Z. Alsum

发表

Herpes simplex encephalitis in children with autosomal recessive and dominant TRIF deficiency.

D. Chaussabel, J. Casanova, C. Picard, 2011, The Journal of clinical investigation.

Clinical, Immunological and Molecular Characterization of DOCK8 and DOCK8-like Deficient Patients: Single Center Experience of Twenty Five Patients

A. Al-ghonaium, H. Khalak, A. Eldali, 2012, Journal of Clinical Immunology.

Inherited IL-12p40 Deficiency: Genetic, Immunologic, and Clinical Features of 49 Patients From 30 Kindreds (vol 92, pg 109, 2013)

Sami Al-Hajjar, C. Picard, L. Abel, 2013 .

Clinical and Immunological Characterization of Combined Immunodeficiency Due to TFRC Mutation in Eight Patients

A. Alazami, S. Al‐Muhsen, Z. Alsum, 2020, Journal of Clinical Immunology.

Revisiting Human IL-12R&bgr;1 Deficiency: A Survey of 141 Patients From 30 Countries

Smita Y. Patel, A. Al-ghonaium, Sami Al-Hajjar, 2010, Medicine.

DOCK8 Deficiency: Clinical and Immunological Phenotype and Treatment Options - a Review of 136 Patients

J. Orange, A. Schulz, R. Geha, 2015, Journal of Clinical Immunology.

Methylation-specific multiplex-ligation-dependent probe amplification as a rapid molecular diagnostic tool for pseudohypoparathyroidism type 1b.

F. Alkuraya, Z. Alsum, A. Nygren, 2010, Genetic testing and molecular biomarkers.

Outcome of hematopoietic stem cell transplantation for adenosine deaminase-deficient severe combined immunodeficiency.

A. Fischer, W. Friedrich, L. Notarangelo, 2012, Blood.

Multiple Family Members With Delayed Cord Separtion and Combined Immunodeficiency With Novel Mutation in IKBKB

F. Alkuraya, Z. Alsum, Nouf Alkhamis, 2020, Frontiers in Pediatrics.

Human SNORA31 variations impair cortical neuron-intrinsic immunity to HSV-1 and underlie herpes simplex encephalitis

J. Casanova, W. Gilbert, Maria F Rojas-Duran, 2019, Nature Medicine.

Inherited IL-12p40 Deficiency

Sami Al-Hajjar, J. Casanova, C. Picard, 2013, Medicine.

DOCK8 Deficiency: Clinical and Immunological Phenotype and Treatment Options - a Review of 136 Patients

J. Orange, A. Schulz, R. Geha, 2015, Journal of Clinical Immunology.

Primary immunodeficiency diseases in the Middle East

S. Al‐Muhsen, Z. Alsum, 2012, Annals of the New York Academy of Sciences.

JAK Inhibitor Therapy in a Child with Inherited USP18 Deficiency.

J. Casanova, A. Al-Eyadhy, M. Temsah, 2020, The New England journal of medicine.

Clinical, Immunological and Molecular Characterization of DOCK8 and DOCK8-like Deficient Patients: Single Center Experience of Twenty Five Patients

A. Al-ghonaium, H. Khalak, A. Eldali, 2012, Journal of Clinical Immunology.

Disseminated cryptococcal infection in patient with novel JAK3 mutation severe combined immunodeficiency, with resolution after stem cell transplantation.

A. Al-ghonaium, S. Al‐Muhsen, Z. Alsum, 2012, The Pediatric Infectious Disease Journal.

Revisiting Human IL-12R&bgr;1 Deficiency: A Survey of 141 Patients From 30 Countries

Smita Y. Patel, A. Al-ghonaium, Sami Al-Hajjar, 2010, Medicine.

Herpes simplex encephalitis in children with autosomal recessive and dominant TRIF deficiency.

D. Chaussabel, J. Casanova, C. Picard, 2011, The Journal of clinical investigation.