MOLECULAR AND CLINICAL ASPECTS OF X-LINKED IMMUNODEFICIENCY WITH HYPER-IGM SYNDROME

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GHAEDI KAMRAN; ROGHANIAN RASOUL; MAHMOUDIAN ELHAM; KHALILNEZHAD AHAD

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Journal: GENETICS IN THE 3RD MILLENNIUM Year:2010 | Volume:8 | Issue:3 Page(s): 2084-2094

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Information Journal Paper

Title

MOLECULAR AND CLINICAL ASPECTS OF X-LINKED IMMUNODEFICIENCY WITH HYPER-IGM SYNDROME

Author(s)

GHAEDI KAMRAN | ROGHANIAN RASOUL | MAHMOUDIAN ELHAM | KHALILNEZHAD AHAD | Issue Writer Certificate

Keywords

HYPER-IGM IMMUNODEFICIENCY SYNDROMEQ3

TYPE1Q3

IMMUNOLOGIC DEFICIENCY SYNDROMESQ3

CD40 LIGANDQ3

Abstract

X-linked immunodeficiency with hyper-IgM (XHIGM or HIGM1) is a rare form of primary immunodeficiency disease caused by mutations in the gene that codes for CD40 LIGAND (CD40L, also known as gp39, TNFSF5 and CD154). CD40L is expressed on activated CD4+T cells and interacts with CD40 on the surface of B cells. This interaction induces B cells to undergo immunoglobulin (Ig) class-switching from IgM to IgG, IgA, and IgE. Patients with XHIGM exhibit profoundly depressed B-cell activation, fail to form germinal centers, have markedly reduced levels of IgG, IgA, and IgE but have normal or elevated levels of IgM. Because CD40L is required in the functional maturation of T lymphocytes and macrophages, patients with XHIGM also have a variable defect in T-lymphocyte and macrophage effector function. The range of clinical findings of XHIGM varies, even within the same family. Patients with XHIGM have increased susceptibility to infection with a wide variety of bacteria, viruses, fungi, and parasites. XHIGM usually presents in infancy with recurrent upper and lower respiratory tract bacterial infections, opportunistic infections, and recurrent or protracted diarrhea caused by Cryptosporidium parvum which is associated with failure to thrive. Neutropenia, thrombocytopenia, and anemia are common. Malignancies, Significant neurologic complications, oral ulcers, autoimmune and/or inflammatory disorders, such as sclerosing cholangitis, liver diseases including hepatitis, primary cirrhosis and carcinomas and tumors of the gastrointestinal tract have been reported.

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APA: Copy

GHAEDI, KAMRAN, ROGHANIAN, RASOUL, MAHMOUDIAN, ELHAM, & KHALILNEZHAD, AHAD. (2010). MOLECULAR AND CLINICAL ASPECTS OF X-LINKED IMMUNODEFICIENCY WITH HYPER-IGM SYNDROME. GENETICS IN THE 3RD MILLENNIUM, 8(3), 2084-2094. SID. https://sid.ir/paper/117220/en

Vancouver: Copy

GHAEDI KAMRAN, ROGHANIAN RASOUL, MAHMOUDIAN ELHAM, KHALILNEZHAD AHAD. MOLECULAR AND CLINICAL ASPECTS OF X-LINKED IMMUNODEFICIENCY WITH HYPER-IGM SYNDROME. GENETICS IN THE 3RD MILLENNIUM[Internet]. 2010;8(3):2084-2094. Available from: https://sid.ir/paper/117220/en

IEEE: Copy

KAMRAN GHAEDI, RASOUL ROGHANIAN, ELHAM MAHMOUDIAN, and AHAD KHALILNEZHAD, “MOLECULAR AND CLINICAL ASPECTS OF X-LINKED IMMUNODEFICIENCY WITH HYPER-IGM SYNDROME,” GENETICS IN THE 3RD MILLENNIUM, vol. 8, no. 3, pp. 2084–2094, 2010, [Online]. Available: https://sid.ir/paper/117220/en

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