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Nezelof syndrome

Field	Value
name	Nezelof syndrome
image	Autosomal recessive - en.svg
caption	Autosomal recessive is the manner in which this condition is inherited
synonyms	Thymic dysplasia with normal immunoglobulins
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. Other symptoms are:

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).

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 Hassal's corpuscles absence in thymus(atrophy) has an effect on T-cells.

Diagnosis

The diagnosis of Nezelof syndrome will indicate a deficiency of T-cells, additionally in ascertaining the condition the following is done: ::::::::::*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

Treatment

In terms of treatment for individuals with Nezelof syndrome, which was first characterized in 1964, includes the following (effectiveness of bone marrow transplant is uncertain) :

Antimicrobial therapy
IV immunoglobulin
Bone marrow transplantation
Thymus transplantation
Thymus factors

References

James, William D.. (2006). "Andrews' Diseases of the Skin: clinical Dermatology". Saunders Elsevier.
{{OMIM. 242700
Cantani, Arnaldo. (2008-01-23). "Pediatric Allergy, Asthma and Immunology". Springer Science & Business Media.
Disorders, National Organization for Rare. (2003). "NORD Guide to Rare Disorders". Lippincott Williams & Wilkins.
"Immune defect due to absence of thymus {{!}} Genetic and Rare Diseases Information Center (GARD) – an NCATS Program".
Lavini, Corrado. (2009). "Thymus Gland Pathology: Clinical, Diagnostic and Therapeutic Features". Springer Science & Business Media.
Pearse, Gail. (2006-08-01). "Normal Structure, Function and Histology of the Thymus". Toxicologic Pathology.
Kierszenbaum, Abraham L.. (2015-05-04). "Histology and Cell Biology: An Introduction to Pathology E-Book". Elsevier Health Sciences.
Wallach, Jacques Burton. (2007). "Interpretation of Diagnostic Tests". Lippincott Williams & Wilkins.
Mosby. (2016-04-28). "Mosby's Dictionary of Medicine, Nursing & Health Professions - eBook". Elsevier Health Sciences.
Nezelof, C.. (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.
Smeltzer, Suzanne C. O'Connell. (2010). "Brunner & Suddarth's Textbook of Medical-surgical Nursing". Lippincott Williams & Wilkins.

Info: Wikipedia Source

This article was imported from Wikipedia and is available under the Creative Commons Attribution-ShareAlike 4.0 License. Content has been adapted to SurfDoc format. Original contributors can be found on the article history page.

immunodeficiency noninfectious-immunodeficiency-related-cutaneous-conditions autosomal-recessive-disorders

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