Nezelof syndrome

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Nezelof syndrome
ICD-10 D81.4
ICD-9 279.13
OMIM 242700
DiseasesDB 29571

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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

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References

  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 Françaises de Pédiatrie. 21: 897–920. ISSN 0003-9764. PMID 14195287.