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                             21 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 A Novel Combination of Compound Heterozygous Variants in IFNGR1 Causing Complete IFNGR1 Deficiency Labere, Brenna

44 5 artikel
2 Assessment of Sleep Disorders in Patients with CVID Punj, Mantavya

44 5 artikel
3 Delayed Presentation of IRAK4 Deficiency Sacta, Maria A.

44 5 artikel
4 Development of EBV Related Diffuse Large B-cell Lymphoma in Deficiency of Adenosine Deaminase 2 with Uncontrolled EBV Infection Gardner, Logan S.

44 5 artikel
5 Expression of full-length FOXP3 exceeds other isoforms in thymus and stimulated CD4 + T cells Kröger, Benita

44 5 artikel
6 Fatal Disseminated Hepatitis E in an Adult Patient with IKBKB GOF Mutation Hanitsch, Leif G.

44 5 artikel
7 Functional Validation of a COPA Mutation Broadens the Spectrum of COPA Syndrome Kechiche, Robin

44 5 artikel
8 Gérard Orth: From Viral to Human Genes Underlying Warts Casanova, Jean-Laurent

44 5 artikel
9 Identification and Functional Analysis of a de novo IKZF3 Mutation in a Pediatric Patient with Combined Immunodeficiency Shi, Xiaoqi

44 5 artikel
10 Immune Thrombocytopenic Purpura (ITP) and Chorioretinopathy in Chronic Granulomatous Disease: A Case Report Khanmohammadi, Shaghayegh

44 5 artikel
11 Immunological Aspects of Kabuki Syndrome: A Retrospective Multicenter Study of the Italian Primary Immunodeficiency Network (IPINet) Rossini, Linda

44 5 artikel
12 Inherited CARD9 Deficiency Due to a Founder Effect in East Asia Tomomasa, Dan

44 5 artikel
13 Monitoring of Adverse Events and Safety in Autoinflammatory Diseases: Real-Life Data from the Eurofever Registry Vyzhga, Yulia

44 5 artikel
14 Perspective - Was it All for Nothing? Somech, Raz

44 5 artikel
15 Qualitative Immunoglobulin Deficiency Causes Bacterial Infections in Patients with STAT1 Gain-of-Function Mutations Chen, Ran

44 5 artikel
16 RAS-associated Autoimmune Leukoproliferative Disease (RALD-KRAS) Consistent with the Clinical Diagnosis of Rosai-Dorfman Disease: A 15-year Follow-up Tang, Yu

44 5 artikel
17 Severe Tick-Borne Encephalitis (TBE) in a Patient with X-Linked Agammaglobulinemia; Treatment with TBE Virus IgG Positive Plasma, Clinical Outcome and T Cell Responses Hedin, Wilhelm

44 5 artikel
18 T-cell Defects in a Patient with NFKBIA Gene Mutation Wu, Jing

44 5 artikel
19 Treatment with Elapegademase Restores Immunity in Infants with Adenosine Deaminase Deficient Severe Combined Immunodeficiency Hicks, Elizabeth Daly

44 5 artikel
20 Validation of Risk Factors for Early Mortality in Cartilage-Hair Hypoplasia Vakkilainen, Svetlana

44 5 artikel
21 Very-early-onset Inflammatory Bowel Disease in an Infant with a Partial RIPK1 Deletion Tuna Kırsaçlıoğlu, Ceyda

44 5 artikel
                             21 gevonden resultaten
 
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