Nezelof syndrome
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
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.
Historical Perspective
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.
Classification
Pathophysiology
Causes
Differentiating Nezelof syndrome from Other Diseases
Epidemiology and Demographics
Risk Factors
Screening
Natural History, Complications, and Prognosis
Natural History
Complications
Prognosis
Diagnosis
It causes severe infections and malignancies. it is characterized by elevated immunoglobulins that function poorly.
History and Symptoms
Physical Examination
Laboratory Findings
Imaging Findings
Other Diagnostic Studies
Treatment
Medical Therapy
Treatment includes antimicrobial therapy, IV immunoglobulin, bone marrow transplantation, thymus transplantation and thymus factors.
Surgery
Prevention
External links
See also
References
- ↑ 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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