X-linked hyper-IgM syndrome
A single strand conformation polymorphism study of CD40 ligand Efficient mutation analysis and carrier detection for X linked hyper IgM syndrome
... having X-linked hyper IgM syndrome, individual 4 wanted carrier de- ...closely linked allele at CD40 ...of X-linked hyper IgM ...
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Absence of IgD CD27(+) memory B cell population in X linked hyper IgM syndrome
... with X-linked hyper-IgM syndrome ...from IgM to IgG and IgA with Staphylococcus aureus Cowan strain (SAC) plus IL-2 or anti-CD40 mAb (anti-CD40) plus ...to IgM, but not ...
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Defects of T cell effector function and post thymic maturation in X linked hyper IgM syndrome
... Clinical features of the patients with XHIM. As shown in Table 1, five of the six patients with XHIM who were studied had histories of P. carinii infection, an oppor- tunistic infection not commonly associated with other ...
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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
... We investigated the inactivation of the defective X chromosome in these female carriers by immunofluorescence staining, to identify the fraction of in vitro activated T cells expressing [r] ...
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X-linked Hyper IgM (HIGM1) in an African kindred: the first report from South Africa
... Li X, Milatovich A, Non- oyama S, Bajorath J, Grosmaire LS, Stenkamp R, Neubauer M: The CD40 ligand gp39 is defective in activated T cells from patients with X-linked hyper IgM ...of ...
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Hyper IgM syndrome associated with defective CD40 mediated B cell activation
... The 17 patients suspected of having X-linked hyper IgM syndrome could be divided into two groups: cells from 13 patients failed to bind the CD40 construct CD40 ligand negative patients, [r] ...
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Hyper IgM syndrome presenting as chronic suppurative lung disease
... neurologic complications, such as cerebral toxoplasmo- sis [19,20] and cryptococcosis [21], are seen in 10-to- 15% of affected males. Disseminated cytomegalovirus infection may be observed as presenting sign [22]. ...
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Molecular pathology of the X-linked hyper-immunoglobulin M syndrome: detection of wild-type transcripts in a patient with a complex splicing defect of the CD40 ligand.
... ligand expression (data not shown). He is currently on a regimen of high-dose intravenous immunoglobulin which has resulted in a gradual decrease in serum IgM. Although initially growth retarded, he has achieved a ...
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Hyper IgM syndrome type 4 with a B lymphocyte–intrinsic selective deficiency in Ig class switch recombination
... this syndrome is ...An X-linked inheritance can be ruled out by the observed sex ...a syndrome, characterized in all tested patients by a CSR defect but by the normal generation of SHMs of the ...
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Spectrum of primary immunodeficiency disorders in Sri Lanka
... with x linked SCID was diagnosed in utero (20 weeks of pregnancy), and diagnosis confirmed at ...by X linked agam- maglobulinemia (XLA) ...with hyper IgM syndrome, 3 ...
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Genetic study of a new X linked recessive immunodeficiency syndrome
... Wiskott-Aldrich syndrome, XL chronic granulomatous disease, XL hyper-IgM syndrome with low IgG and IgA, and XL lymphoproliferative syndrome), and properdine ...
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Nonmyeloablative Hematopoietic Stem Cell Transplant for X-Linked Hyper-Immunoglobulin M Syndrome With Cholangiopathy
... serum IgM normalized, IgG is below the normal range but ⬃ 10-fold above the level at diagnosis, and IgA is undetectable; the patient mounted a protective antibody response to immunization with tetanus tox- oid ...
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Epstein-Barr Virus Can Establish Infection in the Absence of a Classical Memory B-Cell Population
... of X-linked hyper-immunoglobulin M (hyper-IgM) syndrome who, due to a mutation in CD40 ligand gene, do not have a classical, class-switched memory B-cell population (IgD ⴚ CD27 ⴙ ...
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Alpha thalassaemia-mental retardation, X linked
... Drooling is very common in ATR-X, particularly in young children. Many mothers will describe their sons soaking several bibs during the course of the day. The open mouth associated with facial hypotonia no doubt ...
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Case Report A novel OCRL1 mutation in a Chinese child with Lowe syndrome
... Lowe syndrome, genetic counseling, including female carrier detection and prenatal diagno- sis, is advisable to avoid ...Lowe syndrome and De novo mutation is in 32% of males affected with Lowe ...
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X-linked kallman's syndrome: a molecular genetic and developmental analysis
... A monoclonal antibody is a single pure antibody produced in quantity by a cultured clone of a special cell type called B lymphocyte. Each normal B lynq)hocyte is capable of producing a single antibody. Animals, usually ...
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Flow Cytometry, a Versatile Tool for Diagnosis and Monitoring of Primary Immunodeficiencies
... for X- linked (gp91phox) CGD, p47phox and p67phox CGD, which ac- counts for approximately 30% of autosomal recessive CGD ...atypical X-linked CGD in our laboratory ...to X-linked ...
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X-Linked Agammaglobulinemia Presenting with Secondary Hemophagocytic Syndrome: A Case Report
... studies. Bone marrow aspiration revealed hemophagocy- tosis. Serum immunoglobulin levels were extremely low (IgG: <33 mg/dL, IgM: 12.6 mg/dL, and IgA: <6.67 mg/dL). Reference values of serum immunoglobulin ...
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Development of an Enzyme-Linked Immunosorbent Assay-Based Test with a Cocktail of Nucleocapsid and Spike Proteins for Detection of Severe Acute Respiratory Syndrome-Associated Coronavirus-Specific Antibody
... ELISA measurement. Microtiter plates were coated with a mixture of the four recombinant polypeptides, diluted in phosphate-buffered saline (PBS) at a con- centration of 1 to 5 g/ml each (3 g/ml N1, 2 g/ml N2, 1 g/ml ...
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Neuroradiologic Features in X linked α Thalassemia/Mental Retardation Syndrome
... Types 2 and 3 suggest an abnormality of the white matter, or myelination. Type 2 includes white matter abnormalities, especially around the trigones, with increased signal intensity showing on T2WI/FLAIR in the ...
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