Nezelof syndrome

Nezelof syndrome
Classification and external resources
Specialty	hematology
ICD-10	D81.4
ICD-9-CM	279.13
OMIM	242700
DiseasesDB	29571

Nezelof syndrome (also known as "Thymic dysplasia with normal immunoglobulins"^[1]^:85) is an autosomal recessive^[2] congenital immunodeficiency condition due to underdevelopment of the thymus. An association with CD44 has been proposed.^[3]

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 and cells cannot replicate.

History

The disorder was characterized in 1964.^[4] It is considered to be a form of combined immunodeficiency in ICD-10 but a deficiency of cell-mediated immunity in ICD-9.

Presentation

It causes severe infections and malignancies. it is characterized by elevated immunoglobulins that function poorly.

Treatment

Treatment includes antimicrobial therapy, IV immunoglobulin, bone marrow transplantation, thymus transplantation and thymus factors.

External links

1597308962 at GPnotebook

References

↑ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0.
↑ Online Mendelian Inheritance in Man (OMIM) 242700
↑ Knutsen AP, Wall D, Mueller KR, Bouhasin JD (May 1996). "Abnormal in vitro thymocyte differentiation in a patient with severe combined immunodeficiency-Nezelof's syndrome". J. Clin. Immunol. 16 (3): 151–8. doi:10.1007/BF01540913. PMID 8734358.
↑ Nezelof C, Jammet ML, Lortholary P, Labrune B, Lamy M (Oct 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.

Immune disorders: Lymphoid and complement immunodeficiency (D80–D85, 279.0–4)

Primary

Antibody/humoral (B)

Hypogammaglobulinemia	X-linked agammaglobulinemia Transient hypogammaglobulinemia of infancy

Dysgammaglobulinemia	IgA deficiency IgG deficiency IgM deficiency Hyper IgM syndrome (1 2 3 4 5) Wiskott-Aldrich syndrome Hyper-IgE syndrome

Other	Common variable immunodeficiency ICF syndrome

T cell deficiency (T)

thymic hypoplasia: hypoparathyroid (Di George's syndrome)
euparathyroid (Nezelof syndrome
Ataxia telangiectasia)

peripheral: Purine nucleoside phosphorylase deficiency

Hyper IgM syndrome (1)

Severe combined (B+T)

x-linked: X-SCID
autosomal: Adenosine deaminase deficiency
Omenn syndrome
ZAP70 deficiency
Bare lymphocyte syndrome

Acquired

AIDS

Leukopenia:
Lymphocytopenia

Idiopathic CD4+ lymphocytopenia

Complement deficiency

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