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Cromer blood group system(CROM)

MedGen UID:
450551
Concept ID:
C1292305
Body System
Synonyms: CROM; CROMER BLOOD GROUP SYSTEM, Inab PHENOTYPE
SNOMED CT: Cromer blood group system (115696009); ISBT collection CROM (115696009); ISBT collection 202 (115696009)
 
Gene (location): CD55 (1q32.2)
 
OMIM®: 613793

Clinical features

From HPO
Protein-losing enteropathy
MedGen UID:
19522
Concept ID:
C0033680
Disease or Syndrome
Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy (CHAPLE) is characterized by abdominal pain and diarrhea, primary intestinal lymphangiectasia, hypoproteinemic edema, and malabsorption. Some patients also exhibit bowel inflammation, recurrent infections associated with hypogammaglobulinemia, and/or angiopathic thromboembolic disease. Patient T lymphocytes show increased complement activation, causing surface deposition of complement and generating soluble C5a (Ozen et al., 2017).

Professional guidelines

PubMed

Bub CB
Immunohematology 2017 Dec;33(4):170-172. PMID: 29378150

Supplemental Content

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