Phenotypes of 126 Moroccan HIES patients according to NIH Score

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Published Oct 8, 2024
https://doi.org/10.62438/tunismed.v102i10.5148
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Vol. 102 No. 10 (2024): Tunis Med oct 2024

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Ilham Fadil
Laboratory of Clinical Immunology, Inflammation, and Allergy (LICIA), Faculty of Medicine and Pharmacy, Hassan II University, Casablanca, Morocco
Ibtihal Benhsaien
Laboratory of Clinical Immunology, Inflammation, and Allergy (LICIA), Faculty of Medicine and Pharmacy, Hassan II University, Children Infectious Diseases and Clinical Immunology Departement, Children ’ s Hospital, Ibn Rochd University Hospital, Casablanca, Morocco
Jalila El Bakkouri
Laboratory of Clinical Immunology, Inflammation, and Allergy (LICIA), Faculty of Medicine and Pharmacy, Hassan II University, Immunology Laboratory, Ibn Rochd University Hospital, Casablanca, Morocco
Leila Jeddane
Laboratory of Clinical Immunology, Inflammation, and Allergy (LICIA), Faculty of Medicine and Pharmacy, Hassan II University, National Reference Laboratory, Mohamed VI Health Sciences University, Casablanca, Morocco
Noufissa Benaajiba
Department of Pediatrics, Mohammed VI University Hospital, Oujda, Morocco
Noureddine Rada
Department of Pediatric Infectious Diseases, Mohammed VI University Hospital, Marrakesh, Morocco
Mohamed Hbibi
Department of Pediatric Diseases, Hassan II University Hospital, Fes, Morocco
Naïma Amenzoui
Children Infectious Diseases and Clinical Immunology Departement, Children ’ s Hospital, Ibn Rochd University Hospital, Casablanca, Morocco
Sara Ben Miloud
Pediatric Hematology and Oncology Unit, Hassan II Hospital University Fes, Morocco
Mustapha Hida
Department of Pediatric Diseases, Hassan II University Hospital, Fes, Morocco
Mohammed Bouskraoui
Pediatric A Department, Mohammed VI University Hospital, Marrakesh, Morocco
Fatima-Zahra El Fetoiki
Departement of Dermatology and Venereology, University Hospital of Ibn Rochd, Casablanca, Morocco
Fouzia Hali
Departement of Dermatology and Venereology, University Hospital of Ibn Rochd, Casablanca, Morocco
Soumiya Chiheb
Departement of Dermatology and Venereology, University Hospital of Ibn Rochd, Casablanca, Morocco
Brahim Admou
Immunology Laboratory, Mohammed VI University Hospital, Marrakesh, Morocco.
Jean Laurent Casanova
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, 75015 Paris . Paris Cité University, Imagine Institute, 75015 Paris. Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, AP-HP, 75015 Paris, France . St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY 10065, USA
Anne Puel
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, 75015 Paris. Paris Cité University, Imagine Institute, 75015 Paris, France. St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY 10065, USA
Bertrand Boisson
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, 75015 Paris. Paris Cité University, Imagine Institute, 75015 Paris, France. St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY 10065, USA
Vivien Béziat
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, 75015 Paris. Paris Cité University, Imagine Institute, 75015 Paris, France.
Fatima Ailal
Laboratory of Clinical Immunology, Inflammation, and Allergy (LICIA), Faculty of Medicine and Pharmacy, Hassan II University, Children Infectious Diseases and Clinical Immunology Departement, Children ’ s Hospital, Ibn Rochd University Hospital, Casablanca, Morocco
Ahmed Aziz Bousfiha
Laboratory of Clinical Immunology, Inflammation, and Allergy (LICIA), Faculty of Medicine and Pharmacy, Hassan II University, Children Infectious Diseases and Clinical Immunology Departement, Children ’ s Hospital, Ibn Rochd University Hospital, Casablanca, Morocco

Abstract

Introduction: Hyper-IgE syndrome  is a group of inborn errors of immunity, some of which are syndromic, characterized clinically by the classic triad of chronic eczema, cutaneous and/or pulmonary staphylococcal infections and high serum IgE concentrations (> 2000 IU/ml or > 10 x normal for age).


Aim: We report here the clinical and immunological aspects of Moroccan patients presenting probable or possible HIES according to NIH-HIES score.


Methods: This retrospective study covers the period from 1998 to 2023 and includes Moroccan patients with a clinical presentation suggestive of HIES (skin and/or pulmonary infections, eczema, high IgE levels) and an NIH score ≥ 20. We attempted to classify the patients phenotypically according to the 2022 IUIS IEI Expert Committee classification. Results: Median age at symptom onset was 0.5 years and median age at diagnosis was 5.5 years. The main clinical signs were eczema (66%), skin abscesses (32.5%), pneumonia (32.5%), otitis (20%), mucocutaneous candidiasis (19%), diarrhea (12%), facial dysmorphism (10.3%), lymphadenopathy (9.5%), bronchial dilation (8%), pneumatoceles (8%), conjunctivitis (7.1%), rhinitis (6.3%), psychomotor delay (5.6%), pathological fractures (4%), retention of deciduous teeth (4%), cognitive delay (3.2%).


Conclusion: This is the first clinical description of a cohort of Moroccan patients presenting HIES according to NIH criteria. Phenotype can sometimes orient towards identification of the mutated gene, but the overlapping clinical signs make molecular analysis necessary for genetic counseling and appropriate treatment.

Keywords:

Inborn errors of immunity, Moroccan population, Hyper IgE syndrome , Associated or syndromic combined immunodeficiency, NIH-HIES score.

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This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

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