Nezelof syndrome

Nezelof syndrome
Nezelof syndrome
Classification and external resources
ICD-10 D81.4
ICD-9 279.13
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]

Contents

History

It was characterized in 1964.[4]

It considered 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.

Treatment

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

External links

References

  1. ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0. 
  2. ^ Online 'Mendelian Inheritance in Man' (OMIM) 242700
  3. ^ 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. 
  4. ^ 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 francaises de pediatrie 21: 897–920. ISSN 0003-9764. PMID 14195287. 
v · d · eImmune disorders: Lymphoid and complement immunodeficiency (D80–D85, 279.0–4)
Primary
IgA deficiency · IgG deficiency · IgM deficiency · Hyper IgM syndrome (2, 3, 4, 5) · Wiskott-Aldrich syndrome · Hyper-IgE syndrome
Other
T cell deficiency (T)
thymic hypoplasia: hypoparathyroid (Di George's syndrome) · euparathyroid (Nezelof syndrome, Ataxia telangiectasia)
Acquired
Leukopenia:
Lymphocytopenia
Complement deficiency
C1-inhibitor (Angioedema/Hereditary angioedema) · Complement 2 deficiency/Complement 4 deficiency · MBL deficiency · Properdin deficiency · Complement 3 deficiency · Terminal complement pathway deficiency · Paroxysmal nocturnal hemoglobinuria · Complement receptor deficiency

M: LMC

cell/phys/auag/auab/comp, igrc

imdf/ipig/hyps/tumr

proc, drug(L3/4)



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Look at other dictionaries:

  • Nezelof syndrome — Ne·ze·lof syndrome (nĕ zə lofґ) [Christian Nezelof, French pediatrician, born 1922] see under syndrome …   Medical dictionary

  • Nezelof syndrome — Congenital T cell deficiency associated with thymic hypoplasia …   Dictionary of molecular biology

  • Nezelof syndrome — any of a heterogeneous group of immunodeficiency disorders characterized by profoundly deficient cellular immunity and varying degrees of humoral immunodeficiency. Immunoglobulin levels may be normal or increased, but antibody response to… …   Medical dictionary

  • Syndrome de Nézelof — Syndrome de Nezelof Le syndrome de Nezelof entre dans le cadre d un déficit immunitaire congénital. Il existe une hypoplasie du Thymus avec déficit de l immunité cellulaire et une immunité humorale altérée malgré des taux d immunoglobulines… …   Wikipédia en Français

  • Syndrome de nezelof — Le syndrome de Nezelof entre dans le cadre d un déficit immunitaire congénital. Il existe une hypoplasie du Thymus avec déficit de l immunité cellulaire et une immunité humorale altérée malgré des taux d immunoglobulines quantitativement normaux …   Wikipédia en Français

  • Syndrome de Nezelof — Le syndrome de Nezelof entre dans le cadre d un déficit immunitaire congénital. Il existe une hypoplasie du thymus avec déficit de l immunité cellulaire et une immunité humorale altérée malgré des taux d immunoglobulines quantitativement normaux …   Wikipédia en Français

  • syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… …   Medical dictionary

  • Nezelof — C., French pathologist, *1922. See N. syndrome, N. type of thymic alymphoplasia …   Medical dictionary

  • DiGeorge syndrome — 22q11.2 deletion syndrome Classification and external resources Brain computer tomography cuts of t …   Wikipedia

  • Omenn syndrome — Classification and external resources ICD 10 D81.2 (ILDS D81.210) OMIM 603554 Diseases …   Wikipedia

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