نتائج البحث

Purine nucleoside phosphorylase (PNP) deficiency: across-the-board severe combined immunodeficiency.

• Authors : Chohayeb, Engy A.¹ (AUTHOR) ; Lotfy, Sohilla¹ (AUTHOR); El Hawary, Rabab E.² (AUTHOR)

Subjects: *SEVERE combined immunodeficiency; *HEMATOPOIETIC stem cell transplantation; *FRAMESHIFT mutation

• Source: Egyptian Journal of Medical Human Genetics. 9/20/2024, Vol. 25 Issue 1, p1-11. 11p.

تفاصيل العنوان

Quality considerations and major pitfalls for high throughput DNA-based newborn screening for severe combined immunodeficiency and spinal muscular atrophy.

• Authors : Bzdok, Jessica^1,2 (AUTHOR) ; Czibere, Ludwig² (AUTHOR); Burggraf, Siegfried² (AUTHOR)

Subjects: *SEVERE combined immunodeficiency; *SPINAL muscular atrophy; *NEWBORN screeningGERMANY

• Source: PLoS ONE. 6/28/2024, Vol. 19 Issue 6, p1-18. 18p.

تفاصيل العنوان

Development of a novel rodent model for dog heartworm microfilaremia using the severe-combined immunodeficiency mouse.

• Authors : Mizuseki, Mihoko¹ (AUTHOR); Ikeda, Nao¹ (AUTHOR); Shirozu, Takahiro¹ (AUTHOR)

• Source: Scientific Reports. 6/14/2024, Vol. 14 Issue 1, p1-11. 11p.

تفاصيل العنوان

Lentiviral Gene Transfer for Treatment of Children Older Than Two Years of Age With X-Linked Severe Combined Immunodeficiency (XSCID)

• Source: Lentiviral Gene Transfer for Treatment of Children Older Than 2 Years of Age With X-Linked Severe Combined

تفاصيل العنوان

Haplocompatible Transplant Using TCRα/β Depletion Followed by CD45RA-Depleted Donor Lymphocyte Infusions for Severe Combined Immunodeficiency (SCID)

• Source: Haplocompatible Transplant Using TCRα/β Depletion Followed by CD45RA-Depleted Donor Lymphocyte Infusions for Severe Combined

تفاصيل العنوان

Genetic Analysis Reveals A Missense Mutation In Reactivation Gene-2 (RAG2) Causing Severe Combined Immunodeficiency Disease In A Pakistani Family.

• Authors : Awais, Shahida¹; Siddique, Lubna²; Shafi, Nida³

• Source: Journal of Rawalpindi Medical College. Apr-Jun2024, Vol. 28 Issue 2, p322-326. 5p.

تفاصيل العنوان

A novel 268 kb deletion combined with a splicing variant in IL7R causes of severe combined immunodeficiency in a Chinese family: a case report.

• Authors : Yan, Lulu¹ (AUTHOR); He, Yan² (AUTHOR); Zhang, Yuxin¹ (AUTHOR)

• Source: BMC Medical Genomics. 12/11/2023, Vol. 16 Issue 1, p1-7. 7p.

تفاصيل العنوان

Purine nucleoside phosphorylase (PNP) deficiency: across-the-board severe combined immunodeficiency

• Authors : Engy A. Chohayeb; Sohilla Lotfy; Rabab E. El Hawary

Subjects: Hematopoietic stem cell transplantation (HSCT); Inborn errors of immunity (IEI); Purine nucleoside phosphorylase deficiency (PNP)

• Source: Egyptian Journal of Medical Human Genetics, Vol 25, Iss 1, Pp 1-11 (2024)

تفاصيل العنوان

Gene Transfer for X-Linked Severe Combined Immunodeficiency in Newly Diagnosed Infants (LVXSCID-ND)

• Authors : National Heart, Lung, and Blood Institute (NHLBI); Assisi Foundation; California Institute for Regenerative Medicine (CIRM)

• Source: A Pilot Feasibility Study of Gene Transfer for X-Linked Severe Combined Immunodeficiency in Newly Diagnosed

تفاصيل العنوان

Immune Reconstitution Inflammatory Syndrome-Like Reaction During the Treatment of Pneumocystis jirovecii Pneumonia in an Infant With Severe Combined Immunodeficiency.

• Authors : Ching-Yu Lin¹; Sung-Min Lim²; Soo-Yeon Kim¹

• Source: Pediatric Infection & Vaccine. Apr2024, Vol. 31 Issue 1, p130-135. 6p.

تفاصيل العنوان