Successful treatment of echovirus meningoencephalitis and myositis-fasciitis with intravenous immune globulin therapy in a patient with X-linked agammaglobulinemia
He was also found to have Brutons agammaglobulinemia
, a rare genetic disorder which had made him susceptible to the polio that is in the oral vaccine.
Astrovirus encephalitis in boy with X linked agammaglobulinemia
Too little Btk causes a disease called Bruton's agammaglobulinemia
, in which the B-lymphocytes fail to mature and produce antibodies, leading to infections.
Mutations in the mu heavy-chain gene in patients with agammaglobulinemia
Seminal article with commentaries: agammaglobulinemia
The classical example is X-linked agammaglobulinemia
, in which disease-causing variants in the gene (BTK, Bruton agammaglobulinemia
tyrosine kinase) coding for Bruton's tyrosine kinase lead to arrest of B-cell development at the pre-B-cell stage (2).
A 16-year-old came in and said, 'My brother has X-linked agammaglobulinemia
Deficiency of the complement component, C3, leads to repeated sinopulmonary infections similar to agammaglobulinemia
, while deficiencies in the terminal complement components (C6, C7, C8, C9) result in recurrent systemic infections or meningitis with neisserial organisms.
One study demonstrated an HAstV-PS, which is distinct from the original HAstV and closely related to astrovirus HMO-C (AstV-HMO-C) and HAstV-VAl) (7,8) in the brain tissue of a 15-year-old boy with X-linked agammaglobulinemia
who had encephalitis.
Boyle founded IDF in 1980 when her son was diagnosed with X-Linked Agammaglobulinemia
, a primary immunodeficiency disease.
Radiosensitivity of ataxia-telangiectasia, X-linked agammaglobulinemia
, and related syndromes using a modified colony survival assay.
The following conditions/diseases may cause the immune system to be compromised and/or suppressed: Transplantation or Immunosuppressant patients, Chemotherapy/Cancer patients, Overwhelming infection, Poor nutrition, AIDS/HIV, Primary Immune Deficiency, Selective IgA Deficiency, Common Variable lmmunodeficiency, X-Linked Agammaglobulinemia
, Chronic Granulomatous Disease, Hyper-IgM Syndrome, Severe Combined Immunodeficiency Disease (SCID), and some newborns diabetes.
Low IgE levels have been reported in various forms of severe combined immunodeficiency, hyper-IgM syndrome, ataxia telangiectasia, X-linked recessive Bruton agammaglobulinemia
, common variable immunodeficiency, transient hypogammaglobulinemia of infancy, and isolated IgE deficiency whose clinical significance is unclear.
It has been suggested that placental blood should also be screened for rare immunodeficiency syndromes and mucopolysaccharidoses such as adenosine deaminase deficiency, Bruton's agammaglobulinemia
, X-linked agammaglobulinemia
, and Hunter's and Hurler's syndromes.