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Immunodeficiency due to ficolin3 deficiency(LCAPD3)

MedGen UID:
462576
Concept ID:
C3151226
Disease or Syndrome
Synonyms: FCN3 DEFICIENCY; FICOLIN 3 DEFICIENCY; Immunodeficiency due to ficolin 3 deficiency; LECTIN COMPLEMENT ACTIVATION PATHWAY, DEFECT IN, 3
 
Gene (location): FCN3 (1p36.11)
 
Monarch Initiative: MONDO:0013467
OMIM®: 613860
Orphanet: ORPHA331190

Definition

Individuals with ficolin-3 deficiency have highly variable manifestations and a variable age of symptom onset. Some patients may show increased susceptibility to infection in the perinatal or neonatal period, whereas others may show autoimmune features as adults. Ficolin-3, also known as H-ficolin, can activate the lectin pathway of the complement system; deficiency may thus lead to defects in the complement system (summary by Munthe-Fog et al., 2009 and Michalski et al., 2015). For a discussion of genetic heterogeneity of lectin complement activation pathway defects, see LCAPD1 (614372). [from OMIM]

Clinical features

From HPO
Verrucae
MedGen UID:
777120
Concept ID:
C3665596
Finding
Warts, benign growths on the skin or mucous membranes that cause cosmetic problems as well as pain and discomfort. Warts most often occur on the hands, feet, and genital areas.
Necrotizing enterocolitis
MedGen UID:
105440
Concept ID:
C0520459
Disease or Syndrome
Inflammation of the intestine leading to bacterial invasion causing cellular damage and death which causes necrosis of the colon and intestine.
Recurrent lower respiratory tract infections
MedGen UID:
756211
Concept ID:
C3163798
Disease or Syndrome
An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections.
Recurrent Staphylococcus aureus infections
MedGen UID:
392925
Concept ID:
C2673462
Finding
Increased susceptibility to Staphylococcus aureus infections, as manifested by recurrent episodes of Staphylococcus aureus infection.
Recurrent abscess formation
MedGen UID:
871205
Concept ID:
C4025684
Finding
An increased susceptibility to abscess formation, as manifested by a medical history of recurrent abscesses.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVImmunodeficiency due to ficolin3 deficiency
Follow this link to review classifications for Immunodeficiency due to ficolin3 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
Michalski M, Świerzko AS, Pągowska-Klimek I, Niemir ZI, Mazerant K, Domżalska-Popadiuk I, Moll M, Cedzyński M
Immunobiology 2015 Jun;220(6):711-3. Epub 2015 Jan 19 doi: 10.1016/j.imbio.2015.01.003. PMID: 25662573

Recent clinical studies

Etiology

Lindelöf L, Rantapää-Dahlqvist S, Lundtoft C, Sandling JK, Leonard D, Sayadi A, Rönnblom L, Enocsson H, Sjöwall C, Jönsen A, Bengtsson AA, Hong MG, Diaz-Gallo LM, Bianchi M, Kozyrev SV, Lindblad-Toh K; DISSECT consortium; ImmunoArray consortium, Nilsson Ekdahl K, Nilsson B, Gunnarsson I, Svenungsson E, Eriksson O
J Autoimmun 2024 Feb;143:103166. Epub 2024 Jan 13 doi: 10.1016/j.jaut.2023.103166. PMID: 38219652
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
Metzger ML, Michelfelder I, Goldacker S, Melkaoui K, Litzman J, Guzman D, Grimbacher B, Salzer U
Clin Exp Immunol 2015 Feb;179(2):256-64. doi: 10.1111/cei.12459. PMID: 25251245Free PMC Article

Diagnosis

Lindelöf L, Rantapää-Dahlqvist S, Lundtoft C, Sandling JK, Leonard D, Sayadi A, Rönnblom L, Enocsson H, Sjöwall C, Jönsen A, Bengtsson AA, Hong MG, Diaz-Gallo LM, Bianchi M, Kozyrev SV, Lindblad-Toh K; DISSECT consortium; ImmunoArray consortium, Nilsson Ekdahl K, Nilsson B, Gunnarsson I, Svenungsson E, Eriksson O
J Autoimmun 2024 Feb;143:103166. Epub 2024 Jan 13 doi: 10.1016/j.jaut.2023.103166. PMID: 38219652
Babaha F, Abolhassani H, Hamidi Esfahani Z, Yazdani R, Aghamohammadi A
Expert Rev Clin Immunol 2020 Jul;16(7):733-738. Epub 2020 Aug 11 doi: 10.1080/1744666X.2020.1792779. PMID: 32634042

Therapy

Metzger ML, Michelfelder I, Goldacker S, Melkaoui K, Litzman J, Guzman D, Grimbacher B, Salzer U
Clin Exp Immunol 2015 Feb;179(2):256-64. doi: 10.1111/cei.12459. PMID: 25251245Free PMC Article

Prognosis

Garred P, Honoré C, Ma YJ, Rørvig S, Cowland J, Borregaard N, Hummelshøj T
J Innate Immun 2010;2(1):3-16. Epub 2009 Sep 24 doi: 10.1159/000242419. PMID: 20375618

Clinical prediction guides

Metzger ML, Michelfelder I, Goldacker S, Melkaoui K, Litzman J, Guzman D, Grimbacher B, Salzer U
Clin Exp Immunol 2015 Feb;179(2):256-64. doi: 10.1111/cei.12459. PMID: 25251245Free PMC Article
Garred P, Honoré C, Ma YJ, Rørvig S, Cowland J, Borregaard N, Hummelshøj T
J Innate Immun 2010;2(1):3-16. Epub 2009 Sep 24 doi: 10.1159/000242419. PMID: 20375618

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