Factor I deficiency

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Factor I Deficiency

Factor I deficiency (== Template:IPA ==

The Template:IPA (International Phonetic Alphabet) is a system of phonetic notation based primarily on the Latin alphabet. It was devised by the International Phonetic Association in the late 19th century as a standardized representation of the sounds of spoken language.

Pronunciation

The pronunciation of the term "IPA" is /aɪ piː eɪ/ in English.

Etymology

The term "IPA" is an acronym for the International Phonetic Alphabet. The International Phonetic Association, founded in 1886, created the IPA to provide a single, universal system for the transcription of spoken language.

Related Terms

  • Phonetic notation: A system used to visually represent the sounds of speech. The IPA is one type of phonetic notation.
  • Phonetics: The study of the physical sounds of human speech. It is concerned with the physical properties of speech sounds (phonemes), and the processes of their physiological production, auditory reception, and neurophysiological perception.
  • Phonology: The study of the way sounds function within a particular language or languages. While phonetics concerns the physical production, acoustic transmission and perception of the sounds of speech, phonology describes the way sounds function within a particular language or languages.
  • Transcription (linguistics): The systematic representation of spoken language in written form. The source of the words transcribe and transcription, the term means "to write across" in Latin, and it's the process of converting spoken language into written form. In linguistics, this is often done using the IPA.

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Languages: - East Asian 中文, 日本, 한국어, South Asian हिन्दी, Urdu, বাংলা, తెలుగు, தமிழ், ಕನ್ನಡ,
Southeast Asian Indonesian, Vietnamese, Thai, မြန်မာဘာသာ, European español, Deutsch, français, русский, português do Brasil, Italian, polski), also known as C3b inactivator deficiency, is a rare genetic disorder that affects the immune system. The term originates from the Latin "deficientia" meaning "lacking", and "Factor I", a protein involved in the complement system of the immune response.

Definition

Factor I deficiency is a condition characterized by an abnormally low level or absence of the protein known as Factor I, or complement factor I. This protein plays a crucial role in the regulation of the complement system, a group of proteins that work together to destroy foreign invaders, promote inflammation, and perform other functions involved in immune defense.

Symptoms

The symptoms of Factor I deficiency can vary widely, but often include recurrent bacterial infections, particularly of the respiratory tract, and a type of kidney disease known as glomerulonephritis. Some individuals may also develop autoimmune disorders, in which the immune system mistakenly attacks the body's own tissues.

Causes

Factor I deficiency is caused by mutations in the CFI gene, which provides instructions for making the Factor I protein. These mutations can prevent the protein from being produced or cause it to be nonfunctional, leading to uncontrolled activation of the complement system and damage to the body's own cells.

Treatment

Treatment for Factor I deficiency typically involves managing the symptoms and preventing infections. This may include the use of antibiotics, immunoglobulin therapy, and in some cases, kidney transplantation.

See Also

External links

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