Type II 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 type II (LAD-II) is a very rare congenital disease belonging to the leukocyte adhesion defects with the main features recurrent bacterial infections, severe growth retardation, short stature and severe intellectual deficit.

The disease is one of the congenital glycosylation diseases (CDG), hence the name CDG IIc.

Synonyms are: congenital defect of glycoprotein biosynthesis type IIc; CDG syndrome type IIc; CDG IIc; CDG2C; Rambam-Hasharon Syndrome; SLC35C1-CDG

The first description comes from 1992 by the Israeli doctors Moshe Frydman, Amos Etzioni, Tal Eidlitz-Markus and colleagues.

The name refers to the place of residence of the first two people affected.

distribution

The frequency is given as less than 1 in 1,000,000, so far about 10 people have been reported. Inheritance is autosomal - recessive .

root cause

The disease are mutations in SLC35C1 - gene on chromosome 11 locus p11.2 basis that for guanosine 5'-diphosphate (GDP) - fucose transporter ( solute carrier family ) in the Golgi apparatus coded.

Clinical appearance

Clinical criteria are:

diagnosis

The diagnosis is based on the detection of neutrophilic leukocytosis and the Bombay phenotype and can be confirmed by molecular genetic methods.

A prenatal diagnosis is possible.

Differential diagnosis

The combination of recurrent infections, leukocytosis, the Bombay phenotype, short stature, severe intellectual deficit is pathognomonic.

literature

  • L. Sturla, R. Rampal, RS Haltiwanger, F. Fruscione, A. Etzioni, M. Tonetti: Differential terminal fucosylation of N-linked glycans versus protein O-fucosylation in leukocyte adhesion deficiency type II (CDG IIc). In: Journal of Biological Chemistry . Vol. 278, No. 29, July 2003, pp. 26727-26733, doi: 10.1074 / jbc.M304068200 , PMID 12738772 .
  • A. Etzioni, L. Sturla, A. Antonellis, ED Green, R. Gershoni-Baruch, PM Berninsone, CB Hirschberg, M. Tonetti: Leukocyte adhesion deficiency (LAD) type II / carbohydrate deficient glycoprotein (CDG) IIc founder effect and genotype / phenotype correlation. In: American journal of medical genetics. Vol. 110, No. 2, June 2002, pp. 131-135, doi: 10.1002 / ajmg.10423 , PMID 12116250 .
  • T. Lübke, T. Marquardt, A. Etzioni, E. Hartmann, K. von Figura, C. Körner: Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency. In: Nature genetics. Vol. 28, No. 1, May 2001, pp. 73-76, doi: 10.1038 / 88299 , PMID 11326280 .

Individual evidence

  1. ↑ a b c d e leukocyte adhesion defect type II. In: Orphanet (database for rare diseases).
  2. ^ M. Frydman, A. Etzioni, T. Eidlitz-Markus, I. Avidor, I. Varsano, Y. Shechter, JB Orlin, R. Gershoni-Baruch: Rambam-Hasharon syndrome of psychomotor retardation, short stature, defective neutrophil motility , and Bombay phenotype. In: American journal of medical genetics. Vol. 44, No. 3, October 1992, pp. 297-302, doi: 10.1002 / ajmg.1320440307 , PMID 1488976 .
  3. ↑ Leukocyte adhesion deficiency Type IIc.  In: Online Mendelian Inheritance in Man . (English)
  4. ↑ L. Sturla, L. Puglielli, M. Tonetti, P. Berninsone, CB Hirschberg, A. De Flora, A. Etzioni: Impairment of the Golgi GDP-L-fucose transport and unresponsiveness to fucose replacement therapy in LAD II patients. In: Pediatric research. Vol. 49, No. 4, April 2001, pp. 537-542, doi: 10.1203 / 00006450-200104000-00016 , PMID 11264438 .
  5. ↑ M. Frydman, D. Vardimon, E. Shalev, JB Orlin: Prenatal diagnosis of Rambam-Hasharon syndrome. In: Prenatal diagnosis. Vol. 16, No. 3, March 1996, pp. 266-269, doi : 10.1002 / (SICI) 1097-0223 (199603) 16: 3 <266 :: AID-PD845> 3.0.CO; 2- # , PMID 8710783 .

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