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MHC class I deficiency(MHC1D1)

MedGen UID:: 346868
•Concept ID:: C1858266
•: Disease or Syndrome

Synonyms:	BARE LYMPHOCYTE SYNDROME, TYPE I; BLS, TYPE I
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): Gene(s) directly associated with this condition or phenotype.	TAP1 (6p21.32); TAP2 (6p21.32); TAPBP (6p21.32)
Related gene: Gene(s) associated with related conditions. For conditions in a hierarchy, the parent condition will list the genes associated with the children conditions.	B2M

Monarch Initiative:	MONDO:0011476
OMIM®:	170260; 604571
OMIM® Phenotypic series:	PS604571
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.

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Bronchiolitis

MedGen UID:: 14235
•Concept ID:: C0006271
•: Disease or Syndrome

Inflammation of the bronchioles.

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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.

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Recurrent bronchitis

MedGen UID:: 148159
•Concept ID:: C0741796
•: Disease or Syndrome

An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis.

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Chronic sinusitis

MedGen UID:: 101751
•Concept ID:: C0149516
•: Disease or Syndrome

A chronic form of sinusitis.

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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.

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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.

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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.

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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.

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Abnormality of head or neck
- Nasal polyposis
Abnormality of the eye
- Ectopia lentis
Abnormality of the immune system
- Chronic otitis media
- Chronic sinusitis
Abnormality of the integument
- Skin ulcer
Abnormality of the respiratory system

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVMHC class I deficiency

Non-SCID combined immunodeficiency
- MHC 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: 27821490 Free 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

See all (3)

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

See all (1)

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

See all (2)

Therapy

Facts and Hopes on Cancer Immunotherapy for Small Cell Lung Cancer.

Zugazagoitia J, Osma H, Baena J, Ucero AC, Paz-Ares L
Clin Cancer Res 2024 Jul 15;30(14):2872-2883. doi: 10.1158/1078-0432.CCR-23-1159. PMID: 38630789

See all (1)

MedGen

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Links from OMIM

MHC class I deficiency(MHC1D1)

Definition

Clinical features

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

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