Primary Immunodeficiency

702

Resolution of T Cell Lymphopenia in a Term Infant with Absent TRECs on Newborn Screen
Peter Mustillo, MD FAAAAI Rosemary Hage Margaret Redmond, MD

703

The University of Virginia Experience at Implementing Newborn Screening for Severe Combined Immunodeficiency (SCID)
Thamiris V Palacios, DO Brooke Vergales, MD Julia Wisniewski, MD Larry Borish, MD FAAAAI Monica G. Lawrence, MD

704

A Call for an Early Clinical Consideration for Ataxia-Telangiectasia in Infants with Low TREC and Combined Immunodeficiency
Rony Greemberg, MD Ronit Herzog, MD

705

Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome (IPEX) Associated with Neurological Presentation
Mehdi M. Adeli, MD Heidi Sandige, Co - Author Adiba Hamad Eman Almuslemani

706

Novel Presentation of STAT1 Gain of Function (GOF) with Specific Antibody Deficiency without Fungal Infection
Maya Gharfeh Alexander Vargas-Hernandez Ivan K. Chinn, MD I. Celine Hanson, MD FAAAAI Lisa R. Forbes, MD

707

Two Symptomatic Patients with Atypical Heterozygous Artemis Mutation Along with Other Mutations Including TACI, While Parents with an Isolated Heterozygote Mutation Were Asymptomatic
Lahari Rampur, MD Rachel Eisenberg, MD Jennifer Toh, MD Arye Rubinstein, MD

708

Detection of the 22q11 Deletion Using Dried Blood Spots and Digital PCR
Lisa J. Kobrynski, MD MPH FAAAAI

709

Newborn Screening for SCID Is Associated with a Shorter Interval from Diagnosis to Transplant
Juhee Lee, MD Kathleen E. Sullivan, MD PhD FAAAAI Soma Jyonouchi, MD Alix E Seif, MD MPH Nancy Bunin, MD Jennifer Heimall, MD

710

Incongruent Phenotypic Expression of Autosomal Dominant Hyper IgE Syndrome (AD-HIES) in a Mother and Son
Charles J. Calais, DO

711

Prolonged Immune Suppression after Rituximab Use in Children
Susanne LaBarba, DO Blanka M. Kaplan, MD FAAAAI Barbara Eberhard, MD

712

A Case of Severe Combined Immunodeficiency (SCID) Due to Cartilage Hair Hypoplasia (CHH) with Normal Vaccine Responses and T-Cell Proliferation to Pokeweed Mitogen
Erin L. Reigh, MD, MS Megan Cooper

713

Idiopathic CD4 Lymphocytopenia: Immunologic Characteristics, Clinical Manifestations, and Disease Course
Jenni Y. Yoon, MD Panida Sriaroon, MD Jennifer W. Leiding, MD Mark Ballow, MD FAAAAI

714

Efficacy of Recombinant Human Hyaluronidase-Facilitated Subcutaneous Infusion of Immunoglobulin G (IgG) (IGHy) in Patients with Primary Immunodeficiency Disease (PIDD): Infections over Time
Richard L. Wasserman, MD PhD FAAAAI Mark R. Stein, MD FAAAAI Lisa J. Kobrynski, MD MPH FAAAAI Sudhir Gupta, MD, PhD, FAAAAI J. Andrew Grant, MD, FAAAAI Arye Rubinstein, MD, FAAAAI Christopher J. Rabbat, PhD Werner Engl, PhD Barbara McCoy, PhD Heinz Leibl, PhD Leman Yel, MD, FAAAAI

715

Incidence of Clinically Diagnosed Digeorge Syndrome in Olmsted County, Minnesota
Cristina Alcaraz Jay Jin, MD PhD Erin Conboy Avni Y. Joshi, MD

716

Local Adverse Reaction Rates Decreased over Time during Treatment with Recombinant Human Hyaluronidase-Facilitated Subcutaneous Infusion of Immunoglobulin G (IGHy) in Patients with Primary Immunodeficiency Disorders in the IGHy Phase 3 Studies
Mark R. Stein, MD FAAAAI Richard L. Wasserman, MD PhD FAAAAI Isaac Melamed, MD Sudhir Gupta, MD, PhD, FAAAAI Lisa J. Kobrynski, MD MPH FAAAAI Arye Rubinstein, MD, FAAAAI Christopher J. Rabbat, PhD Werner Engl, PhD Barbara McCoy, PhD Heinz Leibl, PhD Leman Yel, MD, FAAAAI

717

Resolution of Primary Immune Defect in 22q11.2 Deletion Syndrome
Yiwa Suksawat, MD Jittima Veskitkul, MD Orathai Jirapongsananuruk, MD Nualanong Visitsunthorn, MD Pakit Vichyanond, MD FAAAAI Punchama Pacharn, MD

718

Real-World Use of Recombinant Human Hyaluronidase-Facilitated Subcutaneous Infusion of Immunoglobulin G (IG) (IGHy) in Patients with Primary Immunodeficiency Disorders (PIDD)
Kevin P. Rosenbach, MD, FAAAAI Stephanie Hughes, PharmD Leon Rozen, MBBS

719

Case Report of an Infant Female with X-Linked Chronic Granulomatous Disease Due to a De Novo Mutation in CYBB and Extremely Skewed X-Chromosome Inactivation (Lyonization)
Taylor Alberdi MR Morrow Jennifer W. Leiding, MD

720

Construction and Validation of a Health-Related Quality of Life (HR-QOL) Instrument for Patients with Primary Antibody Deficiency Disease.
Mark Ballow, MD FAAAAI Mark R. Conaway, PhD Rima A. Rachid, MD FAAAAI Filiz O. Seeborg, MD, MPH Panida Sriaroon, MD Carla M. Duff, CPNP MSN CCRP IgCN M. Elizabeth M. Younger, CRNP PhD Ralph Shapiro, MD Ted M. Burns

721

Efficacy, Safety, Tolerability, and Pharmacokinetics of Human Immune Globulin Subcutaneous, 20% (IGSC 20%): Final Analysis of a Phase 2/3 Study in Patients with Primary Immunodeficiency Disease (PIDD) in North America
Daniel Suez, MD, FAAAAI Isaac Melamed, MD Iftikhar Hussain, MD, FAAAAI Mark R. Stein, MD FAAAAI Sudhir Gupta, MD, PhD, FAAAAI Kenneth Paris, MD MPH Sandor Fritsch, PhD Christelle Bourgeois, PhD Heinz Leibl, PhD Barbara McCoy, PhD Leman Yel, MD, FAAAAI

722

Importance of Identifying Pathogenic Causes of Infection in Lung Abscess in Chronic Granulomatous Disease
Megan Goebel, MD Peter Mustillo, MD FAAAAI

723

Ataxia Telangiectasia Presenting with Absent IgG, IgA, and Elevated IgM
Michelle Korah-Sedgwick, MD Kenneth Paris, MD MPH

724

Successful Lung Transplant for Bronchiectasis in an Adult Male with Autosomal Recessive Chronic Granulomatous Disease with a Novel NF1 Gene Mutation.
Ryan B. Israelsen, MD Merritt L. Fajt, MD Maria M. Crespo, MD Andrej A. Petrov, MD

725

Prenatal Findings Leading to Early Diagnosis of X-Linked Inhibitor of Apoptosis Protein (XIAP) Deficiency
Angela Chang, MD Joseph Shieh, MD, PhD Morna J. Dorsey, MD MMSc FAAAAI Jennifer M. Puck, MD

726

Natural Killer (NK) Cell Deficiency: Clinical Phenotypes in Presence or Absence of Antibody Deficiency
Svjetlana Dolovcak, MD Nicholas L. Hartog, MD Zuhair K. Ballas, MD FAAAAI

727

Herpes Zoster Infection Prompting Diagnosis of Job's Syndrome in a Teenage Patient
Sheila M. Bina, MD Panida Sriaroon, MD Jennifer W. Leiding, MD

728

Transplant Outcomes for Primary Immunodeficiencies in a Tertiary Center 1995-2015
Nikita Raje, MD, MBBS Duha Al-Zubeidi Barbara Chignola, CCRC

729

Immune and Clinical Assessment in a Cohort of Pediatric Hispanic Patients with Partial Digeorge Syndrome: An Institutional Review.
Hanadys Ale, MD Raquel Olavarrieta, MD Zaimat Beiro, BS William R. Blouin, MSN ARNP CPNP Vivian P. Hernandez-Trujillo, MD FAAAAI Jose G. Calderon, MD

730

Removal of Immunosuppression Unmasks a Case of Autoimmune Lymphoproliferative Syndrome (ALPS)
Mirinda A. Gillespie, MD Sheila M. Bina, MD Jennifer W. Leiding, MD

731

Wiskott-Aldrich Syndrome in a Two-Month-Old Boy Presenting with Intussusception and Normal-Sized Platelets.
Vanessa L. Bundy, MD, PhD, FAAP Maria Garcia-Lloret, MD, FAAAAI