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Title	Authors
A Copy Number Gain in NFKB2 in a Patient with Immune Dysregulation	Jordana Gross MD, Daniel DiGiacomo MD MPH, Barrie Cohen MD
A gene therapy approach for the threatment of Inborn Errors of Immunity caused by mutations in large genes	Elisabetta Toriello, Antonio De Rosa, Carmen Rosano, Cosimo Abagnale, Rosa Maritato, Alessia Medugno, Roberta Romano, Emilia Cirillo, Enrico Maria Surace, Claudio Pignata, Giuliana Giardino
A Late Diagnosis of Chronic Granulomatous Disease	Cynthia Haddad MD, Lauren Franzblau MD
A Novel Variant in STAT3 in a Patient with Immune Dysregulation	Konstandina Kokinakos DO, Nagalogi Mayuran, Tiphanie Vogel MD PhD, Barrie Cohen MD
A Practical Approach to the Management of Anaphylaxis induced by the Infusion of Intravenous Immunoglobulins: A Case Report	Matheu, V, MD,PhD; Machado, P, MD; Suárez-Toste, I, MD; Franco, A, MD; Medina-Heras, S,MD,PhD Barrios, Y, MD,PhD
A unique pathogenic heterozygous hyou1 mutation presenting with recurrent osteomyelitis	Cody Kobielus, OSMIII, Lauren Worth, DO, Kiran Sehmi, MD, Remie Saab, MD, Robert Hostoffer, DO
Activated PI3K Delta Syndrome in a Pediatric Patient: A Case Report on Diagnosis and Management	Cristhel Puente, MD; Juan Carlos Aldave, MD
Acute Liver Failure Unmasking XIAP-Deficiency in Very Early Onset IBD	Alyssa Baccarella MD, Tamir Diamond MD, Aaron Bennett MD, Trusha Patel, MD, Brooke Boyer, MD, Maire Conrad, MD, Hana Conlon CRNP, Whitney Petrosa CRNP, Kathleen M. Loomes MD, Scott Canna MD, Judith R. Kelsen, MD
An Uncommon Case of a Patient with CVID & PANDAS	A.T. Nguyen, Y. Shi, T. Zheng
Autoimmune Lymphoproliferative Syndrome (ALPS): a pediatric single-center case series	Dorna MB, Rangel-Santos AC, Moura TCL, Nunes FAMF, Garanito MP, Pastorino AC, Carneiro-Sampaio MS
cAMP-modulated Disease in MAGIS Syndrome	Eesha Chattopadhyay, Priscilla Quackenbush, Benjamin Turturice, Margaret Abaandou, Huie Jing, Christopher Koh, Paul Demarco, Helen Su
CEBPE Mutation Variant as a Cause of Inflammasomopathy	Bryan Witt, MD, Holly Miller, DO, Michell Lozano Chinga, MD
Challenging the Paradigm: Severe Rheumatoid Arthritis and Anti-TNF Failure in an X-Linked Agammaglobulinemia Patient	Noha Benharira, Fatemah AlYaqout, Christos Tsoukas CM MD MSc FRCPC FCAHS
Chronic Urticaria in the Setting of Atypical FMF	Zeenat Hussain DO, Yasaman Badakhshi MD, Brianne Navetta-Modrov MD
Clinical and genetic characteristics of global cohort of 132 individuals with Janus kinase-3 deficiency	Polyakova Ekaterina PhD, Pac Malgorzata MD,PhD, Dąbrowska Leonik Nel MD,PhD, Delavari Sama MD,PhD, Rezaei Nima MD,PhD, Abolhassani Hassan MD,PhD, Tkemaladze Tinatin MD,PhD, Kvilividze Oleg MD,PhD, Pashchenko Olga E. MD,PhD, Vakhlyarskaya Svetlana S. MD,PhD, Kondratenko Irina V. MD,PhD, Sakovich Inga S. , Belevtsev Mikhail PhD, Tsekhanovich Dmitry A , Aleshkevich Svetlana N. MD,Geier Christoph B. MD, Leiss Piller Alexander , Çiğdem Aydoğmuş MD,PhD, Pınar Gökmirza Özdemir MD, PhD, Serdar Al MD, PhD, Miller Rahim, Kiykim Ayca MD, PhD, Baris Safa MD, PhD, Notarangelo Luigi MD, Gennery Andrew R MD,PhD, Walter Jolan E. MD,PhD, Sharapova Svetlana O. PhD
Clinical profile of pediatric Primary Immune Deficiency (PID) disorders in a highly consanguineous population from south India	Reena Gulati, Vir S Negi, Haripraveen A
Clinical-molecular characteristics of very early early-onset inflammatory bowel disease in Brazilian children	Tatyana C Kock MD PhD, Flavia A Alves RD PhD, Erica R Rodrigues MD PhD, Cristina P de Barros MD PhD PhD, and Gesmar Segundo MD PhD
DOCK8 Deficiency: extended clinical phenotypes and the impact of somatic reversions	Alexandra F Freeman, Chen Wang, Grace Suh, Layne Oram, Meera Patel, Huie Jing, Basak Kayaoglu, Bianca Chan, Annalie Harris, Lindsey B. Rosen, Sanathanasabapathy Rajasekaran, Amanda Urban, Andrea Lisco, Gulbu Uzel, Dennis Hickstein, Nirali N. Shah, Sung-Yun Pai, Corina Gonzalez, Steven M Holland, Heidi H. Kong, Helen C. Su
Elapegademase in patients with ADA-SCID previously treated with pegademase: a case series	Morna J. Dorsey, Heather Lehman, Tracy Fausnight, Noemi Toiber Temin, Manish J. Butte
Experience of germline genetic testing for inborn errors of immunity: using multigene panel testing compared to exome sequencing at a diagnostic laboratory	Daniel E. Pineda-Alvarez, Trevor J. Williams, Yi-Lee Ting
Extremely delayed diagnosis of cystic fibrosis in an elderly female presenting with IgG subclass deficiency	Jonathan Estaris, MD, MBA, Jennifer Mbuthia, MD
FOXI3 Variant Associated with Persistent T Cell Lymphopenia	Luke Heil MD PhD, Mark Wurth MD PhD, Roman Deniskin MD PhD
From agammaglobulinemia to neutropenia: The TCF-3 has different clinical presentations	Hulya Kose, Sara Sebnem Kilic
GENETICS IN A DANISH COMMON VARIABLE IMMUNODEFICIENCY COHORT	Camilla Heldbjerg Drabe, Mira Marie Laustsen, Hanne Vibeke Marquart, Hans Jakob Hartling, Rasmus L. Marvig, Jannik Helweg-Larsen, Ann-Brit Eg Hansen, Jens Lundgren, Marie Helleberg, Line Borgwardt, Terese L. Katzenstein
Genotype-Phenotype Correlations in Patients with STAT1 Gain-of-Function Mutations: A Case Series	Valerie Jaroenpuntaruk, MD, Avni Joshi, MD, MS
Improving Pediatric Resident Awareness of Inborn Errors of Immunity (IEI): A Quality Improvement Initiative	Mohamad Baraa Alebaji, MBBS, Liseth Burbano P., MD, Maria-Anna Vastardi, MD
Insights into EBV Infection in an Adult with X-Linked Lymphoproliferative Syndrome	Andrew Wong-Pack, Vivian G. Szeto, George Cai, Rae Brager, Harold Kim, Jenny Garkaby
Investigation Into the Viscosity of Commercial IG Preparations	Suzanne Strasters, MSN, FNP-C, IgCN; Stacey Ness, PharmD, MSCS, CSP, AAHIVP IgCP; Nari Ji; JaeWoon Son, PhD; Alan Huber, PharmD, MBA, BSc Pharm
KMT2A Haploinsufficiency in a Patient with Multiple Congenital Anomalies, Recurrent Sinopulmonary Infections, and Relapsed Hodgkin Lymphoma	Lyndsay Molinari MD, Joel Kaplan DO, David Gass, MD, Kevin Buckley MD
Late-Onset Blau Syndrome: A Case of Misdiagnosis, Delayed Diagnosis, and the Impact of Social Challenges	Leah A. Kaplan, MD; Maboobeh Mahdavinia, MD, PhD; Christopher Codispoti, MD, PhD
Miller Fischer Syndrome as a Rare Mimic of Botulism	Jamal Obeid, MD; Leen Khalife, MD; Ahmed Souid, MD; Vincent Calleo, MD, FACEP, FAAP
New onset IBD in 19 years old female with colon perforation, multi-organ thrombi and possible catastrophic antiphospholipid syndrome, concerning for genetically driven immune dysregulation	Yossef Goffer MD PhD, Elisabeth Hodara MD, Adam Haines MD, Ariela Agress MD, Xiao Peng MD/PhD and Larry Bernstein MD
Paraneoplastic hypereosinophilia associated with lung squamous cell carcinoma	Melanie Donahue, M.D., Anjali Sundar, M.D., George Freigeh, M.D.
Pharmacokinetics of a New Intravenous Immunoglobulin 10% in Patients With Primary Immunodeficiency	Miranda Norton, Eva Gonzalez, Roberto Crea, Elena Perez, Chaim M. Roifman
Primary Intestinal Lymphangiectasia as a Cause of Combined Immunodeficiency	Rebecca Hall BS, Laurie-Ann Panton MD, Linda Ineus BS, Ashley Nguyen MD, Jason Shapiro MD, Irina Gorbounova MD, David Hoytema van Konijnenburg MD PhD
Roles of common gamma chain on intestinal lymphoid organogenesis using an animal model and patients’ samples of X-SCID	Yoji Sasahara, Tomonori Nochi
Safety and Tolerability of a New Intravenous Immunoglobulin 10% in Patients With Primary Immunodeficiency	Miranda Norton, Eva Gonzalez, Roberto Crea, Elena Perez, Chaim M. Roifman
Secondary Immunodeficiency in Marginal Zone Lymphoma and Impact of Bruton Tyrosine Kinase Inhibitor	Tarandeep Singh MSc DO, Alan Urdabayev, Michael R Cook MD, Lee Hartner MD, Priya J Patel MD, Timothy M Buckey MD MBE
Selective JAK Inhibition Ameliorates Aire Deficient Driven Autoimmunity	Eliezer Heller, Lucas dos Santos Dias, Michail S. Lionakis
STAT5B haploinsufficiency presenting with severe atopic dermatitis without immune dysregulation	Crhistian Toribio Dionicio, Yihui Liu, Julie Niemela, Hye Sun Kuehn, Celeste Nelson, Sergio Rosenzweig, Monica Lawrence, Jonathan Lyons
Successful Treatment of Refractory Disseminated Coccidiomycosis with Adjunctive Interferon-γ	Annalie Harris, Jennifer Treat, Gail Holt, Samantha Kreuzberg, Lindsey B. Rosen, Jennifer Treat, Steven M. Holland, Christa S. Zerbe
Two Cases of B-Cell Deficiency Associated with IGLL1 Variants Identified Through Newborn Screening in Ukraine	Oksana Boyarchuk, Yaryna Romanyshyn, Ihor Savchak, Nataliia Yarema, Halyna Makukh, Jolan E. Walter
WHIM Syndrome Diagnosis in a Parent and Child	Isaiah Ingram MD, Craig Sewell, DO, Kathleen Overholt MD, Nurcicek Padem MD

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