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Immunodeficiency due to MASP-2 deficiency(LCAPD2)

MedGen UID:
462435
Concept ID:
C3151085
Disease or Syndrome
Synonyms: LECTIN COMPLEMENT ACTIVATION PATHWAY, DEFECT IN, 2; MASP2 deficiency
 
Gene (location): MASP2 (1p36.22)
 
Monarch Initiative: MONDO:0013423
OMIM®: 613791
Orphanet: ORPHA331187

Definition

MASP2 deficiency, classically defined as MASP2 protein level of less than 100 ng/ml, occurs in about 4% of Caucasians and up to 18% of some African populations. Some MASP2-deficient individuals have increased risk of infection or autoimmune disease, but most are asymptomatic. MASP2 plays a role in activation of the lectin pathway of the complement system; deficiency may thus lead to defects in the complement system (summary by Thiel et al., 2007 and Sokolowska et al., 2015). For a discussion of genetic heterogeneity of lectin complement activation pathway defects, see LCAPD1 (614372). [from OMIM]

Clinical features

From HPO
Ulcerative colitis
MedGen UID:
3532
Concept ID:
C0009324
Disease or Syndrome
A chronic inflammatory bowel disease that includes characteristic ulcers, or open sores, in the colon. The main symptom of active disease is usually constant diarrhea mixed with blood, of gradual onset and intermittent periods of exacerbated symptoms contrasting with periods that are relatively symptom-free. In contrast to Crohn's disease this special form of colitis begins in the distal parts of the rectum, spreads continually upwards and affects only mucose and submucose tissue of the colon.
Recurrent pneumonia
MedGen UID:
195802
Concept ID:
C0694550
Disease or Syndrome
An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.
Systemic lupus erythematosus
MedGen UID:
6146
Concept ID:
C0024141
Disease or Syndrome
Systemic lupus erythematosus (SLE) is a complex autoimmune disease characterized by production of autoantibodies against nuclear, cytoplasmic, and cell surface molecules that transcend organ-specific boundaries. Tissue deposition of antibodies or immune complexes induces inflammation and subsequent injury of multiple organs and finally results in clinical manifestations of SLE, including glomerulonephritis, dermatitis, thrombosis, vasculitis, seizures, and arthritis. Evidence strongly suggests the involvement of genetic components in SLE susceptibility (summary by Oishi et al., 2008). Genetic Heterogeneity of Systemic Lupus Erythematosus An autosomal recessive form of systemic lupus erythematosus (SLEB16; 614420) is caused by mutation in the DNASE1L3 gene (602244) on chromosome 3p14.3. An X-linked dominant form of SLE (SLEB17; 301080) is caused by heterozygous mutation in the TLR7 gene (300365) on chromosome Xp22. See MAPPING and MOLECULAR GENETICS sections for a discussion of genetic heterogeneity of susceptibility to SLE.
Reduced circulating complement concentration
MedGen UID:
82898
Concept ID:
C0272242
Disease or Syndrome
An immunodeficiency defined by the absent or suboptimal functioning of one of the complement system proteins.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVImmunodeficiency due to MASP-2 deficiency
Follow this link to review classifications for Immunodeficiency due to MASP-2 deficiency in Orphanet.

Professional guidelines

PubMed

García-Laorden MI, Hernández-Brito E, Muñoz-Almagro C, Pavlovic-Nesic S, Rúa-Figueroa I, Briones ML, Rajas O, Borderías L, Payeras A, Lorente L, Freixinet J, Ferreres J, Obando I, González-Quevedo N, Rodríguez de Castro F, Solé-Violán J, Rodríguez-Gallego C
J Clin Immunol 2020 Jan;40(1):203-210. Epub 2019 Dec 11 doi: 10.1007/s10875-019-00714-4. PMID: 31828694Free PMC Article

Recent clinical studies

Etiology

García-Laorden MI, Hernández-Brito E, Muñoz-Almagro C, Pavlovic-Nesic S, Rúa-Figueroa I, Briones ML, Rajas O, Borderías L, Payeras A, Lorente L, Freixinet J, Ferreres J, Obando I, González-Quevedo N, Rodríguez de Castro F, Solé-Violán J, Rodríguez-Gallego C
J Clin Immunol 2020 Jan;40(1):203-210. Epub 2019 Dec 11 doi: 10.1007/s10875-019-00714-4. PMID: 31828694Free PMC Article
Pągowska-Klimek I, Świerzko AS, Michalski M, Moll M, Szala-Poździej A, Sokołowska A, Krajewski WR, Cedzyński M
Immunobiology 2016 Feb;221(2):175-81. Epub 2015 Sep 8 doi: 10.1016/j.imbio.2015.09.010. PMID: 26382056
Varga L, Széplaki G, Laki J, Kocsis A, Kristóf K, Gál P, Bajtay Z, Wieslander J, Daha MR, Garred P, Madsen HO, Füst G, Farkas H
Clin Exp Immunol 2008 Jul;153(1):68-74. Epub 2008 May 5 doi: 10.1111/j.1365-2249.2008.03671.x. PMID: 18460017Free PMC Article
Cedzynski M, Szemraj J, Swierzko AS, Bak-Romaniszyn L, Banasik M, Zeman K, Kilpatrick DC
Clin Exp Immunol 2004 May;136(2):304-11. doi: 10.1111/j.1365-2249.2004.02453.x. PMID: 15086395Free PMC Article
Turner MW
Immunobiology 1998 Aug;199(2):327-39. doi: 10.1016/S0171-2985(98)80037-5. PMID: 9777416

Therapy

Pągowska-Klimek I, Świerzko AS, Michalski M, Moll M, Szala-Poździej A, Sokołowska A, Krajewski WR, Cedzyński M
Immunobiology 2016 Feb;221(2):175-81. Epub 2015 Sep 8 doi: 10.1016/j.imbio.2015.09.010. PMID: 26382056
Hansen CB, Csuka D, Munthe-Fog L, Varga L, Farkas H, Hansen KM, Koch C, Skjødt K, Garred P, Skjoedt MO
J Immunol 2015 Oct 15;195(8):3596-604. Epub 2015 Sep 14 doi: 10.4049/jimmunol.1402838. PMID: 26371246

Clinical prediction guides

Skopelja-Gardner S, Colonna L, Hermanson P, Sun X, Tanaka L, Tai J, Nguyen Y, Snyder JM, Alpers CE, Hudkins KL, Salant DJ, Peng Y, Elkon KB
J Immunol 2020 May 15;204(10):2627-2640. Epub 2020 Apr 1 doi: 10.4049/jimmunol.1901473. PMID: 32238460Free PMC Article
Pągowska-Klimek I, Świerzko AS, Michalski M, Moll M, Szala-Poździej A, Sokołowska A, Krajewski WR, Cedzyński M
Immunobiology 2016 Feb;221(2):175-81. Epub 2015 Sep 8 doi: 10.1016/j.imbio.2015.09.010. PMID: 26382056
Hansen CB, Csuka D, Munthe-Fog L, Varga L, Farkas H, Hansen KM, Koch C, Skjødt K, Garred P, Skjoedt MO
J Immunol 2015 Oct 15;195(8):3596-604. Epub 2015 Sep 14 doi: 10.4049/jimmunol.1402838. PMID: 26371246
Varga L, Széplaki G, Laki J, Kocsis A, Kristóf K, Gál P, Bajtay Z, Wieslander J, Daha MR, Garred P, Madsen HO, Füst G, Farkas H
Clin Exp Immunol 2008 Jul;153(1):68-74. Epub 2008 May 5 doi: 10.1111/j.1365-2249.2008.03671.x. PMID: 18460017Free PMC Article
Turner MW
Immunobiology 1998 Aug;199(2):327-39. doi: 10.1016/S0171-2985(98)80037-5. PMID: 9777416

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