Nezelof syndrome

From Wikipedia, the free encyclopedia
  (Redirected from Nezelof's syndrome)
Jump to: navigation, search
Nezelof syndrome
Classification and external resources
ICD-10 D81.4
ICD-9 279.13
OMIM 242700
DiseasesDB 29571

Nezelof syndrome (also known as "Thymic dysplasia with normal immunoglobulins"[1]:85) is an autosomal recessive[2] congenital immunodeficiency condition due to underdevelopment of the thymus. An association with CD44 has been proposed.[3]

The defect is a type of purine nucleoside phosphorylase deficiency with inactive phosphorylase. This results in an accumulation of deoxy-GTP which inhibits ribonucleotide reductase. Ribonucleotide reductase catalyzes the formation of deoxyribonucleotides from ribonucleotides. Thus, DNA replication is inhibited and cells cannot replicate.

History[edit]

The disorder was characterized in 1964.[4] It is considered to be a form of combined immunodeficiency in ICD-10 but a deficiency of cell-mediated immunity in ICD-9.

Presentation[edit]

It causes severe infections and malignancies. it is characterized by elevated immunoglobulins that function poorly.

Treatment[edit]

Treatment includes antimicrobial therapy, IV immunoglobulin, bone marrow transplantation, thymus transplantation and thymus factors.

See also[edit]

External links[edit]

References[edit]

  1. ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0. 
  2. ^ Online 'Mendelian Inheritance in Man' (OMIM) 242700
  3. ^ Knutsen AP, Wall D, Mueller KR, Bouhasin JD (May 1996). "Abnormal in vitro thymocyte differentiation in a patient with severe combined immunodeficiency-Nezelof's syndrome". J. Clin. Immunol. 16 (3): 151–8. doi:10.1007/BF01540913. PMID 8734358. 
  4. ^ Nezelof C, Jammet ML, Lortholary P, Labrune B, Lamy M (Oct 1964). "Hereditary Thymic Hypoplasia: Its Place And Responsibility In A Case Of Lymphocytic, Normoplasmocytic And Normoglobulinemic Aplasia In An Infant". Archives francaises de pediatrie 21: 897–920. ISSN 0003-9764. PMID 14195287.