Results 1 to 10 of about 167,593 (141)

Two cases of combined immunodeficiency with ITPR3 mutations presenting with life-threatening severe EBV-associated hemophagocytic lymphohistiocytosis [PDF]

Frontiers in Immunology
IntroductionITPR3 encodes a subunit of the inositol 1,4,5-trisphosphate receptor (IP3R), which forms a Ca2+ channel on the endoplasmic reticulum (ER) membrane responsible for ER Ca2+ release.
Lang Yu, Lang Yu, Yulin Li, Yulin Li, Liwen Zhang, Liwen Zhang, Wenhui Li, Wenhui Li, Wenhui Li, Ming Sun, Yunfei An, Yunfei An, Yunfei An, Hao Xiong, Peina Jin, Xiaodong Zhao, Xiaodong Zhao, Xiaodong Zhao   +17 more
doaj   +2 more sources

Is Cauda Equina Involvement Related to BK Virus in Patients with Combined Immunodeficiency? [PDF]

Indian Journal of Radiology and Imaging
The BK virus, an unenveloped double-stranded DNA virus, infects up to 90% of the population, The virus often remains dormant but can reactivate and cause illness under conditions of impaired cellular immunity.
Gamze Sonmez, Fatma Naz Cemre Kalaycı, Rahsan Gocmen, Yasemin Ozsurekcı, Deniz Cagdas   +4 more
doaj   +2 more sources

Severe combined immunodeficiency with BCG-osis by salvage therapy with allogeneic hematopoietic stem cell transplantation: cases report and literature review. [PDF]

BMC Pediatr
Jiao Y, Li Q, Chen Z, Yang L, Wang Z, Tao F, Du Y, Xu X, Li Z, Xiong H.   +9 more
europepmc   +3 more sources

Identification of a splice site mutation in IL2RG in a Chinese boy with X-linked severe combined immunodeficiency. [PDF]

Genes Dis
Ding F, Zhang H, Liu X, Lei L, Zhang H, Liu Z, Fang M, Lu S.   +7 more
europepmc   +2 more sources

Severe gastrointestinal cytomegalovirus infection in a patient diagnosed with late onset combined immunodeficiency [PDF]

European Journal of Case Reports in Internal Medicine
Late onset combined immunodeficiency (LOCID) is a rare variant of common variable immunodeficiency (CVID), typically affecting adult patients who present with opportunistic infections (OI) and/or low CD4+ T lymphocytes.
Georgina Sauqué Pintos, Arnau Antolí Gil, Gemma Rocamora Blanch, Renzo Avila Espinoza, Rosario Taco Sánchez, Núria Sabé Fernández, Xavier Solanich Moreno   +6 more
doaj   +2 more sources

Successful bone marrow transplantation in a patient with Omenn syndrome, a rare variant of severe combined immunodeficiency syndrome: A case report. [PDF]

Clin Case Rep
Khan U, Umer M, Muhammad A, Iltaf A, Nashwan AJ.   +4 more
europepmc   +2 more sources

18q Deletion Syndrome Presenting with Late-Onset Combined Immunodeficiency. [PDF]

J Clin Immunol
Hashiguchi S, Tomomasa D, Nishikawa T, Ishikawa S, Akaike H, Kobae H, Shirai T, Nagao T, Noma K, Okada S, Kamuro K, Okamoto Y, Kanegane H.   +12 more
europepmc   +2 more sources

Severe combined immunodeficiency

Medical Journal of Dr. D.Y. Patil Vidyapeeth, 2021
5 month old female baby presented with cough followed by respiratory distress and not gaining weight. There was no history of fever, diarrhea or recurrent infections. Her elder brother died due to respiratory illness at the age of 8 months.
Sajan Sinha, Sayantani Nandi, Mrinal Kanti Das, Suprit Basu   +3 more
doaj   +1 more source

Identical Twins with a Mutation in the STK4 Gene Showing Clinical Manifestations of the Mutation at Different Ages: A Case Report [PDF]

Iranian Journal of Immunology, 2020
Combined immunodeficiencies (CIDs) are a heterogeneous group of disorders characterized by various gene mutations. The mutations in the STK4 (Serine Threonine Kinase 4) gene, which has a role in the regulation of apoptosis and proliferation, can be a ...
Farhad Abolnezhadian, Sara Iranparast, Fatemeh Ahmadpour   +2 more
doaj   +1 more source

Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB

Frontiers in Cellular and Infection Microbiology, 2021
ObjectiveThis study presents a relatively rare case of disseminated Talaromyces marneffei (T. marneffei) infection in an HIV-negative patient.MethodsAn 8-month-old girl was hospitalized because of uncontrollable fever and cough for 6 days.
Xiaofang Ding, Han Huang, Lili Zhong, Min Chen, Fang Peng, Bing Zhang, Xinyu Cui, Xiu-An Yang   +7 more
doaj   +1 more source