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Home , Bare lymphocyte syndrome, Barth syndrome, Immunodeficiency, Leukopenia, Primary immunodeficiency, Thymic hypoplasia

Primary 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 / Severe Combined Periodic Enteropathy/Hepatic PID Severe combined immunodeficiency (SCID) Familial Mediterranean fever (FMF) Chronic IBD-like disorder and CID Combined immunodeficiency (CID) Hyper IgD syndrome T-cell lymphopenia/deficiency Cryopyrin-associated periodic Crohn disease (T-, B-, NK-) SCID (ADA-SCID; syndromes (CAPS) Enteropathy, , Reticular dysgenesis) Blau syndrome autoinflammation, and (T-, B-, NK+) SCID PAPA syndrome IBD, (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 / Amylopectinosis and autoinflammation ENB lymphoproliferative disease Majeed syndrome; CRMO Phagocytic PID/ CD4+ or CD8+ T-cell deficiency orabsence Other inflammasome-relateddisorders Chronic Granulomatous Disease of MHC class I or class II molecules Other autoinflammatory conditions, Recurrent , soft-tissue (Bare 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 Hypogammaglobulinemia periodontitis (Papillon-Lefvre) marrow failure syndrome Lymphoproliferation Delayed umbilical cord separation +/- Telomeropathies omphalitis Increased IgM (Hyper IgM)  Congenital / PID Class-switch recombination defects Absence of pus (leukocyte adhesion Congenital neutropenia (Kostmann deficiencies) syndrome) Complement aHUS/TMA Atypical hemolytic uremic syndrome Bleeding diathesis (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 Liver Kidney Vascularized Composite allograph Other, specify: ______First transplant or multiple: ______Post-transplant Graft versus host disease? Yes: Acute Chronic No Laboratory Findings 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 : Yes No TNF alpha: Increased Decreased FH: Normal Abnormal Humoral Markers -gamma: FB: Normal Abnormal Abnormal B-cell function Increased Decreased ( responses): FI: Normal Abnormal Chromosomal Studies ______FD: Normal Abnormal 22q deletion FISH  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//anti-CD3/ 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 : ______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- antibody Other Clinical Symptoms: Functional studies: COOMBS test: Positive Negative ______T-cell: Normal Abnormal , location: ______(specify /antigens/anti-CD3/ ______cytokine production) ______STAT signaling: Oncologic History ______Normal Abnormal Myelodysplasia/AML DHR: Normal Abnormal , specify: Medications Calcium signaling: ______On immunosuppressant therapy? Normal Abnormal Solid tumor, specify: Yes No Other: ______Previous immunosuppressant therapy: Telomere length: , 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 Infectious Disease History Small lymph nodes and/or Recurrent, difficult to treat infections:  Attach clinical notes if available. Viral Bacterial Fungal Abnormal CT/MRI of brain: Recurrent pneumonia, ear infections, ______or Recurrent deep abscesses of the organs Other: ______or skin Multiple courses of necessary Skin/Hair to clear infections Albinism On replacement immunoglobulin Alopecia Dysplastic nails Hematologic/Vascular History Ectodermal dysplasia Lymphopenia: subset and count Eczema (cells/mcL): ______Hypopigmentation/hyperpigmentation Lymphocytosis: subset and count Rash/dermatitis (cells/mcL): ______Telangiectasia of eyes or skin Leukocytosis: ______Other: ______Bone marrow failure Bone marrow biopsy General History Abnormalities seen: Yes No Acute liver failure Marrow cellularity: ______Cardiac surgery in infancy or early  childhood  Dental anomalies Failure to thrive Cytopenias (2 of 3 cell lineages) Fever(s) /neutropenia Fontan procedure /small platelets (Hepato) Anemia Lethargy Protein losing enteropathy Aneurysms Respiratory insufficiency/failure Polyarteritis nodosa (PAN) Skeletal anomalies Stroke Sudden unexplained coma/death Anti-platelet antibody Thymectomy

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