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Leukocyte adhesion deficiency type II(LAD2; RHS; CDGIIc; CDG2C)

MedGen UID:
96022
Concept ID:
C0398739
Disease or Syndrome
Synonyms: CDG 2C; CDG IIc; Congenital disorder of glycosylation type 2C; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc; Leukocyte adhesion deficiency type 2; Rambam Hasharon syndrome; SLC35C1-CDG (CDG-IIc)
SNOMED CT: LAD - Leukocyte adhesion deficiency type 2 (234583001); Leukocyte adhesion molecule deficiency - type 2 (234583001); Sialyl-Lewis X defect (234583001); Leukocyte adhesion deficiency - type 2 (234583001); Congenital disorder of glycosylation type IIc (234583001)
Modes of inheritance:
 
SLC35C1 (11p11.2)
 
Monarch Initiative: MONDO:0009953
OMIM®: 266265
Orphanet: ORPHA99843

Definition

Congenital disorder of glycosylation type IIc (CDG2C) is an autosomal recessive disorder characterized by moderate to severe psychomotor retardation, mild dysmorphism, and impaired neutrophil motility. It is a member of a group of disorders with a defect in the processing of protein-bound glycans. For a general overview of congenital disorders of glycosylation (CDGs), see CDG1A (212065) and CDG2A (212066). Frydman (1996) contended that the neutrophil defect in CDG2C, which has been referred to as 'leukocyte adhesion deficiency type II' (LAD2), is a manifestation of the disorder and that there are no cases of 'primary' LAD II. Etzioni and Harlan (1999) provided a comprehensive review of both leukocyte adhesion deficiency-1 (LAD1; 116920) and LAD2. While the functional neutrophil studies are similar in the 2 LADs, the clinical course is milder in LAD2. Furthermore, patients with LAD2 present other abnormal features, such as growth and mental retardation, which are related to the primary defect in fucose metabolism. Delayed separation of the umbilical cord occurs in LAD1. For a discussion of genetic heterogeneity of LAD, see 116920. [from OMIM]

Clinical features

From HPO

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Etzioni A, Sturla L, Antonellis A, Green ED, Gershoni-Baruch R, Berninsone PM, Hirschberg CB, Tonetti M
Am J Med Genet 2002 Jun 15;110(2):131-5. doi: 10.1002/ajmg.10423. PMID: 12116250

Recent clinical studies

Etiology

Tahata S, Raymond K, Quade M, Barnes S, Boyer S, League S, Kumanovics A, Abraham R, Jacob E, Menon P, Morava E
Am J Med Genet A 2022 Jul;188(7):2005-2018. Epub 2022 Mar 26 doi: 10.1002/ajmg.a.62737. PMID: 35338746
Cooper N, Li YT, Möller A, Schulz-Weidner N, Sachs UJ, Wagner F, Hackstein H, Wienzek-Lischka S, Grüneberg M, Wild MK, Bein G, Marquardt T
Clin Immunol 2020 Dec;221:108599. Epub 2020 Sep 28 doi: 10.1016/j.clim.2020.108599. PMID: 32992000
Cagdas D, Yilmaz M, Kandemir N, Tezcan I, Etzioni A, Sanal Ö
J Clin Immunol 2014 Nov;34(8):1009-14. Epub 2014 Sep 21 doi: 10.1007/s10875-014-0091-7. PMID: 25239688
Gazit Y, Mory A, Etzioni A, Frydman M, Scheuerman O, Gershoni-Baruch R, Garty BZ
J Clin Immunol 2010 Mar;30(2):308-13. Epub 2010 Jan 23 doi: 10.1007/s10875-009-9354-0. PMID: 20099014
Becker DJ, Lowe JB
Biochim Biophys Acta 1999 Oct 8;1455(2-3):193-204. doi: 10.1016/s0925-4439(99)00071-x. PMID: 10571012

Diagnosis

Skurska E, Szulc B, Kreczko K, Olczak M
Int J Biochem Cell Biol 2024 Aug;173:106602. Epub 2024 Jun 4 doi: 10.1016/j.biocel.2024.106602. PMID: 38843991
Cooper N, Li YT, Möller A, Schulz-Weidner N, Sachs UJ, Wagner F, Hackstein H, Wienzek-Lischka S, Grüneberg M, Wild MK, Bein G, Marquardt T
Clin Immunol 2020 Dec;221:108599. Epub 2020 Sep 28 doi: 10.1016/j.clim.2020.108599. PMID: 32992000
Schneider M, Al-Shareffi E, Haltiwanger RS
Glycobiology 2017 Jul 1;27(7):601-618. doi: 10.1093/glycob/cwx034. PMID: 28430973Free PMC Article
Gazit Y, Mory A, Etzioni A, Frydman M, Scheuerman O, Gershoni-Baruch R, Garty BZ
J Clin Immunol 2010 Mar;30(2):308-13. Epub 2010 Jan 23 doi: 10.1007/s10875-009-9354-0. PMID: 20099014
Durand G, Seta N
Clin Chem 2000 Jun;46(6 Pt 1):795-805. PMID: 10839767

Therapy

Cooper N, Li YT, Möller A, Schulz-Weidner N, Sachs UJ, Wagner F, Hackstein H, Wienzek-Lischka S, Grüneberg M, Wild MK, Bein G, Marquardt T
Clin Immunol 2020 Dec;221:108599. Epub 2020 Sep 28 doi: 10.1016/j.clim.2020.108599. PMID: 32992000
Lühn K, Marquardt T, Harms E, Vestweber D
Blood 2001 Jan 1;97(1):330-2. doi: 10.1182/blood.v97.1.330. PMID: 11133780
Marquardt T, Lühn K, Srikrishna G, Freeze HH, Harms E, Vestweber D
Blood 1999 Dec 15;94(12):3976-85. PMID: 10590041

Prognosis

Skurska E, Szulc B, Kreczko K, Olczak M
Int J Biochem Cell Biol 2024 Aug;173:106602. Epub 2024 Jun 4 doi: 10.1016/j.biocel.2024.106602. PMID: 38843991
Schneider M, Al-Shareffi E, Haltiwanger RS
Glycobiology 2017 Jul 1;27(7):601-618. doi: 10.1093/glycob/cwx034. PMID: 28430973Free PMC Article
Etzioni A, Gershoni-Baruch R, Pollack S, Shehadeh N
J Allergy Clin Immunol 1998 Aug;102(2):323-4. doi: 10.1016/s0091-6749(98)70104-6. PMID: 9723680

Clinical prediction guides

Skurska E, Szulc B, Kreczko K, Olczak M
Int J Biochem Cell Biol 2024 Aug;173:106602. Epub 2024 Jun 4 doi: 10.1016/j.biocel.2024.106602. PMID: 38843991
Sturla L, Rampal R, Haltiwanger RS, Fruscione F, Etzioni A, Tonetti M
J Biol Chem 2003 Jul 18;278(29):26727-33. Epub 2003 May 8 doi: 10.1074/jbc.M304068200. PMID: 12738772
Becker DJ, Lowe JB
Glycobiology 2003 Jul;13(7):41R-53R. Epub 2003 Mar 19 doi: 10.1093/glycob/cwg054. PMID: 12651883
Körner C, Linnebank M, Koch HG, Harms E, von Figura K, Marquardt T
J Leukoc Biol 1999 Jul;66(1):95-8. doi: 10.1002/jlb.66.1.95. PMID: 10410995
Kuijpers TW, Etzioni A, Pollack S, Pals ST
Int Immunol 1997 Apr;9(4):607-13. doi: 10.1093/intimm/9.4.607. PMID: 9138022

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