Leukocyte adhesion defect

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Classification according to ICD-10
D84.8 Other specified immunodeficiencies
ICD-10 online (WHO version 2019)

The leukocyte adhesion defect (LAD) is a very rare congenital disease with the main features of primary immunodeficiency with impaired adhesion of the leukocytes ( leukodiapedesis ), leukocytosis and recurrent infectious diseases .

Synonyms : leukocyte adhesion deficiency; Leukocyte Adhesion Deficiency Syndrome (LADS)

distribution

The frequency is unknown; around 350 people have been reported to be affected. Inheritance is autosomal - recessive .

root cause

As part of an inflammatory process, leukocytes migrate to the site of the infection (leukodiapedesis), which requires these cells to adhere to the endothelium . Depending on the underlying defect in the cascade of leukocyte adhesion , the following diseases can be distinguished:

  • LAD-I with life-threatening, recurrent infections due to mutations in ITGB2 - gene on chromosome 21 locus q22.3 that for the β 2 integrin- encoding CD18.
  • LAD-II with leukocytosis, recurrent infections, delayed growth and intellectual deficit, mutations in the SLC35C1 gene on chromosome 11 locus p11.2, whichcodesfor the guanosine 5'-diphosphate (GDP) - fucose transporter.
  • LAD-III (also called LAD-I variant) with severe bacterial infections and a tendency to bleed due to mutations in the FERMT3 gene on chromosome 11 locus q13.1, which codes for kindlin-3 hematopoietic cells.

Clinical manifestations

Clinical criteria are:

  • Disease onset in infancy or early childhood
  • unexplained leukocytosis
  • Susceptibility to infection

Differential diagnosis

The following are to be distinguished:

treatment

The main point is to control infections with antibiotics. A stem cell transplant can greatly improve survival rates .

In veterinary medicine

The clinical picture is also known in veterinary medicine as bovine leukocyte adhesion deficiency (BLAD).

literature

  • S. Teimourian, M. De Boer, D. Roos, A. Isaian, E. Moghanloo, S. Lashkary, B. Hassani, H. Mollanoori, V. Babaei, A. Azarnezhad: Mutation characterization and heterodimer analysis of patients with leukocyte adhesion deficiency: including one novel mutation. In: Immunology letters. Volume 187, 07 2017, pp. 7-13, doi: 10.1016 / j.imlet.2017.04.012 , PMID 28445705 .
  • ES Harris, AS Weyrich, GA Zimmerman: Lessons from rare maladies: leukocyte adhesion deficiency syndromes. In: Current opinion in hematology. Volume 20, No. 1, January 2013, pp. 16-25, doi: 10.1097 / MOH.0b013e32835a0091 , PMID 23207660 , PMC 3564641 (free full text) (review).

Web links

Individual evidence

  1. ↑ a b c d e f leukocyte adhesion defect. In: Orphanet (Rare Disease Database).
  2. ↑ Encyclopedia Dermatology
  3. ^ Leukocyte adhesion deficiency Type I.  In: Online Mendelian Inheritance in Man . (English)
  4. ↑ Leukocyte adhesion deficiency Type IIc.  In: Online Mendelian Inheritance in Man . (English)
  5. ↑ Leukocyte adhesion deficiency Type III.  In: Online Mendelian Inheritance in Man . (English)
  6. ↑ Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency. In: Orphanet (Rare Disease Database).
  7. ↑ Y. Horikoshi, K. Umeda, K. Imai, H. Yabe, Y. Sasahara, K. Watanabe, Y. Ozawa, Y. Hashii, H. Kurosawa, S. Nonoyama, T. Morio: Allogeneic Hematopoietic Stem Cell Transplantation for Leukocyte Adhesion Deficiency. In: Journal of pediatric hematology / oncology. Volume 40, No. 2, March 2018, pp. 137-140, doi: 10.1097 / MPH.0000000000001028 , PMID 29324573 .
  8. ↑ Why farm animal breeds are disappearing . taz.de, April 21, 2008; Retrieved May 30, 2009.
  9. ↑ RR Alyethodi, U. Singh, S. Kumar, R. Deb, R. Alex, S. Sharma, GS Sengar, B. Prakash: Development of a fast and economical genotyping protocol for bovine leukocyte adhesion deficiency (BLAD) in cattle. In: SpringerPlus. Volume 5, No. 1, 2016, p. 1442, doi: 10.1186 / s40064-016-3148-7 , PMID 27652018 , PMC 5005226 (free full text).