Q42-130:Clinical Features Assessed between Diagnosis and the Start of the Preparative Regimen

Infections identified between Diagnosis and the Start of the Preparative Regimen

Specify the presence of all clinically significant infections identified between diagnosis and the start of the preparative regimen. For the purposes of this form, clinically significant infections are those that require treatment such as antibiotics, antivirals, etc. Only report an organism once, even if it was identified at the same site in subsequent infections.

Question 42: Hepatitis

Hepatitis refers to inflammation (acute or chronic) of the liver with infectious or noninfectious etiologies. Hepatitis symptoms can include abdominal pain, jaundice, nausea, and vomiting. Laboratory tests such as aminotransferase (ALT/AST) and bilirubin measurements may be performed to monitor hepatic function. These lab values are frequently elevated in patients with hepatitis.

Indicate if the recipient developed infectious hepatitis. If “yes” continue with question 43. If “no” continue with question 46.

Question 43: Organism

Select the identified or suspected infectious organism as reported on the microbiology report, laboratory report, or other physician documentation causing the hepatitis reported in question 42. If no organism was identified select the “No organism identified” option from the bottom of the list. If the organism was identified but is not listed, select the corresponding “Other, specify” option (i.e. other Chlamydia, other mycobacterium, other bacteria, etc.). Specify the organism in the open field provided in question 44. If multiple organisms were identified, add additional instances for questions 43-44 and specify the other organism(s). Continue with question 45.

Question 45: If hepatitis was present, was it a prominent feature of WAS?

If infectious hepatitis was present, indicate if it was a prominent feature of WAS. A prominent feature is generally well documented, closely followed, and treated. Continue with question 46.

Question 46: Meningitis / encephalitis

Meningitis is an inflammation of the meninges, membranes encasing the central nervous system. Encephalitis is inflammation of the brain tissue itself. Meningitis and encephalitis may co-occur as meningoencephalitis. Common symptoms include headache, lethargy, confusion, fever, neck stiffness, and cranial nerve defects.

Indicate if the recipient developed infectious meningitis / encephalitis. If “yes” continue with question 47. If “no” continue with question 50.

Question 47: Organism

Select the identified or suspected infectious organism as reported on the microbiology report, laboratory report, or other physician documentation causing the meningitis / encephalitis reported in question 46. If no organism was identified select the “No organism identified” option from the bottom of the list. If the organism was identified but is not listed, select the corresponding “Other, specify” option (i.e. other Chlamydia, other mycobacterium, other bacteria, etc.). Specify the organism in the open field provided in question 48. If multiple organisms were identified, add additional instances for questions 47-48 and specify the other organism(s). Continue with question 49.

Question 49: If meningitis / encephalitis was present, was it a prominent feature of WAS?

If meningitis / encephalitis was present, indicate if it was a prominent feature of WAS. A prominent feature is generally well documented, closely followed, and treated. Continue with question 50.

Question 50: Pneumonia

Pneumonia is a respiratory condition due to lung infection. Symptoms may include fever, cough, and difficulty breathing. Indicate “yes” if the recipient developed infectious pneumonia and continue with question 51. If the recipient did not have pneumonia, indicate “no” and continue with question 54.

Question 51: Organism

Select the identified or suspected infectious organism as reported on the microbiology report, laboratory report, or other physician documentation causing the pneumonia reported in question 50. If no organism was identified select the “No organism identified” option from the bottom of the list. If the organism was identified but is not listed, select the corresponding “Other, specify” option (i.e. other Chlamydia, other mycobacterium, other bacteria, etc.). Specify the organism in the open field provided in question 52. If multiple organisms were identified, add additional instances for questions 51-52 and specify the other organism(s). Continue with question 53.

Question 53: If pneumonia was present, was it a prominent feature of WAS?

If pneumonia was present, indicate if it was a prominent feature of WAS. A prominent feature is generally well documented, closely followed, and treated. Continue with question 54.

Question 54: Severe or protracted diarrhea

Protracted diarrhea (>10g/kg/24hrs) refers to three or more loose stools per day lasting longer than fourteen days.¹ Indicate whether the recipient had severe or protracted diarrhea. If “yes” continue with question 55. If “no” continue with question 58.

¹ Guandalini S. Diarrhea. Medscape. Updated 4/10/14

Question 55: Organism

Select the identified or suspected infectious organism as reported on the microbiology report, laboratory report, or other physician documentation causing the diarrhea reported in question 54. If no organism was identified select the “No organism identified” option from the bottom of the list. If the organism was identified but is not listed, select the corresponding “Other, specify” option (i.e. other Chlamydia, other mycobacterium, other bacteria, etc.). Specify the organism in the open field provided in question 56. If multiple organisms were identified, add additional instances for questions 55-56 and specify the other organism(s). Continue with question 57.

Question 57: If diarrhea was present, was it a prominent feature of WAS?

If diarrhea was present, indicate if it was a prominent feature of WAS. A prominent feature is generally well documented, closely followed, and treated. Continue with question 58.

Question 58: Systemic infection

A systemic infection is an infection isolated at 3 or more sites. Indicate whether the recipient had systemic infection. If “yes” continue with question 59. If “no” continue with question 62.

Question 59: Organism

Select the identified or suspected infectious organism as reported on the microbiology report, laboratory report, or other physician documentation causing the systemic infection reported in question 58. If no organism was identified select the “No organism identified” option from the bottom of the list. If the organism was identified but is not listed, select the corresponding “Other, specify” option (i.e. other Chlamydia, other mycobacterium, other bacteria, etc.). Specify the organism in the open field provided in question 60. If multiple organisms were identified, add additional instances for questions 59-60 and specify the other organism(s). Continue with question 61.

Question 61: If systemic infection was present, was it a prominent feature of WAS?

If systemic infection was present, indicate if it was a prominent feature of WAS. A prominent feature is generally well documented, closely followed, and treated. Continue with question 62.

Question 62: Other infection

Indicate if the recipient had an infection other than reported in questions 42-61. If “yes” continue with question 63. If “no” continue with question 67.

Question 63: Organism

Select the identified or suspected infectious organism as reported on the microbiology report, laboratory report, or other physician documentation causing the infection reported in question 62. If no organism was identified select the “No organism identified” option from the bottom of the list. If the organism was identified but is not listed, select the corresponding “Other, specify” option (i.e. other Chlamydia, other mycobacterium, other bacteria, etc.). Specify the organism in the open field provided in question 64. If multiple organisms were identified, add additional instances for questions 63-64 and specify the other organism(s). Continue with question 65.

Question 65: Specify other infection site

Specify the site of the infection reported in question 62. Continue with question 66.

Question 66: If other infection was present, was it a prominent feature of WAS?

If other infection was present, indicate if it was a prominent feature of WAS. A prominent feature is generally well documented, closely followed, and treated. Continue with question 67.

Clinical Status between Diagnosis and the Preparative Regimen

Question 67: Did the recipient undergo a splenectomy (between diagnosis and prior to the preparative regimen?

Destruction of platelets in the spleen is thought to play an important role in thrombocytopenia because corrections of platelet count and size have been reported after splenectomy.²

Indicate if the recipient underwent a splenectomy after diagnosis but prior to the preparative regimen. If “yes” continue with question 68. If “no” or “unknown” continue with question 70.

² Bosticardo M, Marangoni F, Aiuti A, et al. Recent advances in understanding the pathophysiology of Wiskott-Aldrich syndrome. Blood, 2009;113(25):6288-96.

Question 68: Specify the date the splenectomy was performed

Indicate the date of splenectomy and continue with question 69.

Question 69: Platelets (after splenectomy)

Report the platelet count and unit of measure after splenectomy as documented on the laboratory report. Indicate if platelets were transfused ≤ 7 days from the date of testing. If the platelet count was not tested leave the count and unit fields blank and indicate “Platelets not tested.” Continue with question 70.

Question 70: Were thrombocytopenia (<100 × 10⁹/L) and small platelets present without any other symptoms, clinical findings, or laboratory abnormalities attributable to WAS (between diagnosis and prior to the preparative regimen)?

Indicate if the recipient had microthrombocytopenia without any other symptoms, findings, or abnormalities attributable to WAS. This would occur in the setting of X-linked thrombocytopenia (XLT). Continue with question 71.

Question 71: Was eczema present as a clinical feature (between diagnosis and prior to the preparative regimen)?

Eczema is a skin disorder with an immunologic basis. It is characterized by itchy, dry skin, as well as thickening of the skin (lichenification) and may be indicative of the immune dysfunction associated with WAS.

Indicate if eczema was present as a clinical feature after diagnosis but prior to the preparative regimen. If “yes” continue with question 72. If “no” continue with question 73.

Question 72: Specify severity of eczema

Indicate the eczema severity based on its documented persistence and manageability in the opinion of the physician by selecting one of the following options: “mild, transient” “persistent but manageable” or “difficult to control.”

“Mild, transient” can be controlled with intermittent steroids, “persistent but manageable” with chronic topical steroid use, and “difficulty to control” requires systemic steroids, multiple topical therapies, or is refractory to treatment.

Question 73: Was a coexisting malignancy present (between diagnosis and prior to the preparative regimen)?

Indicate if the recipient had a coexisting malignancy after diagnosis but prior to the preparative regimen. If “yes” continue with question 74, if “no” or “unknown” continue with question 75.

Question 74: Specify malignancy

Specify the coexisting malignancy. Also, report the malignancy in the pre-TED Form 2400.

Question 75: Did the recipient experience any of the following types of bleeding episodes (between diagnosis and prior to the preparative regimen)?

Bleeding episodes are frequently observed due to WAS-associated thrombocytopenia. If nasal bleeds, gastrointestinal hemorrhage, hemarthrosis (bleeding into joints), hematuria (blood in the urine), intracranial hemorrhage, oral bleeding, subcutaneous bleeding, subdural hematoma, or other bleeding occurred after diagnosis but prior to the preparative regimen indicate “yes” and continue with question 76. If “no” continue with question 97.

Question 76: Is epistaxis present?

Indicate if epistaxis, bleeding from the nose, is present. If “yes” continue with question 77. If “no” continue with question 78.

Question 77: Is epistaxis prominent?

Indicate if epistaxis is prominent. A prominent feature is generally well documented, closely followed, and treated. Epistaxis may be recurrent, life-threatening, or require a transfusion. Continue with question 78.

Question 78: Is upper GI hemorrhage present?

Hemorrhage in the upper gastrointestinal tract includes bleeding that occurs above the duodenojejunal juncture of the small intestines. Signs of upper GI hemorrhage include vomiting blood (hematemesis) and black “tarry” stool (melena). As with other sources of blood loss, symptoms can include light headedness and fainting, weight loss, jaundice, and pain. Indicate if upper GI hemorrhage is present. If “yes” continue with question 79. If “no” continue with question 80.

Question 79: Is upper GI hemorrhage prominent?

Indicate if upper GI hemorrhage is prominent. A prominent feature is generally well documented, closely followed, and treated. Continue with question 80.

Question 80: Is lower GI hemorrhage/rectal bleeding present?

Hemorrhage in the lower gastrointestinal tract includes bleeding that occurs below the duodenojejunal juncture of the small intestines. Signs of lower GI hemorrhage include bright red blood in stool (hematochezia) and spontaneous rectal bleeding without defecation. Lower GI hemorrhage presents with symptoms similar to those associated with upper GI hemorrhage. Depending on the location and severity of hemorrhage, upper and lower GI bleeds may have similar presentations. Indicate if there is lower GI hemorrhage/rectal bleeding present. If “yes” continue with question 81. If “no” continue with question 82.

Question 81: Is lower GI hemorrhage/rectal bleeding prominent?

Indicate if lower GI hemorrhage/rectal bleeding is prominent. A prominent feature is generally well documented, closely followed, and treated. Continue with question 82.

Question 82: Is hemarthrosis present?

Hemarthrosis refers to bleeding into joint spaces leading to swelling and pain. Suspected hemarthrosis is often confirmed with a joint aspiration. Indicate if hemarthrosis is present. If “yes” continue with question 83. If “no” continue with question 84.

Question 83: Is hemarthrosis prominent?

Indicate if bleeding into joint spaces is prominent. A prominent feature is generally well documented, closely followed, and treated. Continue with question 84.

Question 84: Is hematuria present?

Hematuria refers to blood in the urine and can be further specified as gross hematuria or microscopic hematuria. Gross hematuria is visibly noticeable while microscopic hematuria is only apparent when examined with a microscope. Hematuria may either be asymptomatic or be associated with symptoms such as painful urination and changes in urination frequency. Indicate if hematuria is present. If “yes” continue with question 85. If “no” continue with question 86.

Question 85: Is hematuria prominent?

Indicate if blood in the urine is prominent. A prominent feature is generally well documented, closely followed, and treated. Continue with question 86.

Question 86: Is intracranial hemorrhage present?

Intracranial hemorrhage involves bleeding within the skull and may present with symptoms including nausea and vomiting, headache, and altered consciousness. CT scans and other imaging modalities are commonly used to visualize intracranial bleeding. Indicate if intracranial hemorrhage is present. If “yes” continue with question 87. If “no” continue with question 88.

!Although a subdural hematoma is a type of intracranial hemorrhage, do not report subdural hematoma in question 86. If a subdural hematoma is present, report it in question 92.

Question 87: Is intracranial hemorrhage prominent?

Indicate if intracranial hemorrhage is prominent. A prominent feature is generally well documented, closely followed, and treated. Continue with question 88.

Question 88: Is oral bleeding present?

Indicate if oral bleeding is present. If “yes” continue with question 89. If “no” continue with question 90.

Question 89: Is oral bleeding prominent?

Indicate if oral bleeding is prominent. A prominent feature is generally well documented, closely followed, and treated. Continue with question 90.

Question 90: Is subcutaneous bleeding present?

Indicate if there is bleeding under the skin, commonly identified by bruising (petechiae, purpura, ecchymosis). If “yes” continue with question 91. If “no” continue with question 92.

Question 91: Is subcutaneous bleeding prominent?

Indicate if bleeding under the skin is prominent. A prominent feature is generally well documented, closely followed, and treated. Continue with question 92.

Question 92: Is subdural hematoma present?

The dura mater is the outermost membrane that encloses the brain and spinal cord, keeping in the cerebrospinal fluid. A subdural hematoma is a collection of blood below the dura mater. Subdural hematoma symptoms include: headache, decreased consciousness, and motor deficits. CT scans are commonly used to visualize subdural bleeding. Indicate if a subdural hematoma is present. If “yes” continue with question 93. If “no” continue with question 94.

Question 93: Is subdural hematoma prominent?

Indicate if subdural hematoma is prominent. A prominent feature is generally well documented, closely followed, and treated. Continue with question 94.

Question 94: Is other bleeding present?

Indicate if bleeding other than listed in questions 76-93 is present. If “yes” continue with questions 95 and 96. If “no” continue with question 97.

Question 95: Is other bleeding prominent?

Indicate if other bleeding is prominent. A prominent feature is generally well documented, closely followed, and treated. Continue with question 96.

Question 96: Specify other bleeding?

Specify the type of other bleeding indicated in question 94. Continue with question 97.

Question 97: Did the recipient experience any of the following autoimmune / inflammatory disorders (between diagnosis and prior to the preparative regimen)?

Due to aberrant lymphocyte function associated with WAS, autoimmune and inflammatory disorders are common. Indicate “yes” if the recipient experienced autoimmune / inflammatory disorder(s) and continue with questions 98-129 to further specify the disorder(s). If “no” continue with question 130.

Question 98: Is arthralgia present?

Indicate if the recipient experienced joint pain. If “yes” continue with question 99. If “no” continue with question 100.

Question 99: Is arthralgia prominent?

Indicate if arthralgia is prominent. A prominent feature is generally well documented, closely followed, and treated. Continue with question 100.

Question 100: Is chronic arthritis present?

Chronic arthritis refers to persistent joint inflammation, leading to pain, swelling, and stiffness often with reduced movement. Indicate if chronic arthritis is present. If “yes” continue with question 101. If “no” continue with question 102.

Question 101: Is chronic arthritis prominent?

Indicate if chronic arthritis is prominent. A prominent feature is generally well documented, closely followed, and treated. Continue with question 102.

Question 102: Is autoimmune hemolytic anemia present?

Autoimmune hemolytic anemia refers to the destruction (hemolysis) of red blood cells by the recipient’s own immune system. Anemia results when the recipient’s marrow is unable to sufficiently produce replacement red blood cells. Laboratory studies are the most common method of disease detection, usually involving a complete blood cell count and peripheral blood smear. Indicate if autoimmune hemolytic anemia is present. If “yes” continue with question 103. If “no” continue with question 104.

Question 103: Is autoimmune hemolytic anemia prominent?

Indicate if autoimmune hemolytic anemia is prominent. A prominent feature is generally well documented, closely followed, and treated. Continue with question 104.

Question 104: Is idiopathic thrombocytopenic purpura (ITP) present?

ITP refers to decreased platelet counts with normal bone marrow and the absence of other thrombocytopenia causes. Before reporting ITP, ensure that the thrombocytopenia is a result of an autoimmune process rather than representative of WAS. Indicate if ITP is present. If “yes” continue with question 105, if “no” continue with question 106.

Question 105: Is idiopathic thrombocytopenic purpura (ITP) prominent?

Indicate if ITP is prominent. A prominent feature is generally well documented, closely followed, and treated. Continue with question 106.

Question 106: Is inflammatory bowel disease present?

Inflammatory bowel disease (IBD) is a general term referring to inflammation anywhere along the lining of the gastrointestinal tract. Ulcerative colitis and Crohn’s disease are the two major types of IBD and commonly manifest with abdominal cramping and abnormal bowel movements including constipation, diarrhea, and the passage of mucus and/or blood. Complete blood counts, stool studies, and serologic studies can be performed to better characterize symptoms and exclude other disorders on the differential diagnosis. Imaging studies, especially endoscopies are used to diagnosis and monitor IBD. Indicate if inflammatory bowel disease is present. If “yes” continue with question 107. If “no” continue with question 108.

Question 107: Is inflammatory bowel disease prominent?

Indicate if inflammatory bowel disease is prominent. A prominent feature is generally well documented, closely followed, and treated. Continue with question 108.

Question 108: Is juvenile rheumatoid arthritis present?

Juvenile rheumatoid arthritis is a condition of autoimmune joint inflammation causing joint pain, swelling, and stiffness, with childhood onset. Indicate if juvenile rheumatoid arthritis is present. If “yes” continue with question 109. If “no” continue with question 110.

Question 109: Is juvenile rheumatoid arthritis prominent?

Indicate if juvenile rheumatoid arthritis is prominent. A prominent feature is generally well documented, closely followed, and treated. Continue with question 110.

Question 110: Is nephritis present?

Nephritis refers to inflammation of the kidneys and may be further specified based on the area of kidney involvement and whether the inflammation is acute or chronic. Tests performed to assess and monitor kidney function include BUN and creatinine. In certain cases, a renal biopsy may be performed. Indicate if nephritis is present. If “yes” continue with question 111, if “no” continue with question 112.

Question 111: Is nephritis prominent?

Indicate if nephritis is prominent. A prominent feature is generally well documented, closely followed, and treated. Continue with question 112.

Question 112: Is neutropenia present?

Neutropenia refers to a decreased number of neutrophils in the blood (ANC < 1.0 × 10⁹/L). The risk of infection increases as the neutrophil count decreases. Indicate if the recipient is neutropenic. If “yes” continue with question 113, if “no” continue with question 114.

Question 113: Is neutropenia prominent?

Indicate if neutropenia is prominent. A prominent feature is generally well documented, closely followed, and treated. Continue with question 114.

Question 114: Is sclerosing cholangitis present?

Sclerosing cholangitis refers to inflammation and subsequent scarring and destruction of the bile ducts, eventually leading to liver damage. Imaging studies of the bile duct (cholangiography), as well as liver function tests such as aminotransferase and alkaline phosphatase are used to diagnose and monitor the disease. Indicate if sclerosing cholangitis is present. If “yes” continue with question 115, if “no” continue with question 116.

Question 115: Is sclerosing cholangitis prominent?

Indicate if sclerosing cholangitis is prominent. A prominent feature is generally well documented, closely followed, and treated. Continue with question 116.

Question 116: Is cerebral vasculitis present?

Vasculitis refers to inflammation of the vasculature, including both veins and arteries. Vasculitis may impact blood vessels of any size, from capillaries and arterioles to the great truncal vessels. It is typically caused by autoimmunity.

Cerebral vasculitis refers to inflammation involving vasculature of the brain. Indicate if the recipient had cerebral vasculitis. If “yes” continue with question 117, if “no” continue with question 118.

Question 117: Is cerebral vasculitis prominent?

Indicate if cerebral vasculitis is prominent. A prominent feature is generally well documented, closely followed, and treated. Continue with question 118.

Question 118: Is coronary vasculitis present?

Coronary vasculitis refers to inflammation involving vasculature of the heart. Indicate if coronary vasculitis is present. If “yes” continue with question 119, if “no” continue with question 120.

Question 119: Is coronary vasculitis prominent?

Indicate if coronary vasculitis is prominent. A prominent feature is generally well documented, closely followed, and treated. Continue with question 120.

Question 120: Is renal vasculitis present?

Renal vasculitis refers to inflammation involving vasculature of the kidney. Indicate if renal vasculitis is present. If “yes” continue with question 121, if “no” continue with question 122.

Question 121: Is renal vasculitis prominent?

Indicate if renal vasculitis is prominent. A prominent feature is generally well documented, closely followed, and treated. Continue with question 122.

Question 122: Is skin vasculitis present?

Indicate if the recipient has inflammation involving vasculature of the skin. If “yes” continue with question 123, if “no” continue with question 124.

Question 123: Is skin vasculitis prominent?

Indicate if skin vasculitis is prominent. A prominent feature is generally well documented, closely followed, and treated. Continue with question 124.

Question 124: Is other vasculitis present?

Indicate if other types of vasculitis are present than those listed in questions 116-123. If “yes” continue with question 125, if “no” continue with question 127.

Question 125: Is other vasculitis prominent?

Indicate if other vasculitis is prominent. A prominent feature is generally well documented, closely followed, and treated. Continue with question 126.

Question 126: Specify other vasculitis

Specify the other vasculitis indicated in question 124. Continue with question 127.

Question 127: Other disorder

Indicate if the recipient had an autoimmune / inflammatory disorder not listed in questions 98-126. If “yes” continue with question 128, if “no” continue with question 130.

Question 128: Is any other disorder prominent?

Indicate if the other disorder from question 128 is prominent. A prominent feature is generally well documented, closely followed, and treated. Continue with question 129.

Question 129: Specify other disorder

Specify the other disorder indicated in question 127. Continue with question 130.

Questions 130-143: Were any biologic specimens collected for this recipient (between the date of diagnosis and the preparative regimen)?

Indicate whether biologic specimens were collected for this recipient. Biologic specimens may be collected for more in-depth analyses and for research purposes. Different types of cells, for example B cells and T cells, can be isolated from whole blood and viral-transformed to establish permanent cell lines.

If “yes” continue with questions 131-143 and specify which specimens were collected, if “no” or “unknown” continue with “Signature Lines.”

Section Updates:

Question Number	Date of Change	Add/Remove/Modify	Description	Reasoning (If applicable)
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