bare lymphocyte syndrome


Also found in: Acronyms, Wikipedia.

bare lym·pho·cyte syn·drome

absence of HLA antigens on peripheral mononuclear cells, which may result in immunodeficiency.
Farlex Partner Medical Dictionary © Farlex 2012

bare lymphocyte syndrome

An autosomal recessive form of severe combined immunodeficiency (OMIM:209920), which is described in several North African kindreds. It results from non-expression of HLA-A, -B or -C (Class-I MHC), related to a defect in surface expression of beta2-microglobulin; in some patients, HLA-Dr is also not expressed.

Clinical findings
Variable: from asymptomatic to mucocutaneous candidiasis, respiratory tract infections, opportunistic infections, chronic diarrhoea, malabsorption, poor response to antigens, aplastic anaemia, and leukopaenia with normal/increased B cells and decreased T cells.
 
Molecular pathology
Possibly due to a defect in gene activation and/or a defect in accessibility of the promoter protein; mutations in any of four genes can cause the BSL:
• Class-II trans-activator (CIITA);
• Regulatory factor of the X box 5 (RFX5)
• RFX-associated protein (RFXAP);
• RFX ankyrin repeats (RFXANK).

Management
Bone marrow transplantation.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.

bare lymph·o·cyte syn·drome

(bār lim'fŏ-sīt sin' drōm)
Absence of human leukocyte antigens on peripheral mononuclear cells, which may result in immunodeficiency.
Medical Dictionary for the Health Professions and Nursing © Farlex 2012

bare lymphocyte syndrome

A rare autosomal recessive immunodeficiency genetic disorder that results in the absence of the class 2 MAJOR HISTOCOMPATIBILITY COMPLEX glycoprotein molecules. Children with this mutation are extremely susceptible to infection with all kinds of organisms and seldom survive for more than four years from birth.
Collins Dictionary of Medicine © Robert M. Youngson 2004, 2005