Treatment Of Severe Combined Immunodeficiency Disease Research Articles

Clinical analysis of 10 cases of severe combined immunodeficiency disease

Objective To improve the pediatrician′s understanding of severe combined immunodeficiency disease (SCID), so as to strengthen the early diagnosis and treatment of SCID. Methods The clinical manifestations, related immunological findings, imaging findings and outcomes of 10 SCID children admitted to our hospital from 2007 to 2018 were retrospectively analyzed. Results The clinical manifestations of primary SCID were frequent infections shortly after birth.There were 8 males and 2 females in this study.The average age of onset was 4.2 months, and the average age of diagnosis was 6 months.Eight cases of thymus shadow were absent, 9 cases of pulmonary CT showed severe pneumonia, and 3 cases of pulmonary fungal infection.Six of 7 children died of infection and the age of death was less than 1 year old.Laboratory examination showed that 10 patients had abnormal cell and humoral immune function; 10 cases of CD3+ T cells were 85%, 7 cases ≤ 2%.There was an increase in B cell reactivity of 7 cases, but the secretion of immunoglobulin in 5 cases was significantly reduced.Seven cases of IgG 2.0 g/L.Eight cases were confirmed of the primary SCID by genetic testing. Conclusion The clinical manifestations of SCID are frequent bacterial, viral and fungal infections in a short time after birth.In clinical work, when small infants are repeatedly infected after birth, or multiple sites are seriously infected and prolonged, we must think of the possibility of SCID and timely related immune function tests, strive to achieve early diagnosis, timely treatment, and early bone marrow stem cell transplantation. Key words: Severe combined immunodeficiency disease; Children,

The Natural History of Children with Severe Combined Immunodeficiency Disease (SCID): The First Fifty Patients of the Primary Immune Deficiency Treatment Consortium (PIDTC) Prospective Study 6901

The PIDTC consists of 32 centers in North America that care for patients with PID. The 6901 study's hypothesis is that the analysis of uniform data on patients with SCID will identify those variables that contribute to the best outcomes following treatment. We report baseline clinical, immunologic & genetic features of the 1st 50 patients enrolled & the initial therapies that they received, to summarize for the first time the current practice in the diagnosis & treatment of SCID. From 8/2010 - 5/2012 patients with suspected SCID underwent work-up and therapy per local center practices. After consent, diagnostic information was reviewed by the eligibility and stratification panel. Stratum A is classic SCID. Stratum B is leaky SCID, Omenn Syndrome or Reticular Dysgenesis. HCT details were obtained from the CIBMTR. Presenting features of the 1st 50 patients are shown (Table). 92% had mutations in a known SCID gene. Those diagnosed by newborn screen (NBS) or family history (FH) were younger than those diagnosed by clinical signs (median 15 vs. 181 days; P ≤ 0.0001) and went to HCT at a median of 67 days vs. 214 days (P ≤ 0.0001), though there was no difference in time from diagnosis to HCT (median 56 vs. 43 days; P = 0.28). 92% were treated with HCT at a median of 25 days from diagnosis for matched related (n = 7) or 29 days mismatched related (n = 12) donors, vs. 61 days for unrelated adult (n = 13) or 60 days for cord blood (n = 14) donors (P = 0.02). Conditioning was none (n = 10), serotherapy alone (n = 4); reduced intensity (n = 9), or myeloablative (n = 23). 3 patients were treated with gene therapy & 1 with enzyme-replacement. Future directions include continued enrollment with a goal of >250 patients & analysis of short and long-term outcomes of therapy to identify which factors are beneficial or deleterious to survival, T- and B-cell reconstitution & clinical outcome after treatment for SCID & what biomarkers are predictive of these outcomes.TableFeatures at DiagnosisStratum AStratum Bn = 37n = 13Age, days34 (0 - 304)74 (0 - 4916)Gender (M / F)28 / 94 / 9Trigger of Dx FH27%15% NBS32%8% Infection38%54% Other3%23%Maternal Engraftment53%0%Autoimmunity3%42%FTT24%33%ALC1175 (3 - 10120)1078 (700- 3700)CD36 (0-8898)1918 (45 - 6589) CD44 (0 - 1307)474 (31 - 2138) CD4/CD45RA0 (0 - 57)43 (0 - 474) CD4/CD45RO1 (0 - 155)1035 (196 - 1975) CD84 (0 - 750)78 (0 - 900) PHA (% lower limit nl)0 (0 - 20)12 (0 - 126) TRECs (#/uL)0 (0 - 11)0B Cells: B+ Phenotype1171 (164 - 3847); n = 292 (0 - 822) B- Phenotype7 (0 - 186); n = 8 IgG (mg/dL), pre-IVIG539 (0 - 928)608 (371 - 1030) IgM (mg/dL)10 (0 - 89)13 (0 - 95) IgA (mg/dL)7 (0 - 25)7 (0 - 165) IgE (IU/mL)2 (0 - 79)445 (0 - 20400)NK Cells: NK+ Phenotype266 (28 - 939); n = 12282 (32 - 734) NK- Phenotype16 (0 - 407); n = 25IL-2RG190JAK321RAG-1/257Artemis01IL-7R30CD3d30ADA30AK201Unknown13Numbers = median (range); Cells = (x 106/L) Open table in a new tab