Update on the hyper immunoglobulin M syndromes

Abstract

Summary The Hyper‐immunoglobulin M syndromes (HIGM) are a heterogeneous group of genetic disorders resulting in defects of immunoglobulin class switch recombination (CSR), with or without defects of somatic hypermutation (SHM). They can be classified as defects of signalling through CD40 causing both a humoral immunodeficiency and a susceptibility to opportunistic infections, or intrinsic defects in B cells of the mechanism of CSR resulting in a pure humoral immunodeficiency. A HIGM picture can also be seen as part of generalized defects of DNA repair and in antibody deficiency syndromes, such as common variable immunodeficiency. CD40 signalling defects may require corrective therapy with bone marrow transplantation. Gene therapy, a potential curative approach in the future, currently remains a distant prospect. Those with a defective CSR mechanism generally do well on immunologoblulin replacement therapy. Complications may include autoimmunity, lymphoid hyperplasia and, in some cases, a predisposition to lymphoid malignancy.

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    Not in our library10.1073/pnas.0700815104

79. 79.

    Seyama K, Nonoyama S, Gangsaas I, Hollenbaugh D, Pabst HF, Aruffo A, Ochs HD. Mutations of the CD40 ligand gene and its effect on CD40 ligand expression in patients with X-linked hyper IgM syndrome. Blood. 1998a;92:2421-2434.

    Not in our library

80. 80.

    Seyama K, Kobayashi R, Hasle H, Apter AJ, Rutledge JC, Rosen D, Ochs HD. Parvovirus B19-induced anemia as the presenting manifestation of X-linked hyper-IgM syndrome. The Journal of Infectious Diseases. 1998b;178:318-324.

    Not in our library10.1086/515633

81. 81.

    Shah I. Hyper IgM syndrome with tuberculous osteomyelitis and scrofuloderma. Indian Pediatrics. 2005;42:952-953.

    Not in our library

82. 82.

    Simon G, Simon G, Erdos M, Marodi L. Invasive Cryptococcus laurentii disease in a nine-year-old boy with X-linked hyper-immunoglobulin M syndrome. The Pediatric Infectious Disease Journal. 2005;24:935-937.

    Not in our library10.1097/01.inf.0000180979.47410.45

83. 83.

    Solanilla A, Dechanet J, El AA, Dupouy M, Godard F, Chabrol J, Charbord P, Reiffers J, Nurden AT, Weksler B, Moreau JF, Ripoche J. CD40-ligand stimulates myelopoiesis by regulating flt3-ligand and thrombopoietin production in bone marrow stromal cells. Blood. 2000;95:3758-3764.

    Not in our library

84. 84.

    Soresina A, Meini A, Lougaris V, Cattaneo G, Pellegrino S, Piane M, Darra F, Plebani A. Different clinical and immunological presentation of ataxia-telangiectasia within the same family. Neuropediatrics. 2008;39:43-45.

    Not in our library10.1055/s-2008-1076736

85. 85.

    Staples ER, McDermott EM, Reiman A, Byrd PJ, Ritchie S, Taylor AM, Davies EG. Immunodeficiency in ataxia telangiectasia is correlated strongly with the presence of two null mutations in the ataxia telangiectasia mutated gene. Clinical and Experimental Immunology. 2008;153:214-220.

    Not in our library10.1111/j.1365-2249.2008.03684.x

86. 86.

    Stavnezer J, Guikema JE, Schrader CE. Mechanism and regulation of class switch recombination. Annual Review of Immunology. 2008;26:261-292.

    Not in our library10.1146/annurev.immunol.26.021607.090248

87. 87.

    Subauste CS, Wessendarp M, Sorensen RU, Leiva LE. CD40-CD40 ligand interaction is central to cell-mediated immunity against Toxoplasma gondii: patients with hyper IgM syndrome have a defective type 1 immune response that can be restored by soluble CD40 ligand trimer. Journal of Immunology. 1999;162:6690-6700.

    Not in our library

88. 88.

    Ta VT, Nagaoka H, Catalan N, Durandy A, Fischer A, Imai K, Nonoyama S, Tashiro J, Ikegawa M, Ito S, Kinoshita K, Muramatsu M, Honjo T. AID mutant analyses indicate requirement for class-switch-specific cofactors. Nature Immunology. 2003;4:843-848.

    Not in our library10.1038/ni964

89. 89.

    Taalman RD, Hustinx TW, Weemaes CM, Seemanova E, Schmidt A, Passarge E, Scheres JM. Further delineation of the Nijmegen breakage syndrome. American Journal of Medical Genetics. 1989;32:425-431.

    Not in our library10.1002/ajmg.1320320332

90. 90.

    Tahara N, Kai H, Niiyama H, Mori T, Sugi Y, Takayama N, Yasukawa H, Numaguchi Y, Matsui H, Okumura K, Imaizumi T. Repeated gene transfer of naked prostacyclin synthase plasmid into skeletal muscles attenuates monocrotaline-induced pulmonary hypertension and prolongs survival in rats. Human Gene Therapy. 2004;15:1270-1278.

    Not in our library10.1089/hum.2004.15.1270

91. 91.

    Taylor AM, Groom A, Byrd PJ. Ataxia-telangiectasia-like disorder (ATLD)-its clinical presentation and molecular basis. DNA Repair (Amst). 2004;3:1219-1225.

    Not in our library10.1016/j.dnarep.2004.04.009

92. 92.

    Tono C, Takahashi Y, Terui K, Sasaki S, Kamio T, Tandai S, Sato T, Kudo K, Toki T, Tachibana N, Yoshioka T, Nakahata T, Morio T, Nishikomori R, Ito E. Correction of immunodeficiency associated with NEMO mutation by umbilical cord blood transplantation using a reduced-intensity conditioning regimen. Bone Marrow Transplantation. 2007;39:801-804.

    Not in our library10.1038/sj.bmt.1705658

93. 93.

    de Villartay JP. V(D)J recombination deficiencies. Advances in Experimental Medicine and Biology. 2009;650:46-58.

    Not in our library10.1007/978-1-4419-0296-2_4

94. 94.

    Vinuesa CG, Tangye SG, Moser B, Mackay CR. Follicular B helper T cells in antibody responses and autoimmunity. Nature Reviews. Immunology. 2005;5:853-865.

    Not in our library10.1038/nri1714

95. 95.

    Warnatz K, Salzer U, Rizzi M, Fischer B, Gutenberger S, Bohm J, Kienzler AK, Pan-Hammarstrom Q, Hammarstrom L, Rakhmanov M, Schlesier M, Grimbacher B, Peter HH, Eibel H. B-cell activating factor receptor deficiency is associated with an adult-onset antibody deficiency syndrome in humans. Proceedings of the National Academy of Sciences of the United States of America. 2009;137:81-85.

    Not in our library10.1073/pnas.0903543106

96. 96.

    Weigel HM, de VE, Regez RM, Henrichs JH, Ten Velden JJ, Frissen PH, van der Meer JT. Cotrimoxazole is effective as primary prophylaxis for toxoplasmic encephalitis in HIV-infected patients: a case control study. Scandinavian Journal of Infectious Diseases. 1997;29:499-502.

    Not in our library10.3109/00365549709011862

97. 97.

    Winkelstein JA, Marino MC, Ochs H, Fuleihan R, Scholl PR, Geha R, Stiehm ER, Conley ME. The X-linked hyper-IgM syndrome: clinical and immunologic features of 79 patients. Medicine (Baltimore). 2003;82:373-384.

    Not in our library10.1097/01.md.0000100046.06009.b0

98. 98.

    Wood P, Stanworth S, Burton J, Jones A, Peckham DG, Green T, Hyde C, Chapel H. Recognition, clinical diagnosis and management of patients with primary antibody deficiencies: a systematic review. Clinical and Experimental Immunology. 2007;149:410-423.

    Not in our library10.1111/j.1365-2249.2007.03432.x

99. 99.

    Yong PF, Post FA, Gilmour KC, Grosse-Kreul D, King A, Easterbrook P, Ibrahim MA. Cerebral toxoplasmosis in a middle-aged man as first presentation of primary immunodeficiency due to a hypomorphic mutation in the CD40 ligand gene. Journal of Clinical Pathology. 2008a;61:1220-1222.

    Not in our library10.1136/jcp.2008.058362

100. 100.

     Yong PF, Tarzi M, Chua I, Grimbacher B, Chee R. Common variable immunodeficiency: an update on etiology and management. Immunology and Allergy Clinics of North America. 2008b;28:367-386.

     Not in our library10.1016/j.iac.2008.01.001

101. 101.

     Zhu Y, Nonoyama S, Morio T, Muramatsu M, Honjo T, Mizutani S. Type two hyper-IgM syndrome caused by mutation in activation-induced cytidine deaminase. Journal of Medical and Dental Sciences. 2003;50:41-46.

     Not in our library

102. 102.

     Zirkin HJ, Levy J, Katchko L. Small cell undifferentiated carcinoma of the colon associated with hepatocellular carcinoma in an immunodeficient patient. Human Pathology. 1996;27:992-996.

     Not in our library10.1016/s0046-8177(96)90232-4

103. 103.

     Zonana J, Elder ME, Schneider LC, Orlow SJ, Moss C, Golabi M, Shapira SK, Farndon PA, Wara DW, Emmal SA, Ferguson BM. A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO). American Journal of Human Genetics. 2000;67:1555-1562.

     Not in our library10.1086/316914

Reads

A person counts once a day per paper. We keep no cookie and no address: a reader is a hash that changes every day. Any month under five reads shows no number.