(D81) Combined immunodeficiencies

More details coming soon

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37 763 in individuals diagnosis combined immunodeficiencies confirmed
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2 729 deaths with diagnosis combined immunodeficiencies
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7% mortality rate associated with the disease combined immunodeficiencies

Diagnosis combined immunodeficiencies is diagnosed Men are 25.48% more likely than Women

23 693

Men receive the diagnosis combined immunodeficiencies

926 (3.9 %)

Died from this diagnosis.

100
95
90
85
80
75
70
65
60
55
50
45
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35
30
25
20
15
10
5
0
14 070

Women receive the diagnosis combined immunodeficiencies

1 803 (12.8 %)

Died from this diagnosis.

Risk Group for the Disease combined immunodeficiencies - Men aged 20-24 and Women aged 0-5

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In Men diagnosis is most often set at age 0-14, 20-89
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Less common in men the disease occurs at Age 15-19, 90-95+Less common in women the disease occurs at Age 55-59, 90-95+
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In Women diagnosis is most often set at age 0-54, 60-89

Disease Features combined immunodeficiencies

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Absence or low individual and public risk
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Combined immunodeficiencies - what does this mean

Combined immunodeficiencies (cids) are a group of rare and potentially life-threatening genetic disorders that occur when the body’s immune system is impaired due to a combination of genetic mutations that affect various components of the immune system, such as t cells, b cells, and natural killer cells. these mutations can lead to a weakened or absent immune response, resulting in increased susceptibility to infections and other health complications.

What happens during the disease - combined immunodeficiencies

Combined immunodeficiencies is a rare and complex disorder caused by a genetic mutation of one or more genes related to the immune system. this mutation results in the body's inability to produce enough of the cells and proteins needed to fight off infection, leading to recurrent bacterial, viral, and fungal infections. the exact cause of the mutation is unknown, however, it can be inherited or acquired.

Clinical Pattern

More details coming soon

How does a doctor diagnose

  • Complete Blood Count (CBC)
  • Serum Immunoglobulins (IgG, IgM, IgA)
  • T-cell Subsets (CD3, CD4, CD8)
  • Flow Cytometry
  • Chromosome Analysis
  • X-ray
  • CT Scan
  • MRI Scan
  • Lymph Node Biopsy
  • Skin Biopsy
  • Pulmonary Function Test
  • Genetic Testing

Treatment and Medical Assistance

Main goal of the treatment: Restore the patient's immune system.
  • Administering intravenous immunoglobulin (IVIG)
  • Bone marrow or stem cell transplantation
  • Gene therapy
  • Enzyme replacement therapy
  • Antibiotic therapy
  • Vaccinations to prevent infections
  • Nutritional supplementation
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19 Days of Hospitalization Required
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48 Hours Required for Outpatient Treatment

Combined immunodeficiencies - Prevention

Combined immunodeficiencies can be prevented by ensuring that infants and young children receive the recommended vaccinations, eating a healthy diet, avoiding contact with people who are sick, and washing hands regularly. additionally, it is important to know the family medical history and seek medical attention if any signs of a weakened immune system are present.

Specified forms of the disease

(D81.0) Severe combined immunodeficiency [SCID] with reticular dysgenesis
(D81.1) Severe combined immunodeficiency [SCID] with low T- and B-cell numbers
(D81.2) Severe combined immunodeficiency [SCID] with low or normal B-cell numbers
(D81.3) Adenosine deaminase [ADA] deficiency
(D81.4) Nezelof syndrome
(D81.5) Purine nucleoside phosphorylase [PNP] deficiency
(D81.6) Major histocompatibility complex class I deficiency
(D81.7) Major histocompatibility complex class II deficiency
(D81.8) Other combined immunodeficiencies
(D81.9) Combined immunodeficiency, unspecified