Ouair Hind, Benhsaien Ibtihal, Jeddane Leila, El Bakkouri Jalila, Elhafidi Naima, Rada Noureddine, Najib Jilali, Ailal Fatima, Alj Hanane Salih, Bousfiha Ahmed Aziz
Laboratoire de Biologie et Santé, Unité de recherche Associée au CNRST-URAC 34, Faculté des Sciences Ben M'Sik, Université Hassan II Mohammedia, Casablanca, Maroc.
Laboratoire d'Immunologie Clinique, Inflammation et Allergie, Faculté de Médecine et Pharmacie, Université Hassan II, Casablanca, Maroc.
Pan Afr Med J. 2017 Apr 19;26:212. doi: 10.11604/pamj.2017.26.212.10081. eCollection 2017.
Hyper IgM syndrome is a well known genetic (primary) immunodeficiency disorder which was first described in 1961. It is caused by B lymphocyte deficiency characterized by normal or elevated serum IgM levels and low or zero levels of IgG, IgA, IgE resulting from isotype-switching deficiency. Clinical manifestations are dominated by recurrent infections, especially involving the digestive tube of the ENT sphere and the lungs. This syndrome is caused by B-cell immunoglobulin class switch deficiency and decreased capacity to induce proliferation of T lymphocytes. The net result of these deficiencies is reflected in increased susceptibility to Pneumocystis jiroveci, Cryptosporidium spp and other intracellular organisms as well as high rate of bacterial and viral infections. This study aimed to illustrate the importance of understanding the pathophysiological mechanisms associated with this increased susceptibility to infections in order to allow a better diagnosis and therapy in patients with Hyper IgM syndrome (HIM).
高IgM综合征是一种著名的遗传性(原发性)免疫缺陷疾病,于1961年首次被描述。它由B淋巴细胞缺陷引起,其特征是血清IgM水平正常或升高,而由于同种型转换缺陷导致IgG、IgA、IgE水平低或为零。临床表现以反复感染为主,尤其是涉及耳鼻喉领域的消化道和肺部。该综合征由B细胞免疫球蛋白类别转换缺陷和诱导T淋巴细胞增殖能力下降引起。这些缺陷的最终结果表现为对耶氏肺孢子菌、隐孢子虫属和其他细胞内生物体的易感性增加,以及细菌和病毒感染的高发生率。本研究旨在阐明了解与这种感染易感性增加相关的病理生理机制的重要性,以便对高IgM综合征(HIM)患者进行更好的诊断和治疗。