Nezelof syndrome explained

Nezelof syndrome
Synonyms:	Thymic dysplasia with normal immunoglobulins^[1]
Symptoms:	Hepatosplenomegaly
Causes:	Currently unknown
Diagnosis:	Blood test
Treatment:	Antimicrobial therapy, IV immunoglobulin

Nezelof syndrome is an autosomal recessive 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.

Symptoms and signs

This condition causes severe infections. it is characterized by elevated immunoglobulins that function poorly.^{[2] [3]} Other symptoms are:^[4]

• Bronchiectasis
• Hepatosplenomegaly
• Pyoderma
• Emphysema
• Diarrhea

Cause

Genetically speaking, Nezelof syndrome is autosomal recessive. the condition is thought to be a variation of severe combined immunodeficiency (SCID).^[3] However, the precise cause of Nezelof syndrome remains uncertain^[5]

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^[6] Hassal's corpuscles^[7] absence in thymus(atrophy) has an effect on T-cells.^[5]

Diagnosis

The diagnosis of Nezelof syndrome will indicate a deficiency of T-cells,^[8] additionally in ascertaining the condition the following is done:^{[5] [9]}

• Blood test (B-cells will be normal)

• X-ray of thymus (atrophy present)

Differential diagnosis

The differential diagnosis for this condition consists of acquired immune deficiency syndrome and severe combined immunodeficiency syndrome^{[5] [3]}

Treatment

In terms of treatment for individuals with Nezelof syndrome, which was first characterized in 1964,^[10] includes the following(how effective bone marrow transplant is uncertain^[9]) :

• Antimicrobial therapy
• IV immunoglobulin
• Bone marrow transplantation
• Thymus transplantation
• Thymus factors^[11]

See also

• List of radiographic findings associated with cutaneous conditions

Further reading

• Book: Thymus Gland Pathology: Clinical, Diagnostic and Therapeutic Features. Lavini. Corrado. Moran. Cesar A.. Uliano. Morandi. Schoenhuber. Rudolf. 2009-05-08. Springer Science & Business Media. 9788847008281. en.

External links

• PubMed

Notes and References

1. Book: James, William D. . Berger, Timothy G.. Andrews' Diseases of the Skin: clinical Dermatology . Saunders Elsevier . 2006 . 978-0-7216-2921-6 . etal.
2. Book: Cantani, Arnaldo. Pediatric Allergy, Asthma and Immunology. 2008-01-23. Springer Science & Business Media. 1298. 9783540333951. en.
3. Book: Disorders, National Organization for Rare. NORD Guide to Rare Disorders. 2003. Lippincott Williams & Wilkins. 408. 9780781730631. en.
4. Web site: Immune defect due to absence of thymus Genetic and Rare Diseases Information Center (GARD) – an NCATS Program. rarediseases.info.nih.gov. en. 2017-06-02.
5. Book: Lavini. Corrado. Moran. Cesar A.. Uliano. Morandi. Schoenhuber. Rudolf. Thymus Gland Pathology: Clinical, Diagnostic and Therapeutic Features. 2009. Springer Science & Business Media. 9788847008281. 35 & 22. 7 June 2017. en.
6. Pearse. Gail. 2006-08-01. Normal Structure, Function and Histology of the Thymus. Toxicologic Pathology. en. 34. 5. 504–514. 10.1080/01926230600865549. 17067941. 0192-6233. free.
7. Book: Histology and Cell Biology: An Introduction to Pathology E-Book. Kierszenbaum. Abraham L.. Tres. Laura. 2015-05-04. Elsevier Health Sciences. 339. 9780323313353. en.
8. Book: Wallach, Jacques Burton. Interpretation of Diagnostic Tests. registration. Nezelof syndrome diagnosis.. 2007. Lippincott Williams & Wilkins. 504. 9780781730556. en.
9. Book: Mosby. Mosby's Dictionary of Medicine, Nursing & Health Professions - eBook. 2016-04-28. Elsevier Health Sciences. 1226. 9780323414197. en.
10. Nezelof. C.. Jammet. M. L.. Lortholary. P.. Labrune. B.. Lamy. M.. October 1964. Archives Françaises de Pédiatrie. 21. 897–920. 0003-9764. 14195287. Hereditary Thymic Hypoplasia: ITS Place and Responsibility in a Case of Lymphocytic, Normoplasmocytic and Normoglobulinemic Aplasia in an Infant.
11. Book: Smeltzer. Suzanne C. O'Connell. Bare. Brenda G.. Hinkle. Janice L.. Cheever. Kerry H.. Brunner & Suddarth's Textbook of Medical-surgical Nursing. 2010. Lippincott Williams & Wilkins. 9780781785891. 1563. 12. 6 June 2017. en.