X-linked lymphoproliferative syndrome

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Classification according to ICD-10
D82.3 Immunodeficiency with hereditary defective reaction to Epstein-Barr virus -

X-linked lymphoproliferative disease

ICD-10 online (WHO version 2019)

An X-linked lymphoproliferative syndrome is an inherited form of a lymphoproliferative syndrome , namely an acutely fatal or chronic mononucleosis due to an impaired immune reaction to the Epstein-Barr virus .

Subdivision

According to the genetic basis, two forms are distinguished:

  • Type I: Purtilo Syndrome or Duncan's Syndrome

The disease is based on mutations in the SH2D1A gene at location Xq25, which codes for the SLAM-associated protein (SAP).

The name refers to the author of the first description from 1974 DT Purtilo . Duncan is the name of the family described.

  • Type II: XIAP deficiency

The disease is also based on mutations at location Xq25, but in the XIAP gene.

distribution

The frequency is given as less than 1 in 1,000,000, type I inheritance is X-linked - recessive .

Clinical manifestations

Clinical criteria are: chronic course if the acute infection survives with hypogammaglobulinaemia , lymphatic organ infiltration or aplastic anemia . In addition, congenital malformations of the heart or CNS can occasionally occur.

In type II, splenomegaly is the differentiating and clinical early sign of the disease.

diagnosis

The diagnosis can be made if the following abnormalities are present: atypical lymphocytosis , lack of formation of heterophilic antibodies and anti-Epstein-Barr virus capsid antigen, lack of formation of anti-EBNA.

treatment

The causal treatment is a bone marrow transplant .

forecast

The outlook is determined by complications from the infections .

Web links

Individual evidence

  1. ↑ a b Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
  2. ↑ XLP1.  In: Online Mendelian Inheritance in Man . (English)
  3. ↑ DT Purtilo, C. Cassel, JP Yang: Letter: Fatal infectious mononucleosis in familial lymphohistiocytosis . In: The New England Journal of Medicine . tape 291 , no. 14 , October 3, 1974, p. 736 , PMID 4852784 .
  4. ↑ a b XLP2.  In: Online Mendelian Inheritance in Man . (English)
  5. ↑ X-linked lymphoproliferative syndrome. In: Orphanet (Rare Disease Database).