Nezelof syndrome
| Nezelof syndrome | |
|---|---|
| Classification and external resources | |
| Specialty | hematology |
| ICD-10 | D81.4 |
| ICD-9-CM | 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]
- ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0.
- ^ Online Mendelian Inheritance in Man (OMIM) 242700
- ^ 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.
- ^ 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 Françaises de Pédiatrie. 21: 897–920. ISSN 0003-9764. PMID 14195287.
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