Bare lymphocyte syndrome

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Bare lymphocyte syndrome Classification and external resources
ICD-10	D81.6
OMIM	604571 209920
DiseasesDB	29570 31627
MeSH	D016511

Bare lymphocyte syndrome is a condition caused by deficiencies in major histocompatibility complex:

• Type 1: MHC class I
• Type 2: MHC class II

The bare lymphocyte syndrome, type II (BLS II) is a rare recessive genetic condition in which a group of genes called major histocompatibility complex class II (MHC class II) are not expressed. The result is that the immune system is severely compromised and cannot effectively fight infection. Clinically, this is similar to severe combined immunodeficiency (SCID), in which lymphocyte precursor cells are improperly formed.

[edit] Genetics

The genetic basis for BLSII is not due to defects in the MHC II genes themselves. The genetic basis is the result of mutations in genes that code for proteins (transcription factors) that normally regulate the expression (gene transcription) of the MHC II genes . That is, one of the several proteins that are required to switch on MHC II genes in various cells types (primarily those in the immune system) is absent. The genes responsible were cloned by the laboratories of Bernard Mach^[1] in Switzerland and Jeremy Boss^[2] at Emory University in Atlanta, Georgia. Mutation in any one of four genes can lead to BLS II. The genes' names are: class II trans-activator (CIITA), regulatory factor of the X box 5 (RFX5), RFX-associated protein (RFXAP) and RFX ankyrin repeats (RFXANK; also known as RFXB).

[edit] Treatment

Though BLSII is an attractive candidate for gene therapy , bone marrow transplant is currently the only treatment.

[edit] References

v • d • e Pathology: Immune disorders (primarily D80-D89, 273, 279) Immunodeficiency/ primary Antibody/humoral (B) Hypogammaglobulinemia/agammaglobulinemia (X-linked, Transient of infancy) - Dysgammaglobulinemia (IgA, IgG) - Common variable immunodeficiency - WHIM syndrome Cell-mediated (T) DiGeorge syndrome - Nezelof syndrome - Purine nucleoside phosphorylase deficiency Combined (B+T) Severe combined immunodeficiency (Adenosine deaminase deficiency, Omenn syndrome, X-SCID, ZAP70 deficiency) - Bare lymphocyte syndrome - Wiskott-Aldrich syndrome Complement deficiency Angioedema PBD chemotaxis/degranulation (Leukocyte adhesion deficiency, Chédiak-Higashi syndrome, Hyper-IgE syndrome) respiratory burst (Chronic granulomatous disease, Myeloperoxidase deficiency) Other ICF syndrome Immunoproliferative Hypergammaglobulinemia Paraproteinemia (Cryoglobulinemia, Heavy chain disease, POEMS syndrome, Monoclonal gammopathy of undetermined significance) Lymphoproliferative disorders (Sarcoidosis) Hypersensitivity Type I (Allergy) - Type II - Type III (Serum sickness) - Type IV (Contact dermatitis) Autoimmunity/Autoimmune disease See also hematological malignancy and hematology