Agammaglobulinämie, x-chromosomal

Sakamoto M et al. (2001) Maternal germinal mosaicism of X-linked agammaglobulinemia.

Wood PM et al. (2001) A mutation in Bruton's tyrosine kinase as a cause of selective anti-polysaccharide antibody deficiency.

van der Meer JW et al. (1986) Campylobacter jejuni bacteraemia as a cause of recurrent fever in a patient with hypogammaglobulinaemia.

Cohen DI et al. () Expression of an X-linked gene family (XLR) in late-stage B cells and its alteration by the xid mutation.

Kornfeld SJ et al. (1995) X-linked agammaglobulinemia presenting as transient hypogammaglobulinemia of infancy.

Rawlings DJ et al. (1994) Bruton's tyrosine kinase is a key regulator in B-cell development.

Vetrie D et al. (1993) The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases.

Lopez Granados E et al. (2002) Clinical and molecular analysis of patients with defects in micro heavy chain gene.

JANEWAY CA et al. (1953) Agammaglobulinemia.

CRAIG JM et al. (1956) Collagen disease in patients with congenital agammaglobulinemia.

HITZIG WH et al. (1961) [Hereditary lymphoplasmocytic dysgenesis ("alymphocytosis with agammaglobulinemia")].

GITLIN D et al. (1963) THE THYMUS AND OTHER LYMPHOID TISSUES IN CONGENITAL AGAMMAGLOBULINEMIA. I. THYMIC ALYMPHOPLASIA AND LYMPHOCYTIC HYPOPLASIA AND THEIR RELATION TO INFECTION.

Kerstens PJ et al. (1992) Erysipelas-like skin lesions associated with Campylobacter jejuni septicemia in patients with hypogammaglobulinemia.

BRUTON OC et al. (1952) Agammaglobulinemia.

Schwaber J et al. (1992) Evidence for failure of V(D)J recombination in bone marrow pre-B cells from X-linked agammaglobulinemia.

Journet O et al. (1992) Carrier detection and prenatal diagnosis of X-linked agammaglobulinemia.

Ferrari S et al. (2007) Mutations of the Igbeta gene cause agammaglobulinemia in man.

Ament ME et al. (1973) Structure and function of the gastrointestinal tract in primary immunodeficiency syndromes. A study of 39 patients.

Garvie JM et al. (1961) Congenital Agammaglobulinaemia.

Kwan SP et al. (1990) Identification of a closely linked DNA marker, DXS178, to further refine the X-linked agammaglobulinemia locus.

Thorsteinsson L et al. (1990) The first Icelandic family with X-linked agammaglobulinaemia: studies of genetic markers and immune function.

Hendriks RW et al. (1989) Evidence for male X chromosomal mosaicism in X-linked agammaglobulinemia.

Guioli S et al. (1989) Close linkage of probe p212 (DXS178) to X-linked agammaglobulinemia.

Lederman HM et al. (1985) X-linked agammaglobulinemia: an analysis of 96 patients.

Edwards NL et al. (1978) Lymphocyte ecto-5'-nucleotidase deficiency in agammaglobulinemia.

Schwaber J et al. (1988) Premature termination of variable gene rearrangement in B lymphocytes from X-linked agammaglobulinemia.

Ott J et al. (1986) Heterogeneity in the map distance between X-linked agammaglobulinemia and a map of nine RFLP loci.

Fearon ER et al. (1987) Carrier detection in X-linked agammaglobulinemia by analysis of X-chromosome inactivation.

Mensink EJ et al. (1987) Genetic heterogeneity in X-linked agammaglobulinemia complicates carrier detection and prenatal diagnosis.

Malcolm S et al. (1987) Close linkage of random DNA fragments from Xq 21.3-22 to X-linked agammaglobulinaemia (XLA).

Schuurman RK et al. (1988) Early diagnosis in X-linked agammaglobulinaemia.

Kwan SP et al. (1986) Mapping of the X-linked agammaglobulinemia locus by use of restriction fragment-length polymorphism.

Schwaber J et al. (1988) B lymphocytes from X-linked agammaglobulinemia. Delayed expression of light chain and demonstration of Lyonization in carriers.

Schwaber J et al. (1988) Correction of the molecular defect in B lymphocytes from X-linked agammaglobulinemia by cell fusion.

Saulsbury FT et al. (1979) Pneumocystis carinii pneumonia as the presenting infection in congenital hypogammaglobulinemia.

Lau YL et al. (1988) Genetic prediction in X-linked agammaglobulinaemia.

McKinney RE et al. () Chronic enteroviral meningoencephalitis in agammaglobulinemic patients.

Pearl ER et al. (1978) B lymphocyte precursors in human bone marrow: an analysis of normal individuals and patients with antibody-deficiency states.

Conley ME et al. (1986) Expression of the gene defect in X-linked agammaglobulinemia.

Mensink EJ et al. (1986) Mapping of a gene for X-linked agammaglobulinemia and evidence for genetic heterogeneity.

Landreth KS et al. (1985) Pre-B cells in agammaglobulinemia: evidence for disease heterogeneity among affected boys.

Erlendsson K et al. (1985) Successful reversal of echovirus encephalitis in X-linked hypogammaglobulinemia by intraventricular administration of immunoglobulin.

Geha RS et al. (1973) Identification and characterization of subpopulations of lymphocytes in human peripheral blood after fractionation on discontinuous gradients of albumin. The cellular defect in X-linked agammaglobulinemia.

Seligmann M et al. (1968) A proposed classification of primary immunologic deficiencies.

Schwaber J et al. () Early pre-B cells from normal and X-linked agammaglobulinaemia produce C mu without an attached VH region.

Rosen FS et al. (1984) The primary immunodeficiencies (1).

Thompson LF et al. (1980) Ecto-5'-nucleotidase activity in lymphoblastoid cell lines derived from heterozygotes for congenital X-linked agammaglobulinemia.

Levitt D et al. (1984) Epstein-Barr virus-induced lymphoblastoid cell lines derived from the peripheral blood of patients with X-linked agammaglobulinemia can secrete IgM.

Mensink EJ et al. (1984) X-linked agammaglobulinemia and the red blood cell determinants Xg and 12E7 are not closely linked.

Mease PJ et al. (1981) Successful treatment of echovirus meningoencephalitis and myositis-fasciitis with intravenous immune globulin therapy in a patient with X-linked agammaglobulinemia.

Perryman LE et al. (1983) Animal model of human disease. Infantile X-linked agammaglobulinemia. Agammaglobulinemia in horses.

Melamed I et al. (1983) Campylobacter enteritis in normal and immunodeficient children.

Allen RC et al. (1994) Application of carrier testing to genetic counseling for X-linked agammaglobulinemia.

van der Meer JW et al. (1993) Colorectal cancer in patients with X-linked agammaglobulinaemia.

Rudge P et al. (1996) Encephalomyelitis in primary hypogammaglobulinaemia.

Ochs HD et al. (1996) X-linked agammaglobulinemia. A clinical and molecular analysis.