Editors

Ivan K Chinn

Baylor College of Medicine

Neil Romberg

Children's Hospital of Philadelphia

Henner Morbach

Department of Pediatrics, University Hospital Würzburg

Impact

Case Report

24 October 2019

Vasculitis in a Child With the Hyper-IgM Variant of Ataxia-Telangiectasia

Anna K. Meyer

, 5 more and

Jordan K. Abbott

5,147 views

8 citations

Case Report

15 October 2019

Rare TACI Mutation in a 3-Year-Old Boy With CVID Phenotype

Lucia Leonardi

, 5 more and

Marzia Duse

4,677 views

2 citations

Case Report

30 July 2019

Novel Heterozygous Mutation in NFKB2 Is Associated With Early Onset CVID and a Functional Defect in NK Cells Complicated by Disseminated CMV Infection and Severe Nephrotic Syndrome

Alejandra Aird

, 13 more and

Maria Cecilia Poli

6,459 views

29 citations

Case Report

05 July 2019

Arthritis in Two Patients With Partial Recombination Activating Gene Deficiency

Kevin Y. Wu

, 11 more and

Jolan E. Walter

2,532 views

8 citations

Case Report

14 May 2019

Hematopoietic Stem Cell Transplant for the Treatment of X-MAID

Sarah E. Henrickson

, 6 more and

Jennifer R. Heimall

4,420 views

14 citations

Case Report

30 April 2019

Gain-of-Function STAT1 Mutation With Familial Lymphadenopathy and Hodgkin Lymphoma

Sarah E. Henrickson

, 7 more and

Jennifer R. Heimall

3,228 views

11 citations

Case Report

24 April 2019

Familial Immune Thrombocytopenia Associated With a Novel Variant in IKZF1

Panida Sriaroon

, 7 more and

Attila Kumánovics

2,669 views

18 citations

Case Report

24 April 2019

A Novel STAT3 Mutation in a Qatari Patient With Hyper-IgE Syndrome

Natalia S. Chaimowitz

, 8 more and

Tiphanie P. Vogel

4,231 views

8 citations

Case Report

16 April 2019

Combined Immunodeficiency With Late-Onset Progressive Hypogammaglobulinemia and Normal B Cell Count in a Patient With RAG2 Deficiency

Mayra B. Dorna

, 8 more and

Jolan E. Walter

4,589 views

10 citations

Case Report

05 April 2019

Two Unique Cases of X-linked SCID: A Diagnostic Challenge in the Era of Newborn Screening

Pooja Purswani

, 25 more and

Jolan E. Walter

8,869 views

13 citations

Case Report

29 March 2019

Treatment-Responsive Granulomatous-Lymphocytic Interstitial Lung Disease in a Pediatric Case of Common Variable Immunodeficiency

Robert Tillman

, 3 more and

Ivan K. Chinn

4,366 views

13 citations

Case Report

28 March 2019

A Novel Mutation in Chronic Granulomatous Disease: Treating the Family, Not Just the Patient

Kristen Lutzkanin

, 2 more and

Doerthe Adriana Andreae

3,440 views

3 citations

Case Report

19 March 2019

Severe Facial Herpes Vegetans and Viremia in NFKB2-Deficient Common Variable Immunodeficiency

Karyn Parsons

, 6 more and

Karin Chen

7,146 views

16 citations

Case Report

31 January 2019

Papulopustular Dermatitis in X-Linked Chronic Granulomatous Disease

Puja Sood Rajani

and

Maria A. Slack

4,292 views

3 citations

Original Research

21 January 2019

Failing to Make Ends Meet: The Broad Clinical Spectrum of DNA Ligase IV Deficiency. Case Series and Review of the Literature

Aidé Tamara Staines Boone

, 13 more and

Saul Oswaldo Lugo Reyes

9,173 views

39 citations

Case Report

18 January 2019

Lymphopenia With Clinical and Laboratory Features of Combined Immune Deficiency in an 11-Year-Old Female With FANCD2 Variants and Fanconi Anemia

Roman Deniskin

, 2 more and

Nicholas L. Rider

3,013 views

2 citations

Case Report

18 December 2018

Evaluation of Lymphoproliferative Disease and Increased Risk of Lymphoma in Activated Phosphoinositide 3 Kinase Delta Syndrome: A Case Report With Discussion

Michele N. Pham

and

Charlotte Cunningham-Rundles

3,404 views

14 citations

Correction

23 November 2018

Corrigendum: A Novel Homozygous JAK3 Mutation Leading to T-B+NK- SCID in Two Brazilian Patients

Lucila A. Barreiros

, 5 more and

Antonio Condino-Neto

1,428 views

3 citations

Original Research

16 October 2018

Clinical, Laboratory, and Molecular Characteristics and Remission Status in Children With Severe Congenital and Non-congenital Neutropenia

Ruo-Lan Gong

, 1 more and

Tong-Xin Chen

2,865 views

10 citations

Case Report

11 September 2018

A C126R de novo Mutation in CYBB Leads to X-linked Chronic Granulomatous Disease With Recurrent Pneumonia and BCGitis

Jose Antonio Tavares de Albuquerque

, 6 more and

Antonio Condino-Neto

2,367 views

4 citations

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Meaningful Cases of Primary Immunodeficiencies: Volume 2

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