Results 251 to 260 of about 36,538 (290)

Targeting Complex Cutaneous Viral Infections in Search of Inborn Errors of Immunity. [PDF]

Acta Derm Venereol
Do Carmo AP, Battle AR, Fragnan NTML, Machado CAS, Constantino-Silva RN, Henrickson SE, Grumach AS.   +6 more
europepmc   +1 more source

Delayed diagnosis of STAT1 gain-of-function variant in a patient with multiple endocrine autoimmunity and recurrent fungal infections. [PDF]

Endocrinol Diabetes Metab Case Rep
Sparanese S, Brager R, Fahmy D, Garkaby J.   +3 more
europepmc   +1 more source

Major Histocompatibility Complex Class II Deficiency Beyond Infancy. [PDF]

Case Reports Immunol
Kattra AB, Benhsaien I, Drissi Bourhanbour A, Aadam Z, Errami A, Ailal F, Bousfiha AA, El Bakkouri J.   +7 more
europepmc   +1 more source

Genética Médica y personalidades mundiales: personajes con enfermedades de causa genética o errores en la morfogénesis

Revista de Ciencias Médicas de Pinar del Río
Estela Morales Peralta, Miguel Alfonso Alvarez Fornaris   +1 more
doaj  

Inborn errors of immunity with atopic phenotypes in the allergy and immunology clinic: a practical review. [PDF]

Curr Opin Allergy Clin Immunol
Taietti I, Catamerò F, Lodi L, Giovannini M, Castagnoli R.   +4 more
europepmc   +1 more source

An Association between MEFV Mutation and ANCA-Associated Vasculitis Involving the Central Nervous System and Lungs: Causality Under Scrutiny. [PDF]

Eur J Case Rep Intern Med
Villander Barros de Oliveira Sá M, Brito A, Baié M, Pacheco F, Vasconcelos L.   +4 more
europepmc   +1 more source

Longest survivor of pulmonary atresia with ventricular septal defect without surgical intervention

ESC Heart Failure, Volume 12, Issue 2, Page 1499-1507, April 2025.
Sang Zhou, Yu Wu, Guoran Li, Yongwen Qin, Man Qi, Zhitao Jin   +5 more
wiley   +1 more source

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Inborn errors of immunity: an expanding universe of disease and genetic architecture

Nature Reviews Genetics, 2023
Inborn errors of immunity (IEIs) are generally considered to be rare monogenic disorders of the immune system that cause immunodeficiency, autoinflammation, autoimmunity, allergy and/or cancer. Here, we discuss evidence that IEIs need not be rare disorders or exclusively affect the immune system.
Yemsratch T. Akalu, Dusan Bogunovic
openaire   +2 more sources