID: 28068510Free PMC Article
Ghonim MA, Pyakurel K, Ju J, Rodriguez PC, Lammi MR, Davis C, Abughazleh MQ, Mansy MS, Naura AS, Boulares AH
J Allergy Clin Immunol 2015 Feb;135(2):425-40. Epub 2014 Oct 19 doi: 10.1016/j.jaci.2014.09.005. PMID: 25441643Free PMC Article
Pal S, Bravo J, Peterson EM, de la Maza LM
Infect Immun 2008 Dec;76(12):5581-7. Epub 2008 Sep 22 doi: 10.1128/IAI.00574-08. PMID: 18809664Free PMC Article

Prognosis

Al Sukaiti N, Ahmed K, Alshekaili J, Al Kindi M, Cook MC, Farsi TA
Front Immunol 2020;11:623199. Epub 2021 Jan 15 doi: 10.3389/fimmu.2020.623199. PMID: 33519828Free PMC Article
Wahlstrom J, Patel K, Eckhert E, Kong D, Horn B, Cowan MJ, Dvorak CC
J Allergy Clin Immunol 2017 Feb;139(2):628-633.e10. Epub 2016 Jun 16 doi: 10.1016/j.jaci.2016.04.049. PMID: 27444177Free PMC Article
van der Spek J, Groenwold RH, van der Burg M, van Montfrans JM
J Clin Immunol 2015 May;35(4):416-30. Epub 2015 Apr 17 doi: 10.1007/s10875-015-0152-6. PMID: 25893636Free PMC Article
Michos A, Tzanoudaki M, Villa A, Giliani S, Chrousos G, Kanariou M
J Clin Immunol 2011 Oct;31(5):778-83. Epub 2011 Jul 6 doi: 10.1007/s10875-011-9564-0. PMID: 21732012
Yee A, De Ravin SS, Elliott E, Ziegler JB; Contributors to the Australian Paediatric Surveillance Unit.
Pediatr Allergy Immunol 2008 Jun;19(4):298-302. Epub 2008 Jan 24 doi: 10.1111/j.1399-3038.2007.00646.x. PMID: 18221464

Clinical prediction guides

Al Sukaiti N, Ahmed K, Alshekaili J, Al Kindi M, Cook MC, Farsi TA
Front Immunol 2020;11:623199. Epub 2021 Jan 15 doi: 10.3389/fimmu.2020.623199. PMID: 33519828Free PMC Article
Wahlstrom J, Patel K, Eckhert E, Kong D, Horn B, Cowan MJ, Dvorak CC
J Allergy Clin Immunol 2017 Feb;139(2):628-633.e10. Epub 2016 Jun 16 doi: 10.1016/j.jaci.2016.04.049. PMID: 27444177Free PMC Article
van der Spek J, Groenwold RH, van der Burg M, van Montfrans JM
J Clin Immunol 2015 May;35(4):416-30. Epub 2015 Apr 17 doi: 10.1007/s10875-015-0152-6. PMID: 25893636Free PMC Article
Punwani D, Wang H, Chan AY, Cowan MJ, Mallott J, Sunderam U, Mollenauer M, Srinivasan R, Brenner SE, Mulder A, Claas FH, Weiss A, Puck JM
J Clin Immunol 2015 Feb;35(2):135-46. Epub 2015 Jan 28 doi: 10.1007/s10875-014-0125-1. PMID: 25627829Free PMC Article
Villa A, Notarangelo LD, Roifman CM
J Allergy Clin Immunol 2008 Dec;122(6):1082-6. Epub 2008 Nov 6 doi: 10.1016/j.jaci.2008.09.037. PMID: 18992930

Recent systematic reviews

van der Spek J, Groenwold RH, van der Burg M, van Montfrans JM
J Clin Immunol 2015 May;35(4):416-30. Epub 2015 Apr 17 doi: 10.1007/s10875-015-0152-6. PMID: 25893636Free PMC Article
Boudes PF
Eur J Intern Med 2014 Jan;25(1):31-6. Epub 2013 Oct 12 doi: 10.1016/j.ejim.2013.09.009. PMID: 24129166

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