[…] 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]

• Recurrent Infection

  Sometimes recurrent sinopulmonary or GI infections, candidiasis, meningitis X-linked agammaglobulinemia X-linked BTK Recurrent sinopulmonary and skin infections during infancy, transient neutropenia, lymphoid hypoplasia Persistent CNS infections resulting [merckmanuals.com]

  […] due to factor D deficiency Recurrent infection due to specific granule deficiency Recurrent infections associated with rare immunoglobulin isotypes deficiency Relapsing polychondritis Reticular dysgenesis Rheumatoid factor-negative juvenile idiopathic [se-atlas.de]

  Recurrent bacterial infection is common in patients with C2 deficiency. Atherosclerosis also appears to occur at a higher frequency in individuals with C2 deficiency. [emedicine.medscape.com]

  C. (2004): Mannan-binding lectin (MBL) insufficiency in children with recurrent infections of the respiratory system. Clin. Exp. Immunol., 136 304–311. Article PubMed Google Scholar Chen C. [link.springer.com]

  Mannan-binding lectin insufficiency in children with recurrent infections of the respiratory system. Clin Exp Immunol 2004; 136 : 304–311. 27. Olesen HV, Jensenius JC, Steffensen R, Thiel S, Schiøtz PO. [nature.com]

• Recurrent Bacterial Infection

  Recurrent bacterial infection is common in patients with C2 deficiency. Atherosclerosis also appears to occur at a higher frequency in individuals with C2 deficiency. [emedicine.medscape.com]

• Diarrhea

  recurrent respiratory infections, cancer (in 10% of patients > 10 yr), varicella-zoster virus infection, herpesvirus infection *Omenn syndrome is an autosomal recessive form of severe SCID causing erythroderma, desquamation, alopecia, chronic diarrhea [merckmanuals.com]

  Factor H deficiency is also associated with atypical (diarrhea-negative) hemolytic-uremic syndrome (HUS) and glomerulonephritis. C3 deficiency is associated with membranoproliferative glomerulonephritis. [emedicine.medscape.com]

• Chronic Diarrhea

  recurrent respiratory infections, cancer (in 10% of patients > 10 yr), varicella-zoster virus infection, herpesvirus infection *Omenn syndrome is an autosomal recessive form of severe SCID causing erythroderma, desquamation, alopecia, chronic diarrhea [merckmanuals.com]

• Hypogammaglobulinemia

  + severe combined immunodeficiency due to gamma chain deficiency T-B- severe combined immunodeficiency T-cell immunodeficiency with epidermodysplasia verruciformis T-cell large granular lymphocyte leukemia Takayasu arteritis Thymic aplasia Transient hypogammaglobulinemia [se-atlas.de]

  TACI Most often asymptomatic Recurrent sinopulmonary infections, diarrhea, allergies (including anaphylactic transfusion reactions [rare]), autoimmune disorders (eg, celiac disease, inflammatory bowel disease, SLE, chronic active hepatitis) Transient hypogammaglobulinemia [merckmanuals.com]

• Neutrophilia

  Granulomatosis with polyangiitis Granulomatous autoinflammatory syndrome of childhood Griscelli disease type 2 Hemophagocytic syndrome Hemophagocytic syndrome associated with an infection Hepatic veno-occlusive disease-immunodeficiency syndrome Hereditary neutrophilia [se-atlas.de]

• Neisseria Gonorrhoeae

  Terminal pathway (C5-C9): The lack of MAC formation results in severe recurrent infection by Neisseria gonorrhoeae or Neisseria meningitidis. C1INH: Primary and secondary deficiency of C1INH leads to uninhibited cleavage of C4 by C1s. [emedicine.medscape.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]