Nezelof syndrome

Nezelof syndrome is an autosomal recessive[6] 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.

Nezelof syndrome
Other namesThymic dysplasia with normal immunoglobulins[1]: 85 
Autosomal recessive is the manner in which this condition is inherited
SpecialtyImmunology 
SymptomsHepatosplenomegaly[2]
CausesCurrently unknown[3]
Diagnostic methodBlood test[3][4]
TreatmentAntimicrobial therapy, IV immunoglobulin[5]

Symptoms and signs

This condition causes severe infections. it is characterized by elevated immunoglobulins that function poorly.[7][8] Other symptoms are:[2]

Cause

Genetically speaking, Nezelof syndrome is autosomal recessive. the condition is thought to be a variation of severe combined immunodeficiency (SCID).[8] However, the precise cause of Nezelof syndrome remains uncertain[3]

Mechanism

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[9] Hassal's corpuscles[10] absence in thymus(atrophy) has an effect on T-cells.[3]

Diagnosis
Human Thymus

The diagnosis of Nezelof syndrome will indicate a deficiency of T-cells,[11] additionally in ascertaining the condition the following is done:[3][4]

Differential diagnosis

The differential diagnosis for this condition consists of acquired immune deficiency syndrome and severe combined immunodeficiency syndrome[3][8]

Treatment
Bone marrow for transplant

In terms of treatment for individuals with Nezelof syndrome, which was first characterized in 1964,[12] includes the following(how effective bone marrow transplant is uncertain[4]) :

See also

References
  1. James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 978-0-7216-2921-6.
  2. "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.
  3. 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.
  4. Mosby (2016-04-28). Mosby's Dictionary of Medicine, Nursing & Health Professions - eBook. Elsevier Health Sciences. p. 1226. ISBN 9780323414197.
  5. 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.
  6. Online Mendelian Inheritance in Man (OMIM): 242700
  7. Cantani, Arnaldo (2008-01-23). Pediatric Allergy, Asthma and Immunology. Springer Science & Business Media. p. 1298. ISBN 9783540333951.
  8. Disorders, National Organization for Rare (2003). NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. p. 408. ISBN 9780781730631.
  9. Pearse, Gail (2006-08-01). "Normal Structure, Function and Histology of the Thymus". Toxicologic Pathology. 34 (5): 504–514. doi:10.1080/01926230600865549. ISSN 0192-6233. PMID 17067941.
  10. 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.
  11. Wallach, Jacques Burton (2007). Interpretation of Diagnostic Tests. Lippincott Williams & Wilkins. p. 504. ISBN 9780781730556. Nezelof syndrome diagnosis.
  12. 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 Françaises de Pédiatrie. 21: 897–920. ISSN 0003-9764. PMID 14195287.

Further reading
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