[…] clinical phenotype Triplosensitivity Score Required percent of overlap 60% Mode of Inheritance MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Sources Expert Review Green ClinGen Phenotypes 188400 neonatal hypocalcemia, which may present [panelapp.genomicsengland.co.uk]

The p.P126L and p.R99Q were present in Africans and Amerindians only, except for p.R99Q in one Caucasian. The MASP-2 levels were reduced in individuals with p.V377A present. [nature.com]

It is present in the concentration of 1.4-2.2 mg/L, but the levels are increased ten-fold in patients with renal failure. Large amounts are found in the urine of patients with proteinuria, in particular those suffering from Fanconi syndrome. [emedicine.medscape.com]

In the present study we compared MBL concentration and its ability to activate complement in C1-INH-deficient persons and a control group. [link.springer.com]

[…] be descendants of the Romans who in the 2nd century bce occupied ancient Macedonia and what is now northern and northeastern Greece and who by the 2nd century ce occupied Dacia, a Roman province located in Transylvania and the Carpathian Mountains of present-day [aleximreh.wordpress.com]

This book is a comprehensive yet manageable resource for physicians and nurses wishing to learn more about PID, as well as a useful tool for both doctors-in-training and specialists in clinical decision-making and treatment planning. [books.google.com]

Treatment focuses on the underlying disorder; for example, a diet high in medium-chain triglycerides may decrease loss of immunoglobulins (Igs) and lymphocytes from the GI tract and be remarkably beneficial. [merckmanuals.com]

Immunosuppressive treatment is now limited to 5 to 15 mg of prednisolone daily. Without this treatment, the patient's skin symptoms worsen. The patient's parents, brother, and his two children have no increased susceptibility to infections. [nejm.org]

Treatment Of the 19 C1-INH-deficient children described in this paper, 11 were not being treated because of lack of symptoms. [link.springer.com]

Relevant External Links for MASP2 Genetic Association Database (GAD) MASP2 Human Genome Epidemiology (HuGE) Navigator MASP2 Atlas of Genetics and Cytogenetics in Oncology and Haematology: MASP2 No data available for Genatlas for MASP2 Gene Novel MASP2 [genecards.org]

Article PubMed Google Scholar Gaweda J., Klos M. and Kruszewski J. (1999): Epidemiological status of HBV, HCV and CMV infections among blood donors - soldiers (in Polish). Lekarz Wojskowy, 75, 494–496. Google Scholar Gompels M. M., Lock R. [link.springer.com]

Although the book’s primary focus is on practical diagnosis and management, the pathophysiology of PID is also discussed. [books.google.com]

Because mammalian cells have higher sialic acid content than microbial cells, factor H prevents excessive complement activation in host cells but not in microbes. Factor H is the major regulator in the alternate pathway activation. [emedicine.medscape.com]

The CUB1 –epidermal growth factor domains are essential for the association of MAp19 and MASP-2 with mannan-binding lectin. 21,22 Analysis of the recombinant wild-type and mutated MASP-2 showed that the mutation prevents the formation of functional mannan-binding [nejm.org]