SCID

10/27/2021

According to US CDC guidelines, severely immunocompromised people may get a fourth COVID-19 vaccine six months after their third dose.

According to the CDC, small studies have found that fully vaccinated immunocompromised people accounted for about 44% of the breakthrough cases that led to hospitalization. And one Johns Hopkins University study found that vaccinated immunocompromised people were 485 times more likely than most vaccinated people to be hospitalized with COVID-19 or die from the disease.

People with health conditions that make them moderately or severely immunocompromised may get a fourth mRNA Covid-19 shot, according to updated CDC guidelines.

07/20/2021

CDC to Consider Third COVID-19 Vaccine Dose for Immunocompromised

Booster shots? Pfizer-BioNTech said last week it would seek EUA for a third shot of its two-dose vaccine
vaccine

Giving a third dose of COVID-19 vaccines to immunocompromised will be discussed by U.S. Centers for Disease Control and Prevention advisory panel meeting next week.

At the meeting scheduled for July 22, the Advisory Committee on Immunization Practices will focus on the 2 to 4 percent of U.S. adults with weakened immune systems.

03/30/2021

A way to restore immune function in infants with one form of SCID!

Newborn screening of TREC is now used in the US to detect severe combined immunodeficiency before infections occur . But that still leaves us with the need for effective treatment.

Treating infants with X-linked severe combined immunodeficiency with low-dose chemotherapy followed by gene therapy gave the children the ability to make the cells needed to mount a normal immune response, in the New England Journal of Medicine. The finding marks a milestone in the long effort to use gene therapy for the devastating condition, also known as bubble boy disease, which requires untreated patients to be isolated in order to protect them from life-threatening infections. Experts caution that longer follow-up is needed to determine whether the gene therapy–treated patients are truly cured.

They were able to remove the protective isolation within three to four months post gene therapy and send the babies home to their families. They are all toddlers now, exploring life, attending daycare.

People with severe combined immunodeficiency (SCID) have mutations in genes needed for immune cell function, leaving them vulnerable to infection. In the most common form of the disease, X-linked SCID (SCID-X1), the gene at fault is IL2RG, which codes for a piece of the cytokine receptors needed for the normal development of several different kinds of immune cells, including T cells, B cells, and natural killer cells.

The standard treatment for the condition is a transplant of bone marrow tissue that can make normal immune cells, but finding an immunological match for patients can be a challenge.

But, only about 20 percent of SCID-X1 patients have a matched sibling, and receiving a transplant from another donor carries a risk of graft-versus-host disease.

Efforts to treat SCID-X1 with gene therapy began two decades ago. While they initially produced promising results, the earliest therapies appeared to cause leukemia in some patients.

The gene therapy in the new study delivers a functioning copy of IL2RG into patients’ extracted bone marrow cells using a lentiviral vector modeled on HIV’s shell. The IL2RG sequence comes with an insulator sequence at the end designed to prevent it from turning on nearby genes in the area of the genome it lands in, given that switching on the wrong gene could lead to cancer.

In addition to using a different vector from previous gene therapies, the study protocol called for a novel step, devised by researchers at the University of California, San Francisco (UCSF): pretreatment of patients with a low dose of the chemotherapy drug busulfan, which kills off immune precursors. Its aim was to create space around the bone marrow for the gene-edited cells to get in and take hold.

Ten infants were treated in the study, half at UCSF and half at St. Jude’s (the study reports results for the first eight). They ranged in age from 2–14 months at the time of treatment, and none had a matched sibling donor available. Doctors extracted bone marrow cells from each patient and sent them to a lab at St. Jude’s for editing. They then treated the babies with one to two doses of busulfan, and injected the gene-edited cells back into them.

The researchers monitored levels of the patients’ immune cells for a median of 16 months; all but one of the first eight saw climbing levels of T cells, B cells, and natural killer cells following the treatment. (The nonresponsive patient was re-treated with the gene therapy, which increased his T cell count.) Four of the patients received vaccinations against tetanus, diphtheria, pertussis, polio, and pneumonia, although only two of those infants mounted a normal immune response to all of the vaccines, as measured by counts of cells and other markers in their blood

Researchers report they’ve found a way to restore immune function in infants with one form of "bubble boy disease."

09/04/2020

Kathleen E Sullivan, MD, PhD, of Children's Hospital of Philadelphia, Chief of the Division of Allergy and Immunology and recipient of the 2017 Boyle Scientific Achievement Award from the Immune Deficiency Foundation leads a presentation on newborn screening along with Marianne Anzabi, RN, .. What is SCID, how to diagnose SCID, as well as practical aspects about delivering care to a patient that has a positive newborn screen for SCID.

Kathleen E Sullivan, MD, PhD, and Marianne Anzabi, RN, CPN, of Children's Hospital of Philadelphia, present on newborn screening – what it is and isn’t and h...

08/12/2020

In Memoriam:

Dr. Noel R. Rose, 1927-2020

Co-founder of CIS, and a prominent researcher in the field of clinical immunology, passed away on Thursday, July 30th, 2020 at the age of 92 at his home in Brookline, Massachusetts. Dr. Rose, along with Dr. John Fahey, conceived CIS at a luncheon at Johns Hopkins in 1986.

Dr. Rose was born in Stamford, Connecticut, on December 3, 1927. His mother was a teacher and his father, a physician. He received his BS in Zoology in 1948 from Yale University, a PhD in medical microbiology from University of Pennsylvania in 1951, and his MD in 1964 from the State University of New York, Buffalo.

Dr. Rose made one of the greatest discoveries in immunology --the genetic basis of autoimmune disease. His research lab showed for the first time that the major histocompatibility complex (MHC) contains the key genes, which determine the risk for all autoimmune disease.

From 1982 until 1993, Dr. Rose was Professor and Chair of the Department of Immunology and Infectious Diseases at Johns Hopkins.

He directed the Johns Hopkins Center for Autoimmune Disease Research, which he founded in 1999.

In 1991, Dr. Rose and Dr. Virginia T. Ladd founded the American Autoimmune Related Diseases Association, the primary research and advocacy forum for autoimmune diseases. This organization has worked closely with the Johns Hopkins University Autoimmune Disease Research Clinic. For 20 years, Dr. Rose chaired the AARDA’s scientific committee, and was instrumental in developing the biennial Noel R. Rose Scientific Colloquium, which convenes leading researchers in autoimmune and related diseases.

His numerous recognitions and accolades include the Abbot Award; Professional Recognition Award and Founder’s Distinguished Service Award from the American Society for Microbiology; Ernest Lyman Stebbins Medal from Johns Hopkins Bloomberg School of Public Health, which is the Bloomberg School’s most prestigious award; Nikolaus Copernicus Medal from the Polish Academy of Sciences; the Presidential Award from the Clinical Immunology Society, and the Golden Goose Award from the American Association for the Advancement of Science. He is justifiably recognized as the “Father of Autoimmunity.”

Dr. Rose has inspired several generations of public health students, clinicians and scientists worldwide, and he embodied the spirit of science and progress in public health and medicine.

08/10/2020

We want to provide you with new information from IDF!

One of the biggest things that IDF has done this year is to create a whole new program and website for patients/families with SCID. The following link to the SCID website has a wealth of information.

There are also videos, recorded IDF Forums, blogs, updates and more regarding COVID-19 in the COVID-19 portal.

Also see the new IDF Spanish Link that contains all kinds of information of PI information in Spanish:

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05/16/2020

Book summary of baby that needs bone marrow transplant (not for SCID) explains mom’s feelings over a sick child. (mother is author, Heather Harpham)

When Amelia was born on March 30, 2001, she looked perfectly healthy; but hours after her birth, doctors realized something was malfunctioning in her blood. She had her first transfusion within the first week of her life, and it would be the start of a scary routine that spanned her next three years. Unable to produce sufficient red blood cells, the baby needed transfusions about every three weeks.

After each transfusion, Amelia would look pink and healthy. But that energy would drain like a battery, and she would turn wan and listless until the next one. The family was told that becoming reliant on transfusions could eventually prove lethal.

Doctors were certain of one thing: Amelia would be cured by a bone marrow transplant.

Hers was a harrowing experience riddled with frightening prognoses and statistics. One doctor predicted she had only a 50 percent chance of living past the age of 29. Her mother, Heather Harpham, has chronicled it all in a memoir, “Happiness: The Crooked Little Road to Semi-Ever After”

Amelia-Grace Harpham is a 16-year-old with wild, wavy hair and a love of reading. She prefers sci-fi shows like “Dr. Who” and “Star Trek” to the usual teen fare. And the rising junior at Hastings H…

03/31/2020

Coronavirus (Covid-19) and IDF

This is an extraordinarily difficult time that has left many of us asking, “What more can I do? How can I help?” IDF is about to start a COVID-19 & PI survey project that is anticipated to run throughout the pandemic; there is an urgent need to understand the impact on those with PI. The project...

03/23/2020

CORONAVIRUS UPDATE

It is believed but not proven that people with PID are more vulnerable to COVID-19. Therefore, patients must be vigilant and take every precaution, especially if they live in areas where there are many cases of COVID-19.

Patients should remain on current therapies/medications unless their doctor who has expertise in primary immunodeficiency disease recommends a change.
Patients should keep handy the details of their primary immunodeficiency disease diagnosis, medical charts, and medications, as well how to reach their PID expert doctor and an emergency contact.

It is not recommended that PID patients without COVID-19 symptoms or limited symptoms get tested for the virus. In most nations, people with chronic illness – including PID – are not being treated or managed differently than the rest of the population.

Patients who get sick with a suspected infection should quickly call their doctor. If a patient consults a general practitioner, the patient should also ensure that he or she coordinates with their specialist in primary immune deficiency disease.

03/12/2020

Global Level 3 Health Advisory - Reconsider Travel - ESPECIALLY RELEVANT FOR IMMUNE DEFICIENCY PATIENTS

The Department of State advises U.S. citizens to reconsider travel abroad due to the global impact of COVID-19. Many areas throughout the world are now experiencing COVID-19 outbreaks and taking action that may limit traveler mobility, including quarantines and border restrictions.Even countries, jurisdictions, or areas where cases have not been reported may restrict travel without notice.

For the latest information regarding COVID-19, please visit the Centers for Disease Control and Prevention¿s (CDC) website.

You are encouraged to visit travel.state.gov to view individual Travel Advisories for the most urgent threats to safety and security.Please also visit the website of the relevant U.S. embassy or consulate to see information on entry restrictions, foreign quarantine policies, and urgent health information provided by local governments.

Travelers are urged to enroll in the Smart Traveler Enrollment Program (STEP) to receive Alerts and make it easier to locate you in an emergency.The Department uses these Alerts to convey information about terrorist threats, security incidents, planned demonstrations, natural disasters, etc.In an emergency, please contact the nearest U.S. Embassy or Consulate or call the following numbers: 1(888) 407-4747 (toll-free in the United States and Canada) or 1 (202) 501-4444 from other countries or jurisdictions.

If you decide to travel abroad:

Review and follow the CDC¿s guidelines for the prevention of coronavirus.
Check with your airlines or cruise lines regarding any updated information about your travel plans and/or restrictions.
Visit travel.state.gov to view individual Travel Advisories for the most urgent threats to safety and security.
Visit our Embassy webpages on COVID-19 for information on conditions in each country or jurisdiction.
Visit the Department of Homeland Security¿s website on the latest travel restrictions to the U.S.

Links to external websites are provided as a convenience and should not be construed as an endorsement by the U.S. Department of State of the views or products contained therein. If you wish to remain on travel.state.gov, click the "cancel" message.

03/12/2020

Many of the inquiries that we’re receiving are related to individual situations about medications or medical care. These inquiries should always be directed to a physician. The IDF team is following the situation very closely and will continue to provide updates as needed. At the current time, all...

03/11/2020

Coronavirus update ;

Joint statement on the current epidemics of new Coronavirus SARS-CoV-2 — COVID-19
From IPOPI, ESID, INGID, APSID, ARAPID, ASID, CIS, LASID, SEAPID (2020, 11th March).

The recommendations for Immunodeficiency patients:

There is currently no data pointing to whether PID patients are actually at higher risk of more severe disease from COVID-19 (as per the WHO, CDCs and PID expert healthcare professionals and NMO representatives along with patients themselves).

However, it is believed that PID patients might be at higher risk for this infection or a more severe course of the disease. Thus, patients with PID need to take extra care to prevent from getting this infection.

Patients with PID living in areas of high prevalence should take every precautions and adhere to local, regional and national recommendations (staying at home, teleconsultation, work from home, etc..).

However, for PID patients, beyond the precautions mentioned above, we advise prompt phone contact with a doctor if an infection is suspected (should it be your PID expert, or your GP who should let your PID expert know about your condition in order to provide the best advice for each PID patient’s specific condition). Patients should always keep the details of their PID diagnosis and medical charts, medications, PID expert doctor and next of kin at hand, in case urgent medical care is needed.

PID patients with lung and/or heart complications, solid organ transplants PID patients recipients, recent recipients of hematopoietic stem cell transplantation or gene therapy, PID patients undergoing treatment for a cancer (malignancy), as well as patients under immunosuppressive or immunomodulatory drugs (for autoimmune or inflammatory or autoinflammatory complicating the PID course) should remain on their specific therapy until recommended otherwise by their PID expert physician. Immunosuppressive drugs (in particular corticosteroids), might limit signs of infections (fever and other clinical symptoms). It is this recommended to contact your PID expert physician in case of unexplained change in clinical status including your well-being.

PID patients with significant respiratory issues (severe asthma, bronchiectasis or chronic respiratory failure) should receive special attention (as for any risk of respiratory infection).

Keep in mind that it is always essential to regularly continue to take the treatment for your PID.

Plasma Derived Medicinal Products (PDMPs), such as immunoglobulins (IVIG or SCIG) are safe and will protect you from many other infections.

For everyone, including PID patients, we strongly recommend you to keep aware of the latest information on the COVID-19 outbreak in your region, for example provided by the World Health Organization (WHO), the European Centre for Disease Prevention and Control (ECDC) and by your national and local public health authorities.

Plasma Derived Medicinal Products (PDMPs), including Immunoglobulins
According to a statement from Plasma Protein Therapeutics Association (PPTA) there is no risk of transmission of COVID-19 into PDMPs.

For PID patients who are on immunoglobulin replacement therapy, there is no evidence to date that more frequent dosing of immunoglobulin will offer more protection. Whilst immunoglobulin replacement therapy provides protection against a range of infections, it does not guarantee immunity against coronavirus.

For PID patients whose condition does not require to be under regular Ig replacement therapy, there is no need to start Ig since there should be no antibodies targeting COVID-19 is expected to be contained in the existing preparations.

There is no recommendation to give immunoglobulins to the general population to protect or treat people against COVID-19.

We should stress the fact that only your PID expert would know best what to recommend to you.