Primary immunodeficiency (PID)

Disease/Condition(s): congenital neutropenic disorder, primary immunodeficiency (PID), WHIM syndrome

What is Primary immunodeficiency (PID)?

Congenital neutropenic disorders and primary immunodeficiencies (PIDs) are a group of rare genetic conditions characterized by an impaired immune system, which makes individuals highly susceptible to infections. One specific type of PID is WHIM syndrome, an acronym for Warts, Hypogammaglobulinemia, Infections, and Myelokathexis. This condition involves a range of symptoms including severe warts, reduced levels of immune antibodies, recurrent bacterial infections, and myelokathexis— a unique phenomenon where neutrophils (a type of white blood cell essential for fighting infections) fail to exit the bone marrow properly. These disorders result from genetic mutations that affect the cells and proteins of the immune system, leading to chronic, often severe, infectious diseases.

Primary immunodeficiency (PID) Sponsored Testing Program Overview:

Primary Immunodeficiency (PID)

What is the role of testing for Primary immunodeficiency (PID)?

Genetic testing plays a key role in the diagnosis and management of primary immunodeficiencies (PIDs) and congenital neutropenic disorders, such as WHIM syndrome. By pinpointing specific genetic mutations, it provides definitive diagnoses, distinguishing these disorders from other conditions with similar symptoms and informing targeted therapeutic strategies. This precision is crucial for implementing effective treatments.

Additionally, genetic testing facilitates earlier and more accurate interventions, potentially improving prognosis and quality of life. It also enables family screening, offering crucial information for family planning and identifying at-risk relatives who may benefit from early treatment and surveillance.

What is the Program?

PATH4WARD is a no-charge genetic testing program sponsored by X4 Pharmaceuticals in partnership with Invitae, intended to help diagnose patients suspected of having a congenital neutropenic disorder or a primary immunodeficiency (PID), including WHIM syndrome. The program includes genetic counseling for patients and/or clinicians, as well as family variant testing when applicable.

Program Eligibility

The no-charge PATH4WARD genetic testing program is available to US patients who have all three (3) of the following criteria:

1. Suspicion of a congenital neutropenic disorder or a primary immunodeficiency.
2. Any prior history or a current absolute neutrophil count (ANC) ≤ 1,000 cells/µL on multiple occasions that is not related to drugs or chemotherapy or secondary to viral infection.
3. One or more of the following:
- Personal history – or family history – of recurrent and/or severe infection
- Personal history of lymphopenia
- Personal history of hypogammaglobulinemia
- Personal history of refractory or recalcitrant warts
- Family history of neutropenia

Testing

How to participate

Choose between the following testing options:

Invitae

Invitae Inborn Errors of Immunity and Cytopenias Panel

Genes Evaluated: ABCB7, ABCG5, ABCG8, ACAN, ACD, ACP5, ACTB, ACTN1, ADA, ADA2, ADAM17, ADAMTS13, ADAR, ADGRE2, AICDA, AIRE, AK2, AK7, ALAS2, ALG6, ALPK1, ANGPT1, ANKRD26, ANKZF1, ANO6, AP3B1, AP3D1, ARHGEF1, ARMC4, ARPC1B, ASAH1, ATM, ATP6AP1, ATR, B2M, BACH2, BCL10, BCL11B, BLM, BLNK, BLOC1S3, BLOC1S6, BRCA1, BRCA2, BRIP1, BTK, C11ORF70, C15ORF41, C17ORF62, C1QA, C1QB, C1QC, C1S, C2, C3, C5, C6, C7, C8A, C8B, C9, CARD11, CARD14, CARD8, CARD9, CARMIL2, CASP10, CASP8, CBL, CCBE1, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CD19, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD46, CD55, CD59, CD79A, CD79B, CD81, CD8A, CDAN1, CDC42, CDCA7, CEBPE, CEP164, CFAP298, CFB, CFD, CFH, CFI, CFP, CFTR, CHD7, CHEK2, CIB1, CIITA, CLCN7, CLPB, COL7A1, COPA, CORO1A, CR2, CSF2RA, CSF2RB, CSF3R, CTC1, CTLA4, CTPS1, CTSC, CXCR2, CXCR4, CYBA, CYBB, CYCS, CYP27A1, DBR1, DCLRE1C, DDX41, DDX58, DEF6, DGAT1, DGKE, DIAPH1, DKC1, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH5, DNAH8, DNAH9, DNAI1, DNAI2, DNAJB13, DNAJC21, DNAL1, DNASE1L3, DNASE2, DNMT3B, DOCK2, DOCK8, DRC1, DSG1, DTNBP1, DUOX2, EFL1, EIF2AK3, ELANE, EPCAM, EPG5, ERBIN, ERCC2, ERCC3, ERCC4, ERCC6L2, ETV6, EXTL3, FADD, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAS, FASLG, FAT4, FCHO1, FERMT1, FERMT3, FLI1, FNIP1, FOXI3, FOXN1, FOXP3, FPR1, G6PC, G6PC3, G6PD, GAS8, GATA1, GATA2, GFI1, GINS1, GLRX5, GP1BA, GP6, GP9, GTF2E2, GTF2H5, GUCY2C, HAX1, HELLS, HMOX1, HPS1, HPS3, HPS4, HPS5, HPS6, HTRA2, HYOU1, ICOS, ICOSLG, IFIH1, IFNAR1, IFNAR2, IFNGR1, IFNGR2, IGLL1, IKBKB, IKZF1, IL10, IL10RA, IL10RB, IL12B, IL12RB1, IL12RB2, IL17F, IL17RA, IL17RC, IL18BP, IL1RN, IL21, IL21R, IL23R, IL2RA, IL2RB, IL2RG, IL36RN, IL6R, IL6ST, IL7R, IRAK4, IRF2BP2, IRF4, IRF7, IRF8, IRF9, ISG15, ITCH, ITGA2B, ITGAM, ITGB2, ITGB3, ITK, JAGN1, JAK1, JAK2, JAK3, KAT6A, KDM1A, KDM6A, KIF23, KIT, KLF1, KLHDC8B, KMT2A, KMT2D, LAMTOR2, LARS2, LAT, LCK, LCT, LIG1, LIG4, LIPA, LPIN2, LRBA, LRRC56, LRRC6, LRRC8A, LYN, LYST, MAD2L2, MAGT1, MALT1, MAP3K14, MBD4, MCIDAS, MCM4, MECOM, MEFV, MKL1, MLH1, MOGS, MPL, MPLKIP, MS4A1, MSH2, MSH6, MSN, MTHFD1, MVK, MYD88, MYH9, MYO5B, MYSM1, NAF1, NBAS, NBN, NCF2, NCF4, NCKAP1L, NCSTN, NDUFB11, NEUROG3, NF1, NFAT5, NFE2L2, NFKB1, NFKB2, NFKBIA, NHEJ1, NHP2, NLRC4, NLRP1, NLRP12, NLRP3, NME8, NOD2, NOP10, NOTCH2, NPAT, NSMCE3, OAS1, OFD1, ORAI1, OSTM1, OTULIN, P2RY12, PALB2, PARN, PAX1, PEPD, PGM3, PIH1D3, PIK3CD, PIK3R1, PLA2G4A, PLCG2, PLG, PLVAP, PMM2, PMS2, PNLIP, PNP, POLA1, POLD1, POLD2, POLE, POLE2, POLR3A, POLR3F, POMP, POT1, PRF1, PRKCD, PRKDC, PSENEN, PSMA3, PSMB4, PSMB8, PSMG2, PSTPIP1, PTEN, PTPRC, PUS1, RAB27A, RAC2, RAD51, RAD51C, RAG1, RAG2, RANBP2, RASGRP1, RASGRP2, RBCK1, RBM8A, RECQL4, REL, RELA, RELB, RFWD3, RFX5, RFXANK, RFXAP, RHOH, RIPK1, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RNF113A, RNF168, RNF31, RNU4ATAC, RORC, RPGR, RPL11, RPL15, RPL18, RPL19, RPL23, RPL26, RPL27, RPL31, RPL35, RPL35A, RPL5, RPL9, RPS10, RPS15A, RPS19, RPS24, RPS26, RPS27, RPS28, RPS29, RPS7, RPSA, RSPH1, RSPH3, RSPH4A, RSPH9, RTEL1, RUNX1, SAMD9, SAMD9L, SAMHD1, SAR1B, SBF2, SCO2, SEC23B, SEC61A1, SEMA3E, SERPING1, SGPL1, SH2D1A, SH3BP2, SH3KBP1, SI, SIAE, SKIV2L, SLC10A2, SLC19A2, SLC25A38, SLC26A3, SLC29A3, SLC35C1, SLC37A4, SLC39A7, SLC46A1, SLC51B, SLC5A1, SLC7A7, SLC9A3, SLX4, SMARCAL1, SMARCD2, SNX10, SP110, SPAG1, SPINK5, SPINT2, SPPL2A, SRP54, SRP72, STAT1, STAT2, STAT3, STAT4, STAT5B, STIM1, STK4, STN1, STX11, STX3, STXBP2, TAOK2, TAP1, TAP2, TAPBP, TAZ, TBX1, TBXA2R, TCF3, TCIRG1, TCN2, TERC, TERF2IP, TERT, TET2, TFRC, TGFB1, TGFBR1, TGFBR2, THBD, THPO, TICAM1, TIMM50, TINF2, TLR3, TLR7, TMC6, TMC8, TMEM173, TMPRSS15, TNFAIP3, TNFRSF11A, TNFRSF13B, TNFRSF13C, TNFRSF1A, TNFRSF4, TNFRSF6B, TNFRSF9, TNFSF11, TNFSF12, TONSL, TOP2B, TP53, TP63, TPP2, TRAF3, TRAF3IP2, TREX1, TRNT1, TSR2, TTC37, TTC7A, TUBB1, TYK2, UBE2T, UNC13D, UNC45A, UNC93B1, UNG, USB1, VAV1, VIPAS39, VPS13B, VPS33B, VPS45, WAS, WDR1, WIPF1, WNT2B, WRAP53, XIAP, XRCC2, YARS2, ZAP70, ZBTB24, ZCCHC8, ZMYND10, ZNF341

How To Order

Collect your patient’s specimen using an Invitae collection kit and return it. Use the label provided to ship most samples at no additional charge from the US and Canada.

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More Information About This Program

Patients that meet the eligibility criteria may receive one test at no cost.
No patients, providers, and/or third-party payers (including commercial health plans and government health care programs) will be billed for the testing covered under the program.
The ordering physician will not receive any fees or other compensation in connection with the Sponsored Testing Program, such as for specimen collection, handling, or data reporting.
Patients meeting the above eligibility criteria, as well as their treating health care providers, are not required to order, purchase, prescribe, and/or obtain any other product or service from sponsor, the labs or any of their affiliates.
The performing labs reserve the right to rescind, revoke, or amend the program for any reason without notice.
Program is not valid where prohibited by law.
No identifiable patient data will be shared with sponsor as part of this program.

About X4 Pharmaceuticals

X4 is delivering progress for patients by developing and commercializing innovative therapies for those with rare diseases of the immune system and significant unmet needs. Leveraging our expertise in CXCR4 and immune system biology, we have successfully developed mavorixafor, which has received U.S. approval as XOLREMDI™ (mavorixafor) capsules in its first indication. We are also evaluating the use of mavorixafor in additional potential indications. X4 corporate headquarters are in Boston, Massachusetts and our research center of excellence is in Vienna, Austria. For more information, please visit our website at www.x4pharma.com.