Nezelof syndrome

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Nezelof syndrome
Other namesThymic dysplasia with normal immunoglobulins [1] : 85 
Autosomal recessive - en.svg
Autosomal recessive is the manner in which this condition is inherited
Specialty Immunology   OOjs UI icon edit-ltr-progressive.svg
Symptoms Hepatosplenomegaly [2]
CausesCurrently unknown [3]
Diagnostic method Blood test [3] [4]
TreatmentAntimicrobial therapy, IV immunoglobulin [5]

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.[ medical citation needed ]

Contents

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 Gray1178.png
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 KM Transplantat.JPEG
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

Related Research Articles

<span class="mw-page-title-main">Thymus</span> Endocrine gland

The thymus is a specialized primary lymphoid organ of the immune system. Within the thymus, thymus cell lymphocytes or T cells mature. T cells are critical to the adaptive immune system, where the body adapts to specific foreign invaders. The thymus is located in the upper front part of the chest, in the anterior superior mediastinum, behind the sternum, and in front of the heart. It is made up of two lobes, each consisting of a central medulla and an outer cortex, surrounded by a capsule.

<span class="mw-page-title-main">Immunosuppression</span> Decreased resistance to infection

Immunosuppression is a reduction of the activation or efficacy of the immune system. Some portions of the immune system itself have immunosuppressive effects on other parts of the immune system, and immunosuppression may occur as an adverse reaction to treatment of other conditions.

Immunodeficiency, also known as immunocompromisation, is a state in which the immune system's ability to fight infectious diseases and cancer is compromised or entirely absent. Most cases are acquired ("secondary") due to extrinsic factors that affect the patient's immune system. Examples of these extrinsic factors include HIV infection and environmental factors, such as nutrition. Immunocompromisation may also be due to genetic diseases/flaws such as SCID.

<span class="mw-page-title-main">Adenosine deaminase deficiency</span> Medical condition

Adenosine deaminase deficiency is a metabolic disorder that causes immunodeficiency. It is caused by mutations in the ADA gene. It accounts for about 10–20% of all cases of autosomal recessive forms of severe combined immunodeficiency (SCID) after excluding disorders related to inbreeding.

<span class="mw-page-title-main">Stomatitis</span> Inflammation of the mouth and lips

Stomatitis is inflammation of the mouth and lips. It refers to any inflammatory process affecting the mucous membranes of the mouth and lips, with or without oral ulceration.

<span class="mw-page-title-main">Omenn syndrome</span> Medical condition

Omenn syndrome is an autosomal recessive severe combined immunodeficiency. It is associated with hypomorphic missense mutations in immunologically relevant genes of T-cells such as recombination activating genes, Interleukin-7 receptor-α (IL7Rα), DCLRE1C-Artemis, RMRP-CHH, DNA-Ligase IV, common gamma chain, WHN-FOXN1, ZAP-70 and complete DiGeorge syndrome. It is fatal without treatment.

<span class="mw-page-title-main">ZAP70 deficiency</span> Medical condition

ZAP70 deficiency, or ZAP70 deficient SCID, is a rare autosomal recessive form of severe combined immunodeficiency (SCID) resulting in a lack of CD8+ T cells. People with this disease lack the capability to fight infections, and it is fatal if untreated.

Aplasia is a birth defect where an organ or tissue is wholly or largely absent. It is caused by a defect in a developmental process.

<span class="mw-page-title-main">Combined immunodeficiencies</span> Medical condition

Combined immune deficiencies (CIDs) are a diverse group of inherited immune disorders characterized by impaired T lymphocyte development, function, or both, with variable B cell defects. The primary clinical manifestation of CID is infection susceptibility. Clinical manifestations of combined immunodeficiencies vary greatly, ranging from diarrhea and sinus infections to opportunistic infections caused by mycobacteria, fungi, and vaccination reactions resulting in localized to systemic symptoms.

<span class="mw-page-title-main">Hyper-IgM syndrome type 5</span> Primary immune deficiency disorder

The fifth type of hyper-IgM syndrome has been characterized in three patients from France and Japan. The symptoms are similar to hyper IgM syndrome type 2, but the AICDA gene is intact.

Primary immunodeficiencies are disorders in which part of the body's immune system is missing or does not function normally. To be considered a primary immunodeficiency (PID), the immune deficiency must be inborn, not caused by secondary factors such as other disease, drug treatment, or environmental exposure to toxins. Most primary immunodeficiencies are genetic disorders; the majority are diagnosed in children under the age of one, although milder forms may not be recognized until adulthood. While there are over 430 recognized inborn errors of immunity (IEIs) as of 2019, the vast majority of which are PIDs, most are very rare. About 1 in 500 people in the United States are born with a primary immunodeficiency. Immune deficiencies can result in persistent or recurring infections, auto-inflammatory disorders, tumors, and disorders of various organs. There are currently limited treatments available for these conditions; most are specific to a particular type of PID. Research is currently evaluating the use of stem cell transplants (HSCT) and experimental gene therapies as avenues for treatment in limited subsets of PIDs.

<span class="mw-page-title-main">Purine nucleoside phosphorylase deficiency</span> Medical condition

Purine nucleoside phosphorylase deficiency is a rare autosomal recessive metabolic disorder which results in immunodeficiency.

Thymoma with immunodeficiency is a rare disorder that occurs in adults in whom hypogammaglobulinemia, deficient cell-mediated immunity, and thymoma may develop almost simultaneously. Most reported cases are in Europe, though it occurs globally.

Hans Dieter Ochs, is an immunologist and pediatrician. He is Professor of Pediatrics, Division of Immunology, Department of Pediatrics, University of Washington School of Medicine, Seattle.

Thymus transplantation is a form of organ transplantation where the thymus is moved from one body to another. It is used in certain immunodeficiencies, such as DiGeorge Syndrome.

Ectopic thymus is a condition where thymus tissue is found in an abnormal location (ectopia). It usually does not cause symptoms, but may leads to a mass in the neck that may compress the trachea and the esophagus. It is thought to be the result of either a failure of descent or a failure of involution of normal thymus tissue. It may be diagnosed with radiology, such as an ultrasound or magnetic resonance imaging. If it causes illness, surgery can be used to remove it. Recurrence after surgery is very unlikely.

<span class="mw-page-title-main">Cernunnos deficiency</span> Medical condition

Cernunnos deficiency is a form of combined immunodeficiency characterized by microcephaly, due to mutations in the NHEJ1 gene, it is inherited via autosomal recessive manner Management for this condition is antiviral prophylaxis and antibiotic treatment.

<span class="mw-page-title-main">T cell deficiency</span> Medical condition

T cell deficiency is a deficiency of T cells, caused by decreased function of individual T cells, it causes an immunodeficiency of cell-mediated immunity. T cells normal function is to help with the human body's immunity, they are one of the two primary types of lymphocytes(the other being B cells).

Arthur J. Ammann was an American pediatric immunologist and advocate known for his research on HIV transmission, discovering in utero transmission and the risk of contaminated transfusions and blood products, and his role in the development of the first successful vaccine to prevent pneumococcal infection in 1977. He founded Global Strategies for HIV Prevention and was Clinical Professor of Pediatrics at the UCSF Medical Center.

<span class="mw-page-title-main">Breast atrophy</span> Shrinkage of the breasts

Breast atrophy is the normal or spontaneous atrophy or shrinkage of the breasts.

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. 1 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. 1 2 3 4 5 6 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. 1 2 3 Mosby (2016-04-28). Mosby's Dictionary of Medicine, Nursing & Health Professions - eBook. Elsevier Health Sciences. p. 1226. ISBN   9780323414197.
  5. 1 2 3 4 5 6 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. 1 2 3 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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