Nezelof syndrome
| Nezelof syndrome | |
|---|---|
| Other names | Thymic dysplasia with normal immunoglobulins[1]: 85 |
 | |
| Autosomal recessive is the manner in which this condition is inherited | |
| Specialty | Immunology  |
| Symptoms | Hepatosplenomegaly[2] |
| Causes | Currently unknown[3] |
| Diagnostic method | Blood test[3][4] |
| Treatment | Antimicrobial therapy, IV immunoglobulin[5] |
Nezelof syndrome is an
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
Diagnosis
The diagnosis of Nezelof syndrome will indicate a deficiency of
- B-cellswill be normal)
- X-ray of thymus (atrophy present)
Differential diagnosis
The differential diagnosis for this condition consists of
Treatment
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]) :
- Antimicrobial therapy[5]
- IV immunoglobulin[5]
- Bone marrow transplantation[5]
- Thymus transplantation[5]
- Thymus factors[5]
See also
References
- ISBN 978-0-7216-2921-6.
- ^ a b "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.
- ^ ISBN 9788847008281. Retrieved 7 June 2017.
- ^ ISBN 9780323414197.
- ^ ISBN 9780781785891. Retrieved 6 June 2017.
- ^ Online Mendelian Inheritance in Man (OMIM): 242700
- ISBN 9783540333951.
- ^ ISBN 9780781730631.
- PMID 17067941.
- ISBN 9780323313353.
- ISBN 9780781730556.
Nezelof syndrome diagnosis.
- PMID 14195287.
Further reading
- Lavini, Corrado; Moran, Cesar A.; Uliano, Morandi; Schoenhuber, Rudolf (2009-05-08). Thymus Gland Pathology: Clinical, Diagnostic and Therapeutic Features. Springer Science & Business Media. ISBN 9788847008281.
External links
