Nezelof syndrome
Encyclopedia
Nezelof syndrome is an autosomal recessive
congenital immunodeficiency
condition due to underdevelopment of the thymus
.
An association with CD44
has been proposed.
It considered a form of combined immunodeficiency in ICD-10
but a deficiency of cell-mediated immunity
in ICD-9.
and thymus factors.
Recessive
In genetics, the term "recessive gene" refers to an allele that causes a phenotype that is only seen in a homozygous genotype and never in a heterozygous genotype. Every person has two copies of every gene on autosomal chromosomes, one from mother and one from father...
congenital immunodeficiency
Immunodeficiency
Immunodeficiency is a state in which the immune system's ability to fight infectious disease is compromised or entirely absent. Immunodeficiency may also decrease cancer immunosurveillance. Most cases of immunodeficiency are acquired but some people are born with defects in their immune system,...
condition due to underdevelopment of the thymus
Thymus
The thymus is a specialized organ of the immune system. The thymus produces and "educates" T-lymphocytes , which are critical cells of the adaptive immune system....
.
An association with CD44
CD44
The CD44 antigen is a cell-surface glycoprotein involved in cell–cell interactions, cell adhesion and migration. In humans, the CD44 antigen is encoded by the CD44 gene.- Tissue distribution and isoforms :...
has been proposed.
History
It was characterized in 1964.It considered a form of combined immunodeficiency in ICD-10
ICD-10
The International Statistical Classification of Diseases and Related Health Problems, 10th Revision is a medical classification list for the coding of diseases, signs and symptoms, abnormal findings, complaints, social circumstances, and external causes of injury or diseases, as maintained by the...
but a deficiency of cell-mediated immunity
Cell-mediated immunity
Cell-mediated immunity is an immune response that does not involve antibodies but rather involves the activation of macrophages, natural killer cells , antigen-specific cytotoxic T-lymphocytes, and the release of various cytokines in response to an antigen...
in ICD-9.
Treatment
Treatment includes antimicrobial therapy, IV immunoglobulin, bone marrow transplantation, thymus transplantationThymus transplantation
Thymus transplantation is a form of organ transplantation where the thymus is moved from one body to another.-Indication:Thymus transplantation can be used to treat infants with DiGeorge syndrome, which results in an absent or hypoplastic thymus, in turn causing problems with the immune system's...
and thymus factors.