The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Chronic diarrhea | Very frequent (present in 80%-99% of cases) |
| Failure to thrive | Very frequent (present in 80%-99% of cases) |
| Fever | Very frequent (present in 80%-99% of cases) |
| Recurrent respiratory infections | Very frequent (present in 80%-99% of cases) |
| Sepsis | Very frequent (present in 80%-99% of cases) |
| Severe combined immunodeficiency | Very frequent (present in 80%-99% of cases) |
| Alopecia | Frequent (present in 30%-79% of cases) |
| Lymphopenia | Frequent (present in 30%-79% of cases) |
| Skin rash | Frequent (present in 30%-79% of cases) |
| Abnormality of the dentition | Occasional (present in 5%-29% of cases) |
| Chronic otitis media | Occasional (present in 5%-29% of cases) |
| Hepatomegaly | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Recurrent urinary tract infections | Occasional (present in 5%-29% of cases) |
| Sensorineural hearing impairment | Occasional (present in 5%-29% of cases) |
| Splenomegaly | Occasional (present in 5%-29% of cases) |
Diagnosis can be confirmed by blood tests. Blood tests show significantly lower-than-normal levels of T
Since there are other conditions that can result in lower-than-normal numbers of the different types of
Immunoglobulin levels are usually very low in SCID. Most commonly (but not always), all immunoglobulin classes are depressed (IgG, IgA, IgM and IgE).
The diagnosis of SCID can also be made before the baby is born if there has been another infant in the family with the disorder and if the
Early diagnosis, before the infant has had a chance to develop any infections, is very valuable since bone marrow transplants given in the first three months of life have a 94% success rate. In fact,
For further details on diagnosis see the following Web pages:
The Primary Immunodeficiency Resource Center provides further details regarding diagnosis of SCID.
An article from Medscape Reference provides detailed information on the diagnosis of SCID. You may need to register to view the article, but registration is free.
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Don’t Miss the NCATS Toolkit for Patient-Focused Therapy Development Event
August 31, 2017
Funding Opportunities Now Available for the Undiagnosed Diseases Network (UDN) Phase II
August 30, 2017
IRDiRC Goals 2017-2027: New Rare Disease Research Goals for the Next Decade
August 10, 2017
From a Single Genetic Mutation, Secrets of ‘Boy in the Bubble’ Disease Revealed
January 5, 2017
The Jak/Stat Pathway: 20 Years from Discovery to Drugs
Thursday, September 22, 2011 -
Saturday, September 24, 2011
Location: NIH Natcher Center,
Bethesda,
MD
Description: As a scientific conference, the primary goal is the dissemination of recent data and developments in the field to intersted researchers in the field. The conference includes a scientific program and reception, which will help to foster collaboration and networking. Participants should achieve a better understanding of the state of the art research in this exciting and clinically relevant field.
Contact: Megan Laycock,(301) 594-7527Megan.laycock@nih.gov
Co-funding Institute(s): National Institute of Arthritis and Musculoskeletal and Skin Diseases, Office of Rare Diseases Research
- 49KB)
Primary Immune Deficiency Treatment Consortium (PIDTC) Scientific Workshop
Thursday, April 7, 2011 -
Saturday, April 9, 2011
Location:
San Francisco,
CA
Description: This was a 3-day meeting. Participation at the workshop was by invitation and included representatives from each of the centers participating at PIDTC as well as representatives of CIBMTR, USIDNET, NIAID, ORDR, EBMT, and ESID. This was meant to favor collaboration and promote international collaborative trials in the field of these rare disorders. Special attention was paid to invitation of young investigators at a senior stage in their training or at the beginning of their academic careers. The meeting was open to representatives of the patient advocacy groups that are active in the field of primary immune deficiencies (PIDs) with the intent of promoting communication and collaboration. The results of the meeting will be published in a peer-reviewed journal.
Contact: Nancy Coulter,(301) 496-1886, ncoulter@niaid.nih.gov
Co-funding Institute(s): National Institute of Allergy and Infectious Diseases, Office of Rare Diseases Research
- 183KB)
Fifth International Meeting of Gene and Cell Therapies for Arthritis and Related Diseases
Tuesday, April 29, 2008 -
Thursday, May 1, 2008
Location: Bell Harbor Conference Center,
Seattle,
WA
Description: The goals of this meeting were to share advances in cellular biology that offer the opportunity to harness regulatory immune cells to combat autoimmune disease, to harness the use of multipotent progenitor cells to augment tissue regeneration and repair, and to accelerate the development of molecular and cellular therapies for rheumatologic and orthopaedic disorders. The GTARD conference series was initiated 9 years ago as a dedicated forum for investigators performing research in these areas to review and discuss scientific progress and to share ideas and technologies. Proceedings from the first three meetings have been published and proceedings from the 2006 meeting are currently in revision. The proceedings from this meeting will be similarly published.
Contact: Dr. Theresa Smith, NIAMS(301) 435-5595smiththe@mail.nih.gov
Co-funding Institute(s): National Institute of Arthritis and Musculoskeletal and Skin Diseases
The following diseases are related to Severe combined immunodeficiency. If you have a question about any of these diseases, you can contact GARD.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
In the case of X-linked SCID, if a girl has SCID it means she inherited a defective X gene from both parents. But if the father has a defective X gene, he would have to be affected with SCID. How can a father just be a carrier in the case of an affected daughter? And what is the risk in a subsequent pregnancy to have SCID if both parents are carriers? Is it possible for a male to be a carrier? See answer
My baby has low CD3 and CD4 cells. I have consulted a hematologist and was told it is doubtful my baby has SCID. When can we consider it is SCID? See answer
