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Diseases

Genetic and Rare Diseases Information Center (GARD)

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X-linked agammaglobulinemia


Other Names for this Disease

  • Agammaglobulinemia, Bruton tyrosine kinase
  • Agammaglobulinemia, BTK
  • Bruton type agammaglobulinemia
  • Bruton's agammaglobulinemia
  • BTK-deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

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What are the signs and symptoms of X-linked agammaglobulinemia?

Affected infants are usually healthy for the first few months of life until they begin to develop recurrent bacterial infections. The most common bacterial infections are ear infections, pneumonia, pink eye, sinus infections, and infections that cause chronic diarrhea. These bacterial infections can be severe and life-threatening. Most affected individuals are not vulnerable to infections caused by viruses. Infections can usually be prevented with proper treatment.[1]
Last updated: 4/20/2011

The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked agammaglobulinemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Abnormality of temperature regulation 90%
Abnormality of the tonsils 90%
Diarrhea 90%
Hypogammaglobulinemia 90%
Inflammatory abnormality of the eye 90%
Otitis media 90%
Recurrent cutaneous abscess formation 90%
Recurrent respiratory infections 90%
Short stature 90%
Sinusitis 90%
Skin rash 90%
Skin ulcer 90%
Abnormality of neutrophils 50%
Arthritis 50%
Cellulitis 50%
Meningitis 50%
Sepsis 50%
Abnormality of the liver 7.5%
Alopecia 7.5%
Anemia 7.5%
Autoimmunity 7.5%
Hypopigmented skin patches 7.5%
Malabsorption 7.5%
Osteomyelitis 7.5%
Thrombocytopenia 7.5%
Weight loss 7.5%
Agammaglobulinemia -
Conjunctivitis -
Cor pulmonale -
Delayed speech and language development -
Diarrhea -
Encephalitis -
Enteroviral dermatomyositis syndrome -
Enteroviral hepatitis -
Epididymitis -
Hearing impairment -
Lymph node hypoplasia -
Meningitis -
Neoplasm -
Otitis media -
Pneumonia -
Prostatitis -
Pyoderma -
Recurrent urinary tract infections -
Septic arthritis -
Sinusitis -
X-linked recessive inheritance -

Last updated: 9/2/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. X-linked agammaglobulinemia. Genetics Home Reference. September 2008; http://ghr.nlm.nih.gov/condition/x-linked-agammaglobulinemia. Accessed 4/20/2011.


Other Names for this Disease
  • Agammaglobulinemia, Bruton tyrosine kinase
  • Agammaglobulinemia, BTK
  • Bruton type agammaglobulinemia
  • Bruton's agammaglobulinemia
  • BTK-deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.