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MHC class I deficiency

MedGen UID:
346868
•Concept ID:
C1858266
•
Disease or Syndrome
Synonyms: Bare lymphocyte syndrome type 1; 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
Source: Orphanet
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).
Autosomal recessive inheritance (Orphanet)
 
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.

Many 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.

People 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
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.
See: Feature record | Search on this feature
Bronchiolitis
MedGen UID:
14235
•Concept ID:
C0006271
•
Disease or Syndrome
Inflammation of the bronchioles.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Recurrent bronchitis
MedGen UID:
148159
•Concept ID:
C0741796
•
Disease or Syndrome
An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis.
See: Feature record | Search on this feature
Chronic sinusitis
MedGen UID:
101751
•Concept ID:
C0149516
•
Disease or Syndrome
A chronic form of sinusitis.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Nasal polyposis
MedGen UID:
6524
•Concept ID:
C0027430
•
Anatomical Abnormality
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.
See: Feature record | Search on this feature
Skin ulcer
MedGen UID:
52369
•Concept ID:
C0037299
•
Disease or Syndrome
A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat.
See: Feature record | Search on this feature
Ectopia lentis
MedGen UID:
41704
•Concept ID:
C0013581
•
Congenital Abnormality
Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMHC class I deficiency
Follow this link to review classifications for MHC class I deficiency in Orphanet.

Professional guidelines

PubMed

Suppression of Type I IFN Signaling in Tumors Mediates Resistance to Anti-PD-1 Treatment That Can Be Overcome by Radiotherapy.
Wang X, Schoenhals JE, Li A, Valdecanas DR, Ye H, Zang F, Tang C, Tang M, Liu CG, Liu X, Krishnan S, Allison JP, Sharma P, Hwu P, Komaki R, Overwijk WW, Gomez DR, Chang JY, Hahn SM, Cortez MA, Welsh JW
Cancer Res 2017 Feb 15;77(4):839-850. Epub 2016 Nov 7 doi: 10.1158/0008-5472.CAN-15-3142. PMID: 27821490Free PMC Article
The effect of HFE genotypes on measurements of iron overload in patients attending a health appraisal clinic.
Beutler E, Felitti V, Gelbart T, Ho N
Ann Intern Med 2000 Sep 5;133(5):329-37. doi: 10.7326/0003-4819-133-5-200009050-00008. PMID: 10979877
Stabilization of transgene expression by incorporation of E3 region genes into an adenoviral factor IX vector and by transient anti-CD4 treatment of the host.
Poller W, Schneider-Rasp S, Liebert U, Merklein F, Thalheimer P, Haack A, Schwaab R, Schmitt C, Brackmann HH
Gene Ther 1996 Jun;3(6):521-30. PMID: 8789802

Recent clinical studies

Etiology

MHC class I and II deficiencies.
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

Diagnosis

A novel mutation in TAP1 gene leading to MHC class I deficiency: Report of two cases and review of the literature.
Hanalioglu D, Ayvaz DC, Ozgur TT, van der Burg M, Sanal O, Tezcan I
Clin Immunol 2017 May;178:74-78. Epub 2017 Feb 2 doi: 10.1016/j.clim.2017.01.011. PMID: 28161407
MHC class I and II deficiencies.
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

Supplemental Content

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