Bare lymphocyte syndrome type II
Dernière mise à jour 18 Aug 2020
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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.
Description
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.
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).
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Other names
Bare lymphocyte syndrome type 2
BLS type II
Major histocompatibility complex class II deficiency
MHC class II deficiency
SCID due to absence of class II HLA antigens
SCID, HLA class 2-negative
SCID, HLA class II-negative
Severe combined immunodeficiency due to absent class II human leukocyte antigens
Severe combined immunodeficiency, HLA class II-negative
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Lectures complémentaires et références
- Bare lymphocyte syndrome type II; MedlinePlus, National Library of Medicine.
- Ahmed A, Reith W, Puck JM, Cheng LE. Novel Mutation in the Class II Transactivator Associated with Immunodeficiency and Autoimmunity. J Clin Immunol. 2015 Aug;35(6):521-2. doi: 10.1007/s10875-015-0183-z. Epub 2015 Aug 14. No abstract available.
- Burd AL, Ingraham RH, Goldrick SE, Kroe RR, Crute JJ, Grygon CA. Assembly of major histocompatibility complex (MHC) class II transcription factors: association and promoter recognition of RFX proteins. Biochemistry. 2004 Oct 12;43(40):12750-60. doi: 10.1021/bi030262o.
- Garvie CW, Boss JM. Assembly of the RFX complex on the MHCII promoter: role of RFXAP and RFXB in relieving autoinhibition of RFX5. Biochim Biophys Acta. 2008 Dec;1779(12):797-804. doi: 10.1016/j.bbagrm.2008.07.012. Epub 2008 Aug 6.
- Gobin SJ, Peijnenburg A, van Eggermond M, van Zutphen M, van den Berg R, van den Elsen PJ. The RFX complex is crucial for the constitutive and CIITA-mediated transactivation of MHC class I and beta2-microglobulin genes. Immunity. 1998 Oct;9(4):531-41. doi: 10.1016/s1074-7613(00)80636-6.
- Saleem MA, Arkwright PD, Davies EG, Cant AJ, Veys PA. Clinical course of patients with major histocompatibility complex class II deficiency. Arch Dis Child. 2000 Oct;83(4):356-9. doi: 10.1136/adc.83.4.356.
- Shrestha D, Szollosi J, Jenei A. Bare lymphocyte syndrome: an opportunity to discover our immune system. Immunol Lett. 2012 Jan 30;141(2):147-57. doi: 10.1016/j.imlet.2011.10.007. Epub 2011 Oct 17.
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