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Related Concept Videos

Sex-linked Disorders01:43

Sex-linked Disorders

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Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
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The ABO Blood Group01:12

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The ABO blood group system is a critical element of transfusion medicine, essential for determining blood compatibility in transfusions and organ transplants. It is based on specific antigens, or agglutinogens, present on the surface of red blood cells (RBCs) and corresponding antibodies, or agglutinins, in the blood plasma.
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Antigens are substances that can trigger an immune response, leading to the production of antibodies. In the ABO blood group system,...
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X-linked Traits01:19

X-linked Traits

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In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
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Lethal Alleles02:41

Lethal Alleles

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Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
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Humoral Immune Responses01:36

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Antibody Structure01:10

Antibody Structure

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Antibodies, also known as immunoglobulins (Ig), are essential players of the adaptive immune system. These antigen-binding proteins are produced by B cells and make up 20 percent of the total blood plasma by weight. In mammals, antibodies fall into five different classes, which each elicits a different biological response upon antigen binding.
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Immunoglobulin Gene Sequence Analysis In Chronic Lymphocytic Leukemia: From Patient Material To Sequence Interpretation
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Immunoglobulin Gene Sequence Analysis In Chronic Lymphocytic Leukemia: From Patient Material To Sequence Interpretation

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X-linked Agammaglobulinemia.

Deepti Suri1, Amit Rawat2, Surjit Singh2

  • 1Pediatric Allergy and Immunology Unit, Department of Pediatrics, Advanced Pediatrics Center, Postgraduate Institute of Medical Education and Research, Chandigarh, 160012, India. surideepti@gmail.com.

Indian Journal of Pediatrics
|February 25, 2016
PubMed
Summary
This summary is machine-generated.

X-linked agammaglobulinemia (XLA) is a primary immune deficiency common in children. Management involves immunoglobulin therapy, infection control, and prophylactic antibiotics, particularly in developing nations.

Keywords:
Antibody deficiencyBrutons diseaseHypogammaglobulinemiaImmunoglobulins

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Area of Science:

  • Pediatric Immunology
  • Primary Immunodeficiency Diseases

Background:

  • X-linked agammaglobulinemia (XLA) is a frequent primary immune deficiency in pediatric practice.
  • Common variable immunodeficiency (CVID) is the most prevalent PID in adults.
  • XLA is an X-linked disorder marked by susceptibility to encapsulated bacteria, hypergammaglobulinemia, and absent B cells.

Purpose of the Study:

  • To review the diverse clinical features of XLA.
  • To discuss the management strategies for XLA.
  • To emphasize XLA management in developing countries.

Main Methods:

  • Literature review of XLA and CVID.
  • Analysis of clinical manifestations and treatment protocols.
  • Focus on challenges in resource-limited settings.

Main Results:

  • XLA presents with recurrent bacterial infections due to B cell deficiency.
  • Replacement immunoglobulin therapy is the primary treatment.
  • Prophylactic antimicrobials and infection management are crucial.

Conclusions:

  • Effective management of XLA requires timely diagnosis and consistent treatment.
  • Addressing XLA in developing countries necessitates tailored strategies.
  • Further research on optimizing care in resource-limited settings is warranted.