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Year Number of Results
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596 results

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Quoted phrase not found in phrase index: "Immune deficiency, familial variable"
Page 1
Ataxia telangiectasia: a review.
Rothblum-Oviatt C, Wright J, Lefton-Greif MA, McGrath-Morrow SA, Crawford TO, Lederman HM. Rothblum-Oviatt C, et al. Orphanet J Rare Dis. 2016 Nov 25;11(1):159. doi: 10.1186/s13023-016-0543-7. Orphanet J Rare Dis. 2016. PMID: 27884168 Free PMC article. Review.
CLINICAL DESCRIPTION: A-T is a complex disorder with substantial variability in the severity of features between affected individuals, and at different ages. ...GENETIC COUNSELING: Genetic counseling can help family members of a patient with A-T understand when gene …
CLINICAL DESCRIPTION: A-T is a complex disorder with substantial variability in the severity of features between affected individuals …
Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Thaventhiran JED, Lango Allen H, Burren OS, Rae W, Greene D, Staples E, Zhang Z, Farmery JHR, Simeoni I, Rivers E, Maimaris J, Penkett CJ, Stephens J, Deevi SVV, Sanchis-Juan A, Gleadall NS, Thomas MJ, Sargur RB, Gordins P, Baxendale HE, Brown M, Tuijnenburg P, Worth A, Hanson S, Linger RJ, Buckland MS, Rayner-Matthews PJ, Gilmour KC, Samarghitean C, Seneviratne SL, Sansom DM, Lynch AG, Megy K, Ellinghaus E, Ellinghaus D, Jorgensen SF, Karlsen TH, Stirrups KE, Cutler AJ, Kumararatne DS, Chandra A, Edgar JDM, Herwadkar A, Cooper N, Grigoriadou S, Huissoon AP, Goddard S, Jolles S, Schuetz C, Boschann F; Primary Immunodeficiency Consortium for the NIHR Bioresource; Lyons PA, Hurles ME, Savic S, Burns SO, Kuijpers TW, Turro E, Ouwehand WH, Thrasher AJ, Smith KGC. Thaventhiran JED, et al. Nature. 2020 Jul;583(7814):90-95. doi: 10.1038/s41586-020-2265-1. Epub 2020 May 6. Nature. 2020. PMID: 32499645 Free PMC article.
Although the most severe forms of PID are identified in early childhood, most patients present in adulthood, typically with no apparent family history and a variable clinical phenotype of widespread immune dysregulation: about 25% of patients have autoimmune …
Although the most severe forms of PID are identified in early childhood, most patients present in adulthood, typically with no apparent f …
Measuring the effect of newborn screening on survival after haematopoietic cell transplantation for severe combined immunodeficiency: a 36-year longitudinal study from the Primary Immune Deficiency Treatment Consortium.
Thakar MS, Logan BR, Puck JM, Dunn EA, Buckley RH, Cowan MJ, O'Reilly RJ, Kapoor N, Satter LF, Pai SY, Heimall J, Chandra S, Ebens CL, Chellapandian D, Williams O, Burroughs LM, Saldana BD, Rayes A, Madden LM, Chandrakasan S, Bednarski JJ 2nd, DeSantes KB, Cuvelier GDE, Teira P, Gillio AP, Eissa H, Knutsen AP, Goldman FD, Aquino VM, Shereck EB, Moore TB, Caywood EH, Lugt MTV, Rozmus J, Broglie L, Yu LC, Shah AJ, Andolina JR, Liu X, Parrott RE, Dara J, Prockop S, Martinez CA, Kapadia M, Jyonouchi SC, Sullivan KE, Bleesing JJ, Chaudhury S, Petrovic A, Keller MD, Quigg TC, Parikh S, Shenoy S, Seroogy C, Rubin T, Decaluwe H, Routes JM, Torgerson TR, Leiding JW, Pulsipher MA, Kohn DB, Griffith LM, Haddad E, Dvorak CC, Notarangelo LD. Thakar MS, et al. Lancet. 2023 Jul 8;402(10396):129-140. doi: 10.1016/S0140-6736(23)00731-6. Epub 2023 Jun 20. Lancet. 2023. PMID: 37352885
BACKGROUND: Severe combined immunodeficiency (SCID) is fatal unless durable adaptive immunity is established, most commonly through allogeneic haematopoietic cell transplantation (HCT). The Primary Immune Deficiency Treatment Consortium (PIDTC) explored factors affe …
BACKGROUND: Severe combined immunodeficiency (SCID) is fatal unless durable adaptive immunity is established, most commonly through allogene …
T-cell immunodeficiencies.
Elder ME. Elder ME. Pediatr Clin North Am. 2000 Dec;47(6):1253-74. doi: 10.1016/s0031-3955(05)70270-4. Pediatr Clin North Am. 2000. PMID: 11130995 Review.
T-cell immune defects include most inherited immunodeficiencies diagnosed in childhood. Most cellular immunodeficiencies have associated humoral defects with variable clinical and laboratory features. The underlying gene defects are now known for most inherited T-ce …
T-cell immune defects include most inherited immunodeficiencies diagnosed in childhood. Most cellular immunodeficiencies have associa …
Ataxia telangiectasia.
Crawford TO. Crawford TO. Semin Pediatr Neurol. 1998 Dec;5(4):287-94. doi: 10.1016/s1071-9091(98)80007-7. Semin Pediatr Neurol. 1998. PMID: 9874856 Free article. Review.
The cloning of ATM in 1995, the gene responsible for ataxia-telangiectasia, opened a dimension of biological research that is as complex and intriguing to cell biologists as this classic disorder has been to clinicians for four decades. The phenotype is both variable and s …
The cloning of ATM in 1995, the gene responsible for ataxia-telangiectasia, opened a dimension of biological research that is as complex and …
Hereditary angioedema in children and adolescents.
Mansour E, Veronez CL, Craig T, Grumach AS. Mansour E, et al. Allergol Immunopathol (Madr). 2022 Apr 7;50(S Pt 1):1-6. doi: 10.15586/aei.v50iSP1.535. eCollection 2022. Allergol Immunopathol (Madr). 2022. PMID: 35726485
Hereditary angioedema is a genetic disease with autosomal dominant inheritance and, in most cases, caused by C1 inhibitor deficiency. Patients present with recurrent edema affecting sub-cutaneous and mucus membranes with variable onset and severity. More than 50% of …
Hereditary angioedema is a genetic disease with autosomal dominant inheritance and, in most cases, caused by C1 inhibitor deficiency. …
X-linked agammaglobulinemia.
Timmers E, de Weers M, Alt FW, Hendriks RW, Schuurman RK. Timmers E, et al. Clin Immunol Immunopathol. 1991 Nov;61(2 Pt 2):S83-93. doi: 10.1016/s0090-1229(05)80042-x. Clin Immunol Immunopathol. 1991. PMID: 1934617 Review.
These cytoplasmatic C mu+ pre-B lymphocytes appear to express truncated M heavy chain molecules lacking the variable region segment. The T lymphocyte compartment is intact: the numbers of mature T cell receptor (TcR) alpha beta expressing T lymphocyte populations and their …
These cytoplasmatic C mu+ pre-B lymphocytes appear to express truncated M heavy chain molecules lacking the variable region segment. …
Genetics of breast cancer.
Greene MH. Greene MH. Mayo Clin Proc. 1997 Jan;72(1):54-65. doi: 10.4065/72.1.54. Mayo Clin Proc. 1997. PMID: 9005288 Review.
Familial breast cancer is characterized by young age at diagnosis, an increased risk of bilateral breast cancer, an increasing risk in conjunction with increasing numbers of affected family members, and a strong association with ovarian cancer. ...Mutations in the a …
Familial breast cancer is characterized by young age at diagnosis, an increased risk of bilateral breast cancer, an increasing risk i …
Common variable immune deficiency: reviews, continued puzzles, and a new registry.
Cunningham-Rundles C, Knight AK. Cunningham-Rundles C, et al. Immunol Res. 2007;38(1-3):78-86. doi: 10.1007/s12026-007-0024-0. Immunol Res. 2007. PMID: 17917013 Review.
Common variable immune deficiency (CVID) is a clinically and immunologically heterogenous primary immune deficiency first described more than 50 years ago. ...In most cases, no other family members have any immune defect. The mean …
Common variable immune deficiency (CVID) is a clinically and immunologically heterogenous primary immune defi …
Clinical and immunological characteristics of 69 leukocyte adhesion deficiency-I patients.
Fazlollahi MR, Hamidieh AA, Moradi L, Shokouhi Shoormati R, Sabetkish N, Esmaeili B, Badalzadeh M, Alizadeh Z, Shamlou S, Movahedi M, Mahloujirad M, Razaghian A, Arshi S, Gharagozlou M, Kalantari A, Bemanian MH, Safari M, Heidarzadeh Arani M, Nabavi M, Parvaneh N, Sadeghi-Shabestari M, Behfar M, Behniafard N, Sherkat R, Ahmadian Heris J, Shariat M, Radmehr R, Houshmand M, Kazemnejad A, Molitor A, Carapito R, Bahram S, Pourpak Z, Moin M. Fazlollahi MR, et al. Pediatr Allergy Immunol. 2023 Jul;34(7):e13990. doi: 10.1111/pai.13990. Pediatr Allergy Immunol. 2023. PMID: 37492921
CONCLUSION: Physicians' awareness of LAD-I considering delayed separation of umbilical cord marked neutrophilic leukocytosis, and variability in CD11 and CD18 expression levels, and genetic analysis leads to early diagnosis and defining disease severity. Moreover, the pren …
CONCLUSION: Physicians' awareness of LAD-I considering delayed separation of umbilical cord marked neutrophilic leukocytosis, and variabi …
596 results