Hyper-IgM syndrome

Levy J et al. (1997) Clinical spectrum of X-linked hyper-IgM syndrome.

Brahmi Z et al. (1983) Immunologic studies of three family members with the immunodeficiency with hyper-IgM syndrome.

Levitt D et al. (1983) Hyper IgM immunodeficiency. A primary dysfunction of B lymphocyte isotype switching.

Hollenbaugh D et al. (1994) The random inactivation of the X chromosome carrying the defective gene responsible for X-linked hyper IgM syndrome (X-HIM) in female carriers of HIGM1.

Thomas C et al. (1995) Brief report: correction of X-linked hyper-IgM syndrome by allogeneic bone marrow transplantation.

Fuleihan R et al. (1993) Defective expression of the CD40 ligand in X chromosome-linked immunoglobulin deficiency with normal or elevated IgM.

Xu J et al. (1994) Mice deficient for the CD40 ligand.

None (1994) X inactivation and immunocompetence in female carriers of the X-linked hyper-IgM syndrome.

Hayward AR et al. (1997) Cholangiopathy and tumors of the pancreas, liver, and biliary tree in boys with X-linked immunodeficiency with hyper-IgM.

Kawabe T et al. (1994) The immune responses in CD40-deficient mice: impaired immunoglobulin class switching and germinal center formation.

Cunningham CK et al. (1999) Enteroviral meningoencephalitis as a complication of X-linked hyper IgM syndrome.

Hadzić N et al. (2000) Correction of the hyper-IgM syndrome after liver and bone marrow transplantation.

Gennery AR et al. (2000) T-cell-depleted bone marrow transplantation from unrelated donor for [correction of allogeneic sibling for] X-linked hyperimmunoglobulin M syndrome.

André P et al. (2002) CD40L stabilizes arterial thrombi by a beta3 integrin--dependent mechanism.

GLEICH GJ et al. (1965) DYSGAMMAGLOBULINEMIA IN THE PRESENCE OF PLASMA CELLS.

JAMIESON WM et al. (1962) A family with several cases of hypogammaglobulinaemia.

Aschermann Z et al. (2007) X-linked hyper-IgM syndrome associated with a rapid course of multifocal leukoencephalopathy.

Hasegawa S et al. (2014) Whole-exome sequence analysis of ataxia telangiectasia-like phenotype.

Cooper MD et al. (1974) Meeting report of the Second International Workshop on Primary Immunodeficiency Disease in Man held in St. Petersburg, Florida, February, 1973.

Castigli E et al. (1994) CD40-deficient mice generated by recombination-activating gene-2-deficient blastocyst complementation.

Ferrari S et al. (2001) Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM.

Kutukculer N et al. (2003) Disseminated cryptosporidium infection in an infant with hyper-IgM syndrome caused by CD40 deficiency.

Mazzolari E et al. (2007) First report of successful stem cell transplantation in a child with CD40 deficiency.

Kraakman ME et al. (1995) Identification of a CD40L gene mutation and genetic counselling in a family with immunodeficiency with hyperimmunoglobulinemia M.

Aruffo A et al. (1993) The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndrome.

Korthäuer U et al. (1993) Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM.

Allen RC et al. (1993) CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome.

Kroczek RA et al. (1994) Defective expression of CD40 ligand on T cells causes "X-linked immunodeficiency with hyper-IgM (HIGM1)".

Pilia G et al. (1994) Human CD40L gene maps between DXS144E and DXS300 in Xq26.

Padayachee M et al. (1993) Mapping of the X linked form of hyper IgM syndrome (HIGM1)

Lin Q et al. (1996) A single strand conformation polymorphism study of CD40 ligand. Efficient mutation analysis and carrier detection for X-linked hyper IgM syndrome.

Bossaller L et al. (2006) ICOS deficiency is associated with a severe reduction of CXCR5+CD4 germinal center Th cells.

Revy P et al. (1998) Normal CD40-mediated activation of monocytes and dendritic cells from patients with hyper-IgM syndrome due to a CD40 pathway defect in B cells.

Kutukculer N et al. (2003) Outcome of hematopoietic stem cell transplantation in hyper-IgM syndrome caused by CD40 deficiency.

Mayer L et al. (1986) Evidence for a defect in "switch" T cells in patients with immunodeficiency and hyperimmunoglobulinemia M.

Fudenberg HH et al. (1970) Classification of the primary immune deficiencies: WHO recommendation.

OMIM.ORG article

Orphanet article

Wikipedia article