#X linked agammaglobulinemia skin#

These antibodies protect them from infections once they’re born. Babies normally get antibodies from their mother through the placenta during pregnancy. Immature B cells don’t make enough antibodies to protect the body from infection.

B cells are a type of immune cell that makes antibodies. This gene is needed to help B cells grow and mature. Early therapeutic measures and treatment compliance are major prognostic factors.Several gene changes (mutations) have been linked to hypogammaglobulinemia. Life expectancy may be reduced in some patients as a result of complications such as severe infections and chronic pulmonary damage. Most patients with XLA lead a normal life. Some immunologists advocate chronic prophylactic antibiotics and treatment of acute infections should be prolonged and at maximal doses of antibiotics. Therapy should be started as early as possible. This can be given intravenously (400-600 mg/kg every 3 to 4 weeks) or subcutaneously (100 mg/kg every week). There is no curative treatment for XLA but good disease control can be achieved through consistent gammaglobulin therapy. Genetic counseling should be provided to members of affected families. Nearly 50% of cases are familial, while the remainder are thought to be related to de novo mutations. XLA, as the name indicates, follows an X-linked pattern of inheritance.

Prenatal diagnosis is possible following identification of the disease-causing mutation in the family. Differential diagnosisĭifferential diagnoses include autosomal recessive or dominant agammaglobulinemia, common variable immunodeficiency (CVID), hyper IgM syndrome and severe combined immunodeficiency (SCID) (see these terms). Molecular genetic testing can also be used to establish or confirm the diagnosis. Suspicion can be confirmed with blood tests showing low serum Ig and markedly reduced B lymphocyte counts. A family history consistent with X-linked transmission also points to this diagnosis. Diagnostic methodsĪ diagnosis of XLA should be considered in patients with recurrent or persistent otitis media, pneumonia, sinusitis, and conjunctivitis starting before age five years or severe bacterial infections such as sepsis, meningitis, cellulitis, or empyema. XLA is caused by mutations in the BTK gene (Xq21.33-q22) involved in B lymphocyte differentiation and maturation. Complications of X-linked agammaglobulinemia (XLA) include progressive lung disease, chronic sinusitis, inflammatory bowel disease, arthritis, as well as neurological changes. Some patients have a less severe clinical presentation and are not recognized as immunodeficient until 10 years of age or later. Growth and development are usually normal. Affected patients are reported to have a higher susceptibility to severe and chronic enteroviral infections. Infections tend to persist throughout adulthood. Rare patients are reported to have vitiligo, erythematous rash, or alopecia totalis. Lymph nodes, tonsils, and other lymphoid tissues are unusually small or absent. Pyoderma or cellulitis (associated with neutropenia) and pseudomonas or staphylococcal sepsis are frequent presenting findings, particularly in patients less than 12 months of age. Other severe infections may include empyema, meningitis, sepsis, or septic arthritis.

#X linked agammaglobulinemia skin#

influenzae, within the first two years of life,: otitis media, conjunctivitis, sinusitis, respiratory infections, diarrhea and skin infections (impetigo, cellulitis, abscesses, and furuncles). The majority of patients develop recurrent or persistent bacterial infections, most commonly caused by S. Clinical descriptionĪffected individuals are usually healthy in the first few months of life due to residual maternal immunoglobulins. Only males are affected and females are asymptomatic carriers. The disorder has been reported in various ethnic groups worldwide.