Kattra Aziza Bachir, Benhsaien Ibtihal, Drissi Bourhanbour Asmaa, Aadam Zahra, Errami Abderrahmane, Ailal Fatima, Bousfiha Ahmed Aziz, El Bakkouri Jalila
Laboratory of Clinical Immunology, Infection and Autoimmunity (LICIA), Faculty of Medicine and Pharmacy, Hassan II University of Casablanca, Casablanca, Morocco.
Department of Pediatric Infectious Diseases and Clinical Immunology, Abderrahim Harouchi Mother-Child Hospital, Ibn Rochd University Hospital, Casablanca, Morocco.
Case Reports Immunol. 2025 Jul 27;2025:8570051. doi: 10.1155/crii/8570051. eCollection 2025.
Major histocompatibility complex class (MHC)-II deficiency is a rare autosomal recessive combined immunodeficiency, accounting for 4.1% of inborn errors of immunity (IEI) cases in North Africa and the Middle East. Most patients do not survive beyond the age of 10 years. The cases described in this study are rare and unusual for MHC-II deficiency. We report the cases of four unrelated patients of Moroccan origin with MHC-II deficiency. Immunophenotyping of lymphocyte subpopulations and analysis of human leukocyte antigen-DR (HLA-DR) expression were performed using flow cytometry. Genetic analysis was conducted through direct sequencing. The mean age of our patients was 18.75 years (range 16-26 years); the mean age at diagnosis was 14.07 years, and the mean age of onset of symptoms was 5.25 months. The clinical presentation is characterized by recurrent pulmonary infections with predominant bronchial dilatation and hemorrhagic rectocolitis. The diagnosis was confirmed in all patients by absence of HLA-DR expression and detection of the c.338-25_338del mutation in . Three (75%) of our patients are still alive and are on monthly intravenous immunoglobulin (IVIG) therapy. It is important to consider MHC-II deficiency in the differential diagnosis of combined immunodeficiencies across all age groups. Further studies are needed to elucidate the various phenotypes associated with this condition.
主要组织相容性复合体II类（MHC-II）缺陷是一种罕见的常染色体隐性联合免疫缺陷病，在北非和中东地区占先天性免疫缺陷（IEI）病例的4.1%。大多数患者活不过10岁。本研究中描述的病例对于MHC-II缺陷来说较为罕见且不寻常。我们报告了4例来自摩洛哥的无亲缘关系的MHC-II缺陷患者的病例。使用流式细胞术对淋巴细胞亚群进行免疫表型分析并分析人类白细胞抗原-DR（HLA-DR）表达。通过直接测序进行基因分析。我们患者的平均年龄为18.75岁（范围16 - 26岁）；诊断时的平均年龄为14.07岁，症状出现的平均年龄为5.25个月。临床表现的特征为反复肺部感染，主要表现为支气管扩张和出血性直肠结肠炎。所有患者均通过检测不到HLA-DR表达以及在……中检测到c.338 - 25_338del突变而确诊。我们的患者中有3例（75%）仍然存活，并且每月接受静脉注射免疫球蛋白（IVIG）治疗。在所有年龄组的联合免疫缺陷的鉴别诊断中考虑MHC-II缺陷很重要。需要进一步研究以阐明与这种疾病相关的各种表型。
