Search

Background: Inborn errors of immunity (IEI) predispose patients to various infectious and non-infectious complications. Thanks to the development and expanding use of flow cytometry and increased awareness, the diagnostic rate of IEI has markedly increased in Algeria the last decade., Aim: This study aimed to describe a large cohort of Algerian patients with probable IEI and to determine their clinical characteristics and outcomes., Methods: We collected and analyzed retrospectively the demographic data, clinical manifestations, immunologic, genetic data, and outcome of Algerian IEI patients - diagnosed in the department of medical immunology of Beni Messous university hospital center, Algiers, from 2008 to 2021., Results: Eight hundred and seven patients with IEI (482 males and 325 females) were enrolled, 9.7% of whom were adults. Consanguinity was reported in 50.3% of the cases and a positive family history in 32.34%. The medium age at disease onset was 8 months and at diagnosis was 36 months. The median delay in diagnosis was 16 months. Combined immunodeficiencies were the most frequent (33.8%), followed by antibody deficiencies (24.5%) and well-defined syndromes with immunodeficiency (24%). Among 287 patients tested for genetic disorders, 129 patients carried pathogenic mutations; 102 having biallelic variants mostly in a homozygous state (autosomal recessive disorders). The highest mortality rate was observed in patients with combined immunodeficiency (70.1%), especially in patients with severe combined immunodeficiency (SCID), Omenn syndrome, or Major Histocompatibility Complex (MHC) class II deficiency., Conclusion: The spectrum of IEI in Algeria is similar to that seen in most countries of the Middle East and North Africa (MENA) region, notably regarding the frequency of autosomal recessive and/or combined immunodeficiencies., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Belaid, Lamara Mahammed, Drali, Oussaid, Touri, Melzi, Dehimi, Berkani, Merah, Larab, Allam, Khemici, Kirane, Boutaba, Belbouab, Bekkakcha, Guedouar, Chelali, Baamara, Noui, Baaziz, Rezak, Azzouz, Aichaoui, Moktefi, Benhatchi, Oussalah, Benaissa, Laredj, Bouchetara, Adria, Habireche, Tounsi, Dahmoun, Touati, Boucenna, Bouferoua, Sekfali, Bouhafs, Aboura, Kherra, Inouri, Dib, Medouri, Khelfaoui, Redjedal, Zelaci, Yahiaoui, Medjadj, Touhami, Kadi, Amireche, Frada, Houasnia, Benarab, Boubidi, Ferhani, Benalioua, Sokhal, Benamar, Aggoune, Hadji, Bellouti, Rahmoune, Boutrid, Okka, Ammour, Saadoune, Amroun, Belhadj, Ghanem, Abbaz, Boudrioua, Zebiche, Ayad, Hamadache, Ouaras, Achour, Bouchair, Boudiaf, Bekkat-Berkani, Maouche, Bouzrar, Aissat, Ibsaine, Bioud, Kedji, Dahlouk, Bensmina, Radoui, Bessahraoui, Bensaadi, Mekki, Zeroual, Chan, Leung, Tebaibia, Ayoub, Mekideche, Gharnaout, Casanova, Puel, Lau, Cherif, Ladj, Smati, Boukari, Benhalla and Djidjik.)

Purpose: To report current results of vaginoplasty using the mucosa of the prepuce, and creating labia minora by penile skin in children with disorders of sex development (DSD)., Methods: In 10 years, we have performed 22 vaginoplasties using the described technique of vaginoplasty, 21 patients with 46, XX DSD and 1 ovotesticular DSD. The assessment of the results of this technique of vaginoplasty was undertaken in several stages: (a) The evaluation of the cosmetic result. (b) The research for a urinary incontinence and urethrovaginal fistulas. (c) The research for a vaginal stenosis by the introduction of a lubricated feeding tube into the vaginal cavity. The labia minora was evaluated by three criteria: its skin should be thin and very supple, it should have a free edge which partially or totally covers the clitoris, urethral meatus, and vaginal orifice; and it is preferable that its color be darker than the rest of the skin., Results: The cosmetic outcome was considered by parents and the surgeon as very satisfactory in 11 patients (50% of cases), satisfactory in 4 patients (18.2%), and unsatisfactory in 7 patients (31.8%). The postoperative complications were five cases of proximal stenosis (22.7%), one distal stenosis (stenosis of introitus) and two necrosis of the preputial flap. No urethrovaginal fistula and urinary incontinence were reported., Conclusions: In infant and young child, when it is difficult to make use of complete urogenital mobilization, the mucosa of the prepuce can be an alternative to create a neovagina, its histological constitution is identical to a vaginal wall, and it does not prevent to have a good labia minora.

Objectives: To evaluate the mid-term results of clitoroplasty through the reduction of the length and diameter of the corpus cavernosum, as well as the volume of the glans., Patients and Methods: From October 2003 to July 2015, we performed 29 clitoroplasties using the described procedure. The median (range) age of the patients was 18 (3-47) months. After surgery we evaluated the volume of the clitoris, the appearance of glans, and its sensitivity to light touch, pressure, and pain., Results: The length of the apparent part of the glans remained large (>10 mm) in four patients (14%), was an average size (between 5 and 10 mm) in 11 (39%), and small (<5 mm) in 13 (46%). The length of the corpus cavernosum was <20 mm and its diameter <5 mm in all cases. The sensitivity of the reduced clitoris to touch, pressure and pain seemed normal in all patients. In addition, we never found the circumflex arteries and nerves of the penis (on histological examination of excised pieces of corpus cavernosum) in all children operated on during the first 3 years of life. The circumflex arteries of the penis begin to develop, only after the fourth year. This anatomical finding is an argument for performing clitoroplasty at an early age to avoid any risk of intraoperative and postoperative bleeding., Conclusions: The sensitivity of the clitoral glans appeared to be normal in all cases, with a good cosmetic appearance of the external genitalia in most patients.

Wolfram syndrome (WS) is a rare autosomal recessive progressive neurodegenerative disorder, and it is mainly characterized by the presence of diabetes mellitus and optic atrophy. Other symptoms such as diabetes insipidus, deafness, and psychiatric disorders are less frequent. The WFS1 gene, responsible for the disease and encoding for a transmembrane protein called wolframin, was localized in 1998 on chromosome 4p16. In this report, we present a familial observation of Wolfram syndrome (parents and three children). The propositus was a 6-year-old girl with diabetes mellitus and progressive visual loss. Her family history showed a brother with diabetes mellitus, optic atrophy, and deafness since childhood and a sister with diabetes mellitus, optic atrophy, and bilateral hydronephrosis. Thus, association of these familial and personal symptoms is highly suggestive of Wolfram syndrome. The diagnosis was confirmed by molecular analysis (biology), which showed the presence of WFS1 homozygous mutations c.1113G>A (p.Trp371*) in the three siblings and a heterozygote mutation in the parents. Our observation has demonstrated that pediatricians should be aware of the possibility of Wolfram syndrome when diagnosing optic atrophy in diabetic children., (Copyright © 2014 Elsevier Masson SAS. All rights reserved.)