Primary immune deficiency differential diagnosis prediction via machine learning and data mining of the USIDNET registry.
INTRODUCTION: Computational aids based on data mining and machine learning might facilitate […]
Diagnosis
Molecular autopsy for children with lethal infections
BACKGROUND: Children with lethal infections present an early and extreme phenotype, most
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IMMUNODEFICIENCIES AT AN ADULT IMMUNOLOGY CENTER OVER FOUR DECADES OF FOLLOW UP. AN UPDATE
Introduction Immunodeficiencies (IDs) can be classified as inborn errors of immunity (IEIs)
DEFICIENCIA DE G6PC3: ESPECTRO CLÍNICO EN PACIENTES PEDIÁTRICOS
La neutropenia congénita severa es una inmunodeficiencia primaria caracterizada por neutropenia severa
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Facial cutaneous pigmentation pattern helps differentiate between Griscelli syndrome and Chediak Higashi syndrome
Facial cutaneous pigmentation pattern helps differentiate between Griscelli syndrome and Chediak Higashi
Echocardiographic changes related to pulmonary hypertension in humoral inmunodeficiencies
Introduction Primary humoral immunodeficiencies leads to recurring infections primarily in mucosal surfaces
NOVEL IL2RG MUTATION IN A PATIENT WITH SCID-X1
10-month-old male patient, two healthy sisters, history of BCG vaccine, 4 month
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Identification of new candidate genes for inborn errors of immunity in a cohort of undiagnosed patients.
Introduction: The latest release (2022) of the IUIS lists 485 different inborn
