Nezelof syndrome

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Nezelof syndrome
Autosomal recessive - en.svg
Autosomal recessive
Classification and external resources
Specialty immunology
ICD-10 D81.4
ICD-9-CM 279.13
OMIM 242700
DiseasesDB 29571
Orphanet 83471

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. 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.[medical citation needed]

Symptoms and signs[edit]

This condition causes severe infections. it is characterized by elevated immunoglobulins that function poorly[3].[4] Other symptoms are[5]:

Cause[edit]

Genetically speaking, Nezelof syndrome is autosomal recessive. the condition is thought to be a variation of severe combined immunodeficiency(SCID)[4] However, the precise cause of Nezelof syndrome remains uncertain[6]

Mechanism[edit]

In the mechanism of this condition, one first finds that the normal function of the thymus has it being important in T-cell development and release into the body's blood circulation[7] Hassal's corpuscles[8]absence in thymus(atrophy) has an effect on T-cells.[6]

Diagnosis[edit]

Human Thymus

The diagnosis of Nezelof syndrome will indicate a deficiency of T-cells,[9] additionally in ascertaining the condition the following is done:[6][10]

Differential diagnosis[edit]

The differential diagnosis for this condition consists of acquired immune deficiency syndrome and severe combined immunodeficiency syndrome[6][4]

Treatment[edit]

Bone marrow for transplant

In terms of treatment for individuals with Nezelof syndrome, which was first characterized in 1964[11], includes the following(how effective bone marrow transplant is uncertain[10]) :

See also[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. ^ Cantani, Arnaldo (2008-01-23). Pediatric Allergy, Asthma and Immunology. Springer Science & Business Media. p. 1298. ISBN 9783540333951. 
  4. ^ a b c Disorders, National Organization for Rare (2003). NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. p. 408. ISBN 9780781730631. 
  5. ^ "Immune defect due to absence of thymus | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2017-06-02. 
  6. ^ a b c d Lavini, Corrado; Moran, Cesar A.; Uliano, Morandi; Schoenhuber, Rudolf (2009). Thymus Gland Pathology: Clinical, Diagnostic and Therapeutic Features. Springer Science & Business Media. p. 35 & 22. ISBN 9788847008281. Retrieved 7 June 2017. 
  7. ^ Pearse, Gail (2006-08-01). "Normal Structure, Function and Histology of the Thymus". Toxicologic Pathology. 34 (5): 504–514. ISSN 0192-6233. doi:10.1080/01926230600865549. 
  8. ^ Kierszenbaum, Abraham L.; Tres, Laura (2015-05-04). Histology and Cell Biology: An Introduction to Pathology E-Book. Elsevier Health Sciences. p. 339. ISBN 9780323313353. 
  9. ^ Wallach, Jacques Burton (2007). Interpretation of Diagnostic Tests. Lippincott Williams & Wilkins. p. 504. ISBN 9780781730556. 
  10. ^ a b Mosby (2016-04-28). Mosby's Dictionary of Medicine, Nursing & Health Professions - eBook. Elsevier Health Sciences. p. 1226. ISBN 9780323414197. 
  11. ^ Nezelof, C.; Jammet, M. L.; Lortholary, P.; Labrune, B.; Lamy, M. (October 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. 
  12. ^ a b c d e Smeltzer, Suzanne C. O'Connell; Bare, Brenda G.; Hinkle, Janice L.; Cheever, Kerry H. (2010). Brunner & Suddarth's Textbook of Medical-surgical Nursing (12 ed.). Lippincott Williams & Wilkins. p. 1563. ISBN 9780781785891. Retrieved 6 June 2017. 

Further reading[edit]

External links[edit]