Question: What is (are) X-linked agammaglobulinemia ?
Answer: X-linked agammaglobulinema is a primary immunodeficiency characterized by very low levels of immunoglobulins (proteins made by the immune system to help fight infections). People affected by this condition generally begin developing frequent and recurrent bacterial infections from about 6 months of age. Commonly diagnosed infections include lung infections (pneumonia and bronchitis), middle ear infections, conjunctivitis, sinus infections, various skin infections, and infections that are associated with chronic diarrhea. X-linked agammaglobulinemia is caused by changes (mutations) in the BTK gene and is inherited in an X-linked recessive manner. Treatment aims to boost the immune system, which may be accomplished by administering immunoglobulins through a vein (IVIG) or subcutaneously (SCIG). Frequent infections are generally treated with antibiotics.
Source: GARD

Question: What are the symptoms of X-linked agammaglobulinemia ?
Answer: 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. 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% Decreased antibody level in blood 90% Diarrhea 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 - Encephalitis - Enteroviral dermatomyositis syndrome - Enteroviral hepatitis - Epididymitis - Hearing impairment - Lymph node hypoplasia - Neoplasm - Pneumonia - Prostatitis - Pyoderma - Recurrent urinary tract infections - Septic arthritis - X-linked recessive inheritance - 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.
Source: GARD

Question: What are the treatments for X-linked agammaglobulinemia ?
Answer: How might X-linked agammaglobulinemia be treated? Managing X-linked agammaglobulinemia (XLA) mainly consists of preventing infections and treating infections aggressively when they do occur. Sudden infections in individuals with XLA are usually treated with antibiotics that are taken for at least twice as long as taken in healthy individuals. Preventing bacterial infections is very important for people with XLA. Gammaglobulin (a type of protein in the blood that contains antibodies to prevent or fight infections) is the main treatment for people with XLA. In the past, most people received this by intravenous (IV) infusion every two to four weeks. However, in the last few years, an increasing number of people have been receiving it by weekly subcutaneous injections. The choice of whether to receive it intravenously or by injection may just depend on what is most convenient for the doctor and/or patient. Sometimes, people with XLA have a reaction to gammaglobulin, which may include headaches, chills, backache, or nausea. These reactions are more likely to occur when they have a viral infection or when the brand of gammaglobulin has been changed. Some centers use chronic prophylactic antibiotics (continuous use of antibiotics) to prevent bacterial infections. Aggressive use of antibiotics lower the chance of chronic sinusitis and lung disease, which are common complications in individuals with XLA. Early diagnosis and treatment of bowel infections may decrease the risk of inflammatory bowel disease (IBD). Furthermore, children with XLA should not be given live viral vaccines. For example, they should be given inactivated polio vaccine (IPV) rather than the oral polio vaccine. The siblings of children with XLA should also be given inactivated polio vaccine (IPV) rather than oral polio vaccine in order to avoid infecting their affected sibling with live virus.
Source: GARD