Amarilla B. Mandola

发表

Chronic mucocutaneous candidiasis associated with a novel frameshift mutation in IL-17 receptor alpha

H. Dadi, A. Aujnarain, Amarilla B. Mandola, 2019, LymphoSign Journal.

Salmonella typhi infection causing prolonged chronic illness and cutaneous leucocytoclastic vasculitis in a patient with IL-12 receptor β1 deficiency

A. Nahum, A. Broides, Amarilla B. Mandola, 2016 .

Novel heterozygous NFKB1 mutation—variable penetrance in a family cohort

N. Sharfe, Amarilla B. Mandola, 2019, LymphoSign Journal.

Defining the biological responses of IL-6 by the study of a novel IL-6 receptor chain (IL6R) immunodeficiency.

A. Nahum, H. Dadi, C. Roifman, 2019, The Journal of allergy and clinical immunology.

A genetic database and clinical findings for immunodeficiency due to mutations in interleukin-10, interleukin-10 receptor A, and interleukin-10 receptor B genes

A. Nahum, Amarilla B. Mandola, Yotam Eshel, 2017 .

Incidence of typically Severe Primary Immunodeficiency Diseases in Consanguineous and Non-consanguineous Populations

A. Nahum, B. Yerushalmi, V. Pinsk, 2017, Journal of Clinical Immunology.

Antenatal diagnosis and treatment of hypothyroid fetal goiter in an euthyroid mother: a case report and review of literature

I. Shelef, O. Erez, N. Loewenthal, 2015, The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians.

Novel heterozygous PIK3CD mutation presenting with only laboratory markers of combined immunodeficiency

B. Reid, H. Dadi, C. Roifman, 2020 .

Roifman-Chitayat Syndrome

D. Chitayat, C. Roifman, Amarilla B. Mandola, 2020, Genetic Syndromes.

Combined immunodeficiency caused by a novel homozygous NFKB1 mutation.

D. Merico, B. Reid, H. Dadi, 2020, The Journal of allergy and clinical immunology.

Histamine, histamine receptors, and anti-histamines in the context of allergic responses

T. Eiwegger, Amarilla B. Mandola, Asako Nozawa, 2019, LymphoSign Journal.

Ataxia Telangiectasia Diagnosed on Newborn Screening–Case Cohort of 5 Years' Experience

D. Bulman, B. Reid, C. Roifman, 2019, Front. Immunol..

A novel homozygous mutation in CIITA resulting in MHC Class II deficiency in an adult patient

Amarilla B. Mandola, S. Betschel, J. Hsieh, 2018, LymphoSign Journal.

DNA‐Binding domain mutations confer severe outcome at an early age among STAT1 gain‐of‐function patients

A. Nahum, H. Dadi, C. Roifman, 2021, Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology.

Neutrophil Functions in Immunodeficiency Due to DOCK8 Deficiency

A. Simon, A. Nahum, R. Somech, 2019, Immunological investigations.

The clinical and laboratory spectrum of dedicator of cytokinesis 8 immunodeficiency syndrome in patients with a unique mutation

A. Simon, A. Nahum, R. Somech, 2017, Immunologic Research.

The clinical and laboratory spectrum of dedicator of cytokinesis 8 immunodeficiency syndrome in patients with a unique mutation

M. Eldan, A. Simon, A. Nahum, 2017, Immunologic Research.

Coronin 1A deficiency identified by newborn screening for severe combined immunodeficiency

B. Reid, Y. Schejter, Amarilla B. Mandola, 2019, LymphoSign Journal.

Deep phenotypic characterization of the retinal dystrophy in patients with RNU4ATAC-associated Roifman syndrome.

E. Héon, A. Vincent, C. Roifman, 2023, Eye.

Association of cerebral activity with MRI scans in infants with neonatal encephalopathy undergoing therapeutic hypothermia

V. Novack, I. Shelef, E. Shany, 2019, European Journal of Pediatrics.