Primary Immunodeficiencies Patient Information Instructions: The accurate interpretation and reporting of genetic results is contingent upon the reason for referral, clinical information, ethnic background, and family history. To help provide the best possible service, supply the information requested below and send paperwork with the specimen, or return by fax to Mayo Clinic Laboratories, Attn: Personalized Genomics Laboratory Genetic Counselors at 507-284-1759. Phone: 507-266-5700 / International clients: +1-507-266-5700 or email [email protected] Patient Information Patient Name (Last, First, Middle) Birth Date (mm-dd-yyyy) Sex Male Female Referring Provider Name (Last, First) Phone Fax* Other Contact Name (Last, First) Phone Fax* *Fax number given must be from a fax machine that complies with applicable HIPAA regulations. Reason for Testing Diagnosis Newborn Screening Follow-up Carrier Testing Family History Note: Genetic testing should always be initiated on an affected family member first, when available, in order to be most informative for at-risk relatives. Indications Check all that apply. Autoinflammatory Inflammatory Bowel Disease/ Severe Combined Immunodeficiency Periodic fever Enteropathy/Hepatic PID Severe combined immunodeficiency (SCID) Familial Mediterranean fever (FMF) Chronic IBD-like disorder and CID Combined immunodeficiency (CID) Hyper IgD syndrome Ulcerative colitis T-cell lymphopenia/deficiency Cryopyrin-associated periodic Crohn disease (T-, B-, NK-) SCID (ADA-SCID; syndromes (CAPS) Enteropathy, hypogammaglobulinemia, Reticular dysgenesis) Blau syndrome autoinflammation, and autoimmunity (T-, B-, NK+) SCID PAPA syndrome IBD, lymphadenopathy (VDJ recombination defects; CID) PFAPA syndrome Veno-occlusive disease (T-, B+, NK-) SCID TRAPS (TNF-receptor-associated (in context of PID; VODI) (X-linked SCID; JAK3 SCID) periodic syndromes) NRH (nodular regenerative (T-, B+, NK+) SCID (T-cell SCID) PLAID/APLAID hyperplasia) Severe, recurrent EBV infections/ Amylopectinosis and autoinflammation ENB lymphoproliferative disease Majeed syndrome; CRMO Phagocytic PID/ CD4+ or CD8+ T-cell deficiency or absence Other inflammasome-related disorders Chronic Granulomatous Disease of MHC class I or class II molecules Other autoinflammatory conditions, Recurrent pneumonia, soft-tissue (Bare lymphocyte syndrome, type I or II) granulomas, recurrent abscesses, specify: _____________________ specific microbial infections; specify: Telomere Defects B-Cell Deficiency; Agammaglobulinemia ____________________________ Idiopathic pulmonary fibrosis Recurrent sinopulmonary infections Palmoplantar keratoderma with Dyskeratosis congenita Hypogammaglobulinemia periodontitis (Papillon-Lefvre) Bone marrow failure syndrome Lymphoproliferation Delayed umbilical cord separation +/- Telomeropathies omphalitis Increased IgM (Hyper IgM) Leukocytosis Congenital Neutropenia/Neutrophil PID Class-switch recombination defects Absence of pus (leukocyte adhesion Congenital neutropenia (Kostmann deficiencies) syndrome) Complement aHUS/TMA Atypical hemolytic uremic syndrome Bleeding diathesis Cyclic neutropenia (aHUS) Comel-Netherton syndrome Shwachman-Diamond syndrome Thrombotic microangiopathy (TMA) Favism (hemolysis, neonatal Wiskott-Aldrich syndrome Thrombotic thrombocytopenic purpura hyperbilirubinemia) Cohen syndrome (TTP) Pulmonary alveolar proteinosis Barth syndrome Other neutrophil-associated G6PD deficiency phenotypes WHIM syndrome Bombay blood group Other neutropenia, specify: Gingivitis ________________________________ Periodontitis T791 ©2021 Mayo Foundation for Medical Education and Research Page 1 of 3 MC1235-248rev0221 Primary Immunodeficiencies Patient Information (continued) Patient Name (Last, First, Middle) Birth Date (mm-dd-yyyy) Family History Attach Pedigree if available. Are there any affected relatives? Yes No If yes, relationship: ___________________________________________________________________________________________ Is there any consanguinity in the family? Yes No Have relatives had molecular genetic testing? Yes No If yes, specify: ______________________________________________________________________________________________ Ethnicity European Caucasian African American Hispanic Asian Other: ___________________________________________ Clinical History Check all that apply. Age of onset of symptoms: ________ Durations of symptoms: ____________________________________________________________ Has the patient received a hematopoietic cell transplant? Yes No If yes, transplant date (mm-dd-yyyy): _______________________ Transplant type: allogeneic (MRD, MURD, haplo, cord, BM): _____________________________________________________________ Donor chimerism: % T: __________ % B: __________ % NK: __________ % myeloid: __________ Has the patient received a solid organ transplant? Yes No If yes, Heart Lung Liver Kidney Vascularized Composite allograph Other, specify: ____________________________________________________________________________________________ First transplant or multiple: _____________________________________________________________________________________ Post-transplant immunosuppression Graft versus host disease? Yes: Acute Chronic No Laboratory Findings Cytokines Complement Serology Abnormal lymphocyte (T-, B-, IL-1b: Increased Decreased CH50: Normal Abnormal and NK-cell) subset quantitation: IL-6: Increased Decreased AH50: Normal Abnormal ____________________________ IL-18: Increased Decreased FH autoantibody: Yes No TNF alpha: Increased Decreased FH: Normal Abnormal Humoral Markers Interferon-gamma: FB: Normal Abnormal Abnormal B-cell function Increased Decreased (vaccine antibody responses): FI: Normal Abnormal Chromosomal Studies ____________________________ FD: Normal Abnormal 22q deletion FISH Autoantibodies present, specify: sMAC: Normal Abnormal Chromosomal array ____________________________ aHUS serology panel Other chromosomal abnormality Hypogammaglobulinemia: C2 level: ____________ _____________________________ IgG IgA IgM Function: Normal Abnormal IgD IgE Protein Loss Markers C3 level: ____________ Hypergammaglobulinemia: Calprotectin Function: Normal Abnormal IgG IgA IgM 24-hour stool alpha-1 antitrypsin C4 level: ____________ IgD IgE clearance assay Function: Normal Abnormal Serum albumin C5 level: ____________ Cellular Markers Proteinuria: Yes No Function: Normal Abnormal Abnormal TREC assay (NBS and/or C6–C9 level: _________ other): ______________________ Soluble Biomarkers Function: Normal Abnormal Abnormal T-cell function (specify ADAMTS13 C1q level: ___________ mitogens/antigens/anti-CD3/cytokine Activity: ________ Level: ________ Function: Normal Abnormal production); Shiga toxin: Positive Negative C1q antibody: Yes No T-cell markers: Vitamin B12: ___________________ C3NeF: Yes No Naive: Increased Decreased Folate: _______________________ Other: __________________________ Memory: Increased Decreased Ferritin: _______________________ Activated: Soluble IL2R-alpha (sCD25): _______ Other Markers Increased Decreased Abnormal radiosensitivity: Yes No B-cell markers: CRP: _________________________ (blood, MB, or fibroblasts) Switched memory: ESR: _________________________ Specific protein assay by flow cytometry: Increased Decreased Triglycerides: __________________ BTK: Normal Abnormal Marginal zone B-cells: Fibrinogen: ____________________ Increased Decreased LRBA: Normal Abnormal AFP level (age when tested): _______ DOCK8: Normal Abnormal Transitional B-cells: ALPS screening panel: Increased Decreased WAS: Normal Abnormal DNT-cell % as % CD3+ : __________ Plasmablasts: XIAP: Normal Abnormal Increased Decreased sFASL: Increased Abnormal SAP: Normal Abnormal Page 2 of 3 MC1235-248rev0221 Primary Immunodeficiencies Patient Information (continued) Patient Name (Last, First, Middle) Birth Date (mm-dd-yyyy) Other Markers (continued) Anti-granulocyte antibody Other Clinical Symptoms: Functional studies: COOMBS test: Positive Negative __________________________________ T-cell: Normal Abnormal Lymphangiectasia, location: __________________________________ (specify mitogens/antigens/anti-CD3/ ______________________________ cytokine production) __________________________________ STAT signaling: Oncologic History __________________________________ Normal Abnormal Myelodysplasia/AML DHR: Normal Abnormal Lymphoma, specify: Medications Calcium signaling: ______________________________ On immunosuppressant therapy? Normal Abnormal Solid tumor, specify: Yes No Other: __________________________ ______________________________ Previous immunosuppressant therapy: Telomere length: Leukemia, specify: Duration: ____________________ Lymphoid: Normal <10% <1% ______________________________ Date of use: __________________ Myeloid: Normal <10% <1% Recurrent primary tumors, specify: Other Comments: ADA1: ______________________________ Activity: ________ Level: ________ __________________________________ Other: _________________________ ADA2: __________________________________ Activity: ________ Level: ________ Head and Neck __________________________________ PNP: Dysmorphic facies, specify: __________________________________ Activity: ________ Level: ________ ______________________________ __________________________________ Other findings: ______________________ Lymphadenopathy __________________________________ _________________________________ Microcephaly Oral leukoplakia Infectious Disease History Small lymph nodes and/or tonsils Recurrent, difficult to treat infections: Thymic hypoplasia Attach clinical notes if