CASE REPORT
Published on 04 May 2018
A Novel de Novo Mutation in the CD40 Ligand Gene in a Patient With a Mild X-Linked Hyper-IgM Phenotype Initially Diagnosed as CVID: New Aspects of Old Diseases
doi 10.3389/fped.2018.00130
- 4,320 views
- 18 citations
- Frontiers in Pediatrics
- Pediatric Immunology
- Research Topics
- Meaningful Cases of Primary Immunodeficiencies
Meaningful Cases of Primary Immunodeficiencies
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Articles
CASE REPORT
Published on 18 Jul 2017
T-Cell Lymphopenia Detected by Newborn Screening in Two Siblings with an Xq13.1 Duplication
doi 10.3389/fped.2017.00156
- 4,321 views
- 2 citations
CASE REPORT
Published on 19 Jun 2017
Infusion of Sibling Marrow in a Patient with Purine Nucleoside Phosphorylase Deficiency Leads to Split Mixed Donor Chimerism and Normal Immunity
doi 10.3389/fped.2017.00143
- 2,675 views
- 17 citations
CASE REPORT
Published on 15 May 2017
Changes in Frequency and Activation Status of Major CD4+ T-Cell Subsets after Initiation of Immunosuppressive Therapy in a Patient with New Diagnosis Childhood-Onset Systemic Lupus Erythematosus
doi 10.3389/fped.2017.00104
- 2,293 views
- 8 citations
CASE REPORT
Published on 03 May 2017
Multifocal Recurrent Osteomyelitis and Hemophagocytic Lymphohistiocytosis in a Boy with Partial Dominant IFN-γR1 Deficiency: Case Report and Review of the Literature
doi 10.3389/fped.2017.00075
- 3,576 views
- 26 citations
CASE REPORT
Published on 02 May 2017
Dysplasia of Granulocytes in a Patient with HPV Disease, Recurrent Infections, and B Lymphopenia: A Novel Variant of WHIM Syndrome?
doi 10.3389/fped.2017.00095
- 3,087 views
- 2 citations
CASE REPORT
Published on 28 Apr 2017
IRAK4 Deficiency in a Patient with Recurrent Pneumococcal Infections: Case Report and Review of the Literature
doi 10.3389/fped.2017.00083
- 8,192 views
- 28 citations
CASE REPORT
Published on 19 Apr 2017
Immunodeficiency-Associated Lymphoid Hyperplasia As a Cause of Intussusception in a Case of Activated PI3K-δ Syndrome
doi 10.3389/fped.2017.00071
- 2,556 views
- 13 citations
CASE REPORT
Published on 17 Mar 2017
A 3-Year-Old Girl with Recurrent Infections and Autoimmunity due to a STAT1 Gain-of-Function Mutation: The Expanding Clinical Presentation of Primary Immunodeficiencies
doi 10.3389/fped.2017.00055
- 3,167 views
- 12 citations
CASE REPORT
Published on 13 Mar 2017
Up, Down, and All Around: Diagnosis and Treatment of Novel STAT3 Variant
doi 10.3389/fped.2017.00049
- 7,621 views
- 25 citations
CASE REPORT
Published on 28 Feb 2017
DOCK 8 Deficiency, EBV+ Lymphomatoid Granulomatosis, and Intrafamilial Variation in Presentation
doi 10.3389/fped.2017.00038
- 3,974 views
- 20 citations
CASE REPORT
Published on 27 Feb 2017
Humoral Immunodeficiency with Hypotonia, Feeding Difficulties, Enteropathy, and Mild Eczema Caused by a Classical FOXP3 Mutation
doi 10.3389/fped.2017.00037
- 3,151 views
- 7 citations
Published in
Frontiers in Pediatrics
- Pediatric Immunology
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- 56kTopic views
- 42kArticle views
- 11kArticle downloads