scholarly journals Mutation analyses and prenatal diagnosis in families of X-linked severe combined immunodeficiency caused by IL2Rγ gene novel mutation

2015 ◽  
Vol 14 (2) ◽  
pp. 6164-6172 ◽  
Author(s):  
Q.L. Bai ◽  
N. Liu ◽  
X.D. Kong ◽  
X.J. Xu ◽  
Z.H. Zhao
Keyword(s):  
Prenatal Diagnosis ◽  
Novel Mutation ◽  
Severe Combined Immunodeficiency ◽  
Combined Immunodeficiency ◽  
Mutation Analyses

Identification of a novel mutation in ZAP70 and prenatal diagnosis in a Turkish family with severe combined immunodeficiency disorder

Gene ◽  
2013 ◽  
Vol 512 (2) ◽  
pp. 189-193 ◽  
Author(s):  
Ender Karaca ◽  
Elif Karakoc-Aydiner ◽  
Omer Faruk Bayrak ◽  
Sevgi Keles ◽  
Serhat Sevli ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Novel Mutation ◽  
Severe Combined Immunodeficiency ◽  
Combined Immunodeficiency ◽  
Immunodeficiency Disorder ◽  
Turkish Family

scholarly journals Severe Combined Immunodeficiency Disorder due to a Novel Mutation in Recombination Activation Gene 2: About 2 Cases

2021 ◽  
Vol 2021 ◽  
pp. 1-5
Author(s):  
Ibtihal Benhsaien ◽  
Fatima Ailal ◽  
Khadija Elazhary ◽  
Jalila El bakkouri ◽  
Abdallah Badou ◽  
...  
Keyword(s):  
Opportunistic Infections ◽  
Novel Mutation ◽  
Severe Combined Immunodeficiency ◽  
Failure To Thrive ◽  
Lymphocyte Subpopulation ◽  
Combined Immunodeficiency ◽  
Hematopoietic Stem ◽  
Her Family ◽  
First Case ◽  
Rag2 Gene

Severe combined immunodeficiency (SCID) comprises a heterogeneous group of inherited immunologic disorders with profound defects in cellular and humoral immunity. SCID is the most severe PID and constitutes a pediatric emergency. Affected children are highly susceptible to bacterial, viral, fungal, and opportunistic infections with life-threatening in the absence of hematopoietic stem cell transplantation. We report here two cases of SCID. The first case is a girl diagnosed with SCID at birth based on her family history and lymphocyte subpopulation typing. The second case is a 4-month-old boy with a history of recurrent opportunistic infections, BCGitis, and failure to thrive, and the immunology workup confirms a SCID phenotype. The genetic study in the two cases revealed a novel mutation in the RAG2 gene, c.826G > A (p.Gly276Ser), in a homozygous state. The novel mutation in the RAG2 gene identified in our study may help the early diagnosis of SCID.

Prenatal diagnosis of severe combined immunodeficiency

1982 ◽  
Vol 101 (6) ◽  
pp. 995-997 ◽  
Author(s):  
A. Durandy ◽  
D. Guy-Grand ◽  
C. Oury ◽  
R. Henrion ◽  
C. Griscelli
Keyword(s):  
Prenatal Diagnosis ◽  
Severe Combined Immunodeficiency ◽  
Combined Immunodeficiency

PRENATAL DIAGNOSIS OF SEVERE COMBINED IMMUNODEFICIENCY

The Lancet ◽  
1982 ◽  
Vol 319 (8281) ◽  
pp. 1130 ◽  
Author(s):  
David Linch ◽  
Peter Beverley ◽  
Roland Levinsky ◽  
Charles Rodeck
Keyword(s):  
Prenatal Diagnosis ◽  
Severe Combined Immunodeficiency ◽  
Combined Immunodeficiency

Immunodeficiency and severe gastrointestinal manifestations in a patient with novel DKC1 mutations causing Hoyeraal–Hreidarsson syndrome

2016 ◽  
Vol 3 (3) ◽  
pp. 119-126 ◽  
Author(s):  
Nufar Marcus
Keyword(s):  
Case Report ◽  
Cell Function ◽  
Novel Mutation ◽  
Severe Combined Immunodeficiency ◽  
Compound Heterozygous Mutation ◽  
Heterozygous Mutation ◽  
Compound Heterozygous ◽  
Combined Immunodeficiency ◽  
Gastrointestinal Manifestations ◽  
Over Time

Background: Hoyeraal–Hreidarsson syndrome (HHS) is considered a clinically severe variant of dyskeratosis congenita (DKC) and represents the extreme phenotype caused by aberrant telomere biology. Unlike patients with DKC who present later in life, most cases of HHS present in the first years of life. Clinical features include intrauterine growth restriction and microcephaly, which are universal but not pathognomonic, as well as gastrointestinal, immunological and neurological manifestations. The immunological profile is varied as a result of cellular immunodeficiency, humoral defects, or both, and may be the presenting symptom of these patients. Moreover, the immunological phenotype can change over time, making HHS a diagnostic challenge. Methods: This case report highlights the clinical presentation and immune investigations of a male patient with a novel mutation in DKC1, causing HHS. Results: Here, we describe a patient with HHS who presented with Pneumocystis jiroveci pneumonia and low T cells, which is typical of severe combined immunodeficiency. Over time, he developed agammaglobulinemia whereas T-cell function improved. He also presented with extremely severe gastrointestinal manifestations, and died at 3 years of age. Conclusion: This case report highlights a novel compound heterozygous mutation in DKC1, and the need to consider HHS as the differential diagnosis of patients with combined immunodeficiency. Statement of novelty: The case reports on a novel mutation in DKC1.

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